Julie Schaffer, M.D.

Retiform purpura and digital gangrene secondary to antiphospholipid syndrome successfully treated with sildenafil
Gonzalez, Mercedes E; Kahn, Philip; Price, Harper N; Kamino, Hideko; Schaffer, Julie V
2011 Feb;147(2):164-167, Archives of dermatology
— id: 124105, year: 2011, vol: 147, page: 164, stat: Journal Article,

Blaschko lines and other patterns of cutaneous mosaicism
Molho-Pessach, Vered; Schaffer, Julie V
2011 Mar-Apr;29(2):205-225, Clinics in dermatology
The lines of Blaschko represent a classic pattern of cutaneous mosaicism that can be observed in a wide variety of congenital and acquired skin disorders. This contribution reviews the clinicopathologic spectrum of skin lesions that follow Blaschko lines. Four other patterns of mosaicism are also discussed: blocklike, phylloid, large patches without midline separation, and lateralization. We emphasize the differential diagnoses, clues to correct categorization, and associated findings of inflammatory, hypopigmented, and hyperpigmented lesions with a mosaic distribution. Clinical examples are used to illustrate genetic concepts such as functional X-chromosome mosaicism, type 1 and 2 segmental manifestations of autosomal dominant skin diseases, paradominant inheritance, and twin spotting
— id: 131810, year: 2011, vol: 29, page: 205, stat: Journal Article,

Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome
Oeffner, Frank; Martinez, Francisco; Schaffer, Julie; Salhi, Aicha; Monfort, Sandra; Oltra, Silvestre; Neidel, Ulrike; Bornholdt, Dorothea; van Bon, Bregje; Konig, Arne; Happle, Rudolf; Grzeschik, Karl-Heinz
2011 May;20(5):447-449, Experimental dermatology
Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome is an X-linked genodermatosis with congenital atrichia being the most prominent feature. Recently, we have shown that functional deficiency of MBTPS2 (membrane-bound transcription factor protease site 2) - a zinc metalloprotease essential for cholesterol homeostasis and endoplasmic reticulum stress response - causes the disease. Here, we present results obtained by analysing two intronic MBTPS2 mutations, c.671-9T>G and c.225-6T>A, using in silico and cell-based splicing assays. Accordingly, the c.225-6T>A transversion generated a new splice acceptor site, which caused extension of exon 3 by four bases and subsequently introduced a premature stop codon. Both, minigene experiments and RT-PCR analysis with patient-derived mRNA, demonstrated that the c.671-9T>G mutation resulted in skipping of exon 6, most likely because of disruption of the polypyrimidin tract or a putative intronic splicing enhancer (ISE). Our combined biocomputational and experimental analysis strongly suggested that both intronic alterations are disease-causing mutations
— id: 131799, year: 2011, vol: 20, page: 447, stat: Journal Article,

Radiation therapy for high-risk squamous cell carcinomas in patients with xeroderma pigmentosum: report of two cases and review of the literature
Schaffer, Julie V; Orlow, Seth J
2011 ;223(2):97-103, Dermatology
Radiation therapy (RT) represents an important adjuvant treatment modality for high-risk squamous cell carcinomas (SCCs). Despite the frequency of aggressive cutaneous and extracutaneous malignancies, there have been relatively few reports of RT in individuals with xeroderma pigmentosum (XP). We describe 2 adolescent boys with XP and high-risk SCCs of the skin that were treated with standard RT regimens without acute or chronic complications. After follow-up periods of 2 and 7 years, both of these patients had developed fewer skin cancers on the treated side of the face. A review of reported cases revealed that XP patients generally have normal cellular and clinical responses to ionizing radiation, which reflects the specificity of their nucleotide excision repair defect for ultraviolet radiation-induced DNA damage
— id: 141972, year: 2011, vol: 223, page: 97, stat: Journal Article,

Spitz nevi - a pediatric dermatology perspective
Tlougan, B. E.; Orlow, S. J.; Schaffer, J. V.
2011 APR ;131(5):S41-S41, Journal of investigative dermatology
— id: 131837, year: 2011, vol: 131, page: S41, stat: Journal Article,

Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation
Cantatore-Francis, Julie L; Cohen-Pfeffer, Jessica; Balwani, Manisha; Kahn, Philip; Lazarus, Herbert M; Desnick, Robert J; Schaffer, Julie V
2010 May;146(5):529-533, Archives of dermatology
BACKGROUND: Hepatoerythropoietic porphyria (HEP) is a rare autosomal recessive disorder resulting from the markedly deficient, but not absent, activity of the heme biosynthetic enzyme uroporphyrinogen decarboxylase (UROD). The disorder typically manifests during infancy or early childhood with extreme photosensitivity, skin fragility in sun-exposed areas, hypertrichosis, erythrodontia, and pink urine. OBSERVATIONS: Three siblings, offspring of parents of Puerto Rican and Dominican descent, had with excessive scarring on the face and dorsal aspect of the forearms, which initially led to the erroneous suspicion of child abuse. Although these lesions were photodistributed, overt photosensitivity had not been observed, with the exception of a single episode of blistering and onycholysis after intense sun exposure in 1 affected child. Mild facial hypertrichosis, chronic anemia, polyarticular arthritis, and developmental delay represented additional findings. Biochemical studies of urine, plasma, and erythrocyte porphyrins from the affected siblings established the diagnosis of HEP. Sequencing of the UROD gene revealed compound heterozygosity for a novel missense mutation, V166A, and a complex deletion/insertion, 645del1053ins10. CONCLUSIONS: Our report expands the phenotypic and genotypic spectrum of HEP, highlighting mild cutaneous presentations that can occur without obvious photosensitivity and masquerade as child abuse
— id: 110107, year: 2010, vol: 146, page: 529, stat: Journal Article,

Annular Lichenoid Dermatitis of Youth: Case Report and Review of the Literature
Gonzalez, Mercedes E.; Leger, Marie C.; Hunt, Raegan D.; Meehan, Shane; Schaffer, Julie V.
2010 SEP-OCT ;27(5):584-585, Pediatric dermatology
— id: 124113, year: 2010, vol: 27, page: 584, stat: Journal Article,

Epidermal nevus
Gonzalez, Mercedes E; Jabbari, Ali; Tlougan, Brook E; Mandal, Rajni; Schaffer, Julie V
2010 ;16(11):12-12, Dermatology online journal
A healthy 25-year-old man presented with a widespread, non-organoid, non-epidermolytic epidermal nevus. In addition to extensive hyperpigented patches and thin plaques following Blaschko lines, there were superimposed psoriasiform plaques on the elbows and warty plaques on the upper trunk. Striate palmar keraoderma also was evident. We review the clinical morphologies, sites of involvement, histopathologic findings (presence or absence of epidermolytic hyperkeratosis), and syndromal associations of non-organoid EN with underlying mutations in different genes
— id: 115768, year: 2010, vol: 16, page: 12, stat: Journal Article,

Conradi-Hunermann-Happle syndrome
Hartman, Rachael D; Molho-Pessach, Vered; Schaffer, Julie V
2010 ;16(11):4-4, Dermatology online journal
A seven-year-old girl was born with red, scaly skin that later evolved into hypopigmentation and follicular atrophoderma in a widespread distribution that followed Blaschko lines. She also had patchy, scarring alopecia, left microphthalmia, bilateral cataracts, dysmorphic facies, short stature, hip dysplasia, and vertebral abnormalities. An elevated plasma 8(9)-cholestenol level confirmed the diagnosis of Conradi-Hunermann-Happle syndrome, which is caused by mutations in the emopamil binding protein (EBP) gene. This reports highlights the evolution of clinical findings over time in this X-linked dominant form of chondrodysplasia punctata
— id: 115770, year: 2010, vol: 16, page: 4, stat: Journal Article,

Pachydermodactyly
Hunt, Raegan; Mandal, Rajni; Walters, Ruth; Schaffer, Julie V
2010 ;16(11):5-5, Dermatology online journal
A 16-year-old boy presented to the Pediatric Dermatology Clinic at the Charles C. Harris Skin and Cancer Pavilion with a two-year history of asymptomatic swelling of fingers on both hands. His condition had remained undiagnosed after previous evaluation by several dermatologists and hand specialists. He initially had noticed increased fullness of his proximal left fourth digit. Several months later, he noted swelling of his left fifth digit and right second through fourth digits. The patient reported no pain, pruritus, restriction of movement, morning stiffness, or trauma. He also denied repetitive hand-rubbing movements although his mother stated that he had this habit as a child. Past medical history included allergic rhinitis and asthma. Similar hand findings were not present in any other members of his family
— id: 115714, year: 2010, vol: 16, page: 5, stat: Journal Article,

Incontinentia pigmenti
Jabbari, Ali; Ralston, Jonathan; Schaffer, Julie V
2010 ;16(11):9-9, Dermatology online journal
Incontinentia pigmenti is an X-linked dominant genodermatosis that can affect the teeth, eyes, and central nervous system as well as the skin. We describe an infant girl with characteristic cutaneous findings, which progressed through the vesicular, verrucous, and hyperpigmented stages in the first year of life. During the neonatal period, recognition of the linear distribution of vesicular lesions and associated peripheral eosinophilia as well as leukocytosis (which might suggest an infectious etiology) can help to establish the diagnosis. This enables early initiation of ophthalmologic care, which can help to prevent visual sequelae
— id: 115769, year: 2010, vol: 16, page: 9, stat: Journal Article,

Congenital melanocytic nevi-when to worry and how to treat: Facts and controversies
Price, Harper N; Schaffer, Julie V
2010 May-Jun;28(3):293-302, Clinics in dermatology
Congenital melanocytic nevi (CMN) are evident in 1% to 6% of neonates. In some studies, nevi with clinical, dermatoscopic, and histologic features identical to CMN have had a prevalence of more than 15% in older children and adults, possibly reflecting the 'tardive' appearance of nevi programmed from birth. There is ongoing debate about the magnitude of the risk of melanoma and other complications associated with CMN of various sizes and the best approach to management of these lesions. We review the natural history of CMN, including proliferative nodules and erosions during infancy, neurotization, and spontaneous regression, and features of variants such as speckled lentiginous and congenital blue nevi. The risk of melanoma arising within small-sized (<1.5 cm) and medium-sized CMN is low (likely <1% over a lifetime) and virtually nonexistent before puberty. Recent data suggest that melanoma (cutaneous or extracutaneous) develops in approximately 5% of patients with a large (>20 cm) CMN, with about half of this risk in the first few years of life. Melanoma and neurocutaneous melanocytosis (NCM) are most likely in patients with CMN that have a final size of >40 cm in diameter, numerous satellite nevi, and a truncal location. One-third of individuals with NCM have multiple medium-sized (but no large) CMN. In patients at risk for NCM, a screening gadolinium-enhanced magnetic resonance imaging, preferably before age 6 months, and longitudinal neurologic assessment are recommended. Management of CMN depends on such factors as the ease of monitoring (more difficult for large, dark, thick nevi) and cosmetic and psychologic benefits of excision or other procedures. CMN require lifelong follow-up. Periodic total body skin examinations are necessary for all patients with large CMN, even when complete resection (often impossible) has been attempted
— id: 110104, year: 2010, vol: 28, page: 293, stat: Journal Article,

Dermatoses of Infants/Neonates Congenital Erosive and Vesicular Dermatosis - Expanding the Spectrum of Features for this Rare Entity
Tlougan, Brook E.; Paller, Amy S.; Schaffer, Julie V.; Mandell, Jenny A.; Nguyen, Xuan H.; Spraker, Mary K.; Hansen, Ronald C.
2010 SEP-OCT ;27(5):565-565, Pediatric dermatology
— id: 124112, year: 2010, vol: 27, page: 565, stat: Journal Article,

Successful treatment of massive anogenital warts in a two-year-old boy with imiquimod and cimetidine immunotherapy
Cohler, Marissa; Schaffer, Julie V
2009 Dec;28(12):1141-1141, Pediatric infectious disease journal
— id: 115771, year: 2009, vol: 28, page: 1141, stat: Journal Article,

Keratitis-ichthyosis-deafness (KID) syndrome
Gonzalez, Mercedes E; Tlougan, Brook E; Price, Harper N; Patel, Rishi; Kamino, Hideko; Schaffer, Julie V
2009 ;15(8):11-11, Dermatology online journal
A 21-year-old man presented with a life-long history of diffusely thickened skin with a grainy-to-ridged surface, verrucous perioral plaques with radial fissures, and diffuse palmoplantar keratoderma with a stippled appearance. These skin findings were accompanied by sensorineural hearing loss and keratoconjunctivitis, a clinical triad diagnostic of keratitis-ichthyosis-deafness (KID) syndrome. The patient also had a history of recurrent infections and cysts on the scalp. This report draws attention to inflammatory nodules (representing ruptured folliculitis), cysts, and recurrent infections on the scalp as manifestations of KID syndrome and reviews the increasingly recognized risk of follicular tumors and squamous-cell carcinomas in patients with this conditions
— id: 105291, year: 2009, vol: 15, page: 11, stat: Journal Article,

Cole disease: guttate hypopigmentation and punctate palmoplantar keratoderma
Moore, Megan M; Orlow, Seth J; Kamino, Hideko; Wang, Nadia; Schaffer, Julie V
2009 Apr;145(4):495-497, Archives of dermatology
— id: 108282, year: 2009, vol: 145, page: 495, stat: Journal Article,

Syringocystadenoma papilliferum in a patient with focal dermal hypoplasia due to a novel PORCN mutation
Schaffer, Julie V; Cantatore-Francis, Julie L; Shin, Helen T; Rosenman, Karla S
2009 Feb;145(2):218-219, Archives of dermatology
— id: 94714, year: 2009, vol: 145, page: 218, stat: Journal Article,

The misnomer "macrocephaly-cutis marmorata telangiectatica congenita syndrome": report of 12 new cases and support for revising the name to macrocephaly-capillary malformations
Wright, Dakara Rucker; Frieden, Ilona J; Orlow, Seth J; Shin, Helen T; Chamlin, Sarah; Schaffer, Julie V; Paller, Amy S
2009 Mar;145(3):287-293, Archives of dermatology
BACKGROUND: The condition known as macrocephaly-cutis marmorata telangiectatica congenita syndrome (M-CMTC) is a rare congenital syndrome of unknown etiology characterized by macrocephaly and vascular lesions that have been described as either cutis marmorata or cutis marmorata telangiectatica congenita (CMTC). Most patients also exhibit facial and limb asymmetry; somatic overgrowth; developmental delay; capillary malformations of the nose, philtrum, and/or upper lip; neurologic abnormalities; syndactyly or polydactyly; craniofacial abnormalities; and joint laxity or soft skin. OBSERVATIONS: We describe 12 patients with this condition from tertiary care medical centers (8 cases) and accrued via an M-CMTC support group Web site (4 cases). All patients showed reticulated or confluent port-wine stains (PWS), not CMTC. Seven of the 12 patients also had centrofacial capillary malformations. In our comprehensive review of 100 previously reported cases, only 34 were accompanied by photographs that were sufficiently clear to review for diagnostic purposes. None had true CMTC, with most having reticulated PWS or persistent cutis marmorata. CONCLUSIONS: Reticulated or confluent PWS and persistent capillary malformations of the central face, rather than CMTC, are the most characteristic cutaneous vascular anomalies seen in so-called M-CMTC syndrome. The name macrocephaly-capillary malformations (M-CM) more accurately reflects the features of this syndrome
— id: 107820, year: 2009, vol: 145, page: 287, stat: Journal Article,

ILVEN-like persistent psoriasiform dermatitis confined to a congenital Becker nevus
Abbasi, Naheed; Fangman, William L; Rosenman, Karla S; Schaffer, Julie V
2008 May-Jun;25(3):390-391, Pediatric dermatology
A 10-year-old boy presented with a 5-year history of an intractably pruritic, recalcitrant psoriasiform plaque in a broad vertical band on the left buttock, with histologic as well as clinical features suggestive of an inflammatory linear verrucous epidermal nevus. This lesion was completely superimposed upon a congenital Becker nevus. We postulate that the restricted distribution and persistence of the psoriasiform plaque reflected an inflammatory response limited to the aberrant clone of cells composing the Becker nevus, a manifestation of cutaneous mosaicism that could be characterized as an 'inflammatory Becker nevus.'
— id: 81359, year: 2008, vol: 25, page: 390, stat: Journal Article,

Clear cell papulosis
Farley-Loftus, Rachel; Bossenbroek, Nicole M; Rosenman, Karla; Schaffer, Julie V
2008 ;14(10):19-19, Dermatology online journal
A 2-year-old boy presented with multiple, hypopigmented, flat-topped papules in the pubic region and on the abdomen in a distribution pattern that followed the milk lines. The lesions had first appeared at age three months and increased in number over time. Histopathologic examination showed large clear cells within the lower epidermis, which stained positively with periodic acid-Schiff. These findings were diagnostic of clear cell papulosis, a rare condition that primarily affects young children. We review the histopathologic and immunohistochemical findings that link clear cell papulosis to clear cells of Toker and extramammary Paget disease
— id: 115773, year: 2008, vol: 14, page: 19, stat: Journal Article,

Parry-Romberg syndrome with coexistent morphea
Lane, Tameka K; Cheung, Jessie; Schaffer, Julie V
2008 ;14(10):21-21, Dermatology online journal
We present a 14-year-old girl with a nine-year history of progressive subcutaneous atrophy on the right side of the face, which is consistent with a diagnosis of Parry-Romberg syndrome. The onset of the atrophy was heralded by the development of a morpheaform plaque on the right temple. This case highlights the substantial of overlap of Parry-Romberg syndrome and morphea
— id: 105564, year: 2008, vol: 14, page: 21, stat: Journal Article,

Mosaic neurofibromatosis type 1
Liang, Christine; Schaffer, Julie V
2008 ;14(5):6-6, Dermatology online journal
A 24-year-old man presented with numerous lentigines and multiple cafe-au-lait macules on both sides of the face, neck, and trunk as well as on the proximal area of the upper extremities and in the axillae. The pigmented lesions had a Blaschko-linear distribution on the upper trunk and were limited to the left side of the abdomen, with a sharp demarcation at the midline. Multiple, cutaneous neurofibromas were found on the trunk, and ophthalmologic examination showed a Lisch nodule in the left iris. The clinical findings and their widespread but segmental distribution were consistent with a diagnosis of mosaic neurofibromatosis type 1
— id: 115774, year: 2008, vol: 14, page: 6, stat: Journal Article,

Hypohidrotic ectodermal dysplasia
Lu, Phoebe D; Schaffer, Julie V
2008 ;14(10):22-22, Dermatology online journal
We report three children with hypohidrotic ectodermal dysplasia (HED), which includes two sisters with unaffected parents (and therefore likely autosomal recessive inheritance of HED) and an unrelated boy. Each patient presented with hypohidrosis, sparse hair, oligodontia with conical teeth, periorbital hyperpigmentation, eczematous dermatitis, and facial features that include frontal bossing, a saddle nose, and prominent lips. HED is caused by defects in the ectodysplasin signal transduction pathway. Mutations in the gene encoding the ligand ectodysplasin A (EDA) underlie classic, X-linked recessive HED, whereas mutations in the genes encoding the EDA receptor and (less frequently) the adaptor protein that associates with the EDA receptor's death domain result in autosomal dominant and autosomal recessive forms of HED
— id: 115772, year: 2008, vol: 14, page: 22, stat: Journal Article,

Pretibial epidermolysis bullosa
Rizzo, Carina; Anandasabapathy, Niroshana; Walters, Ruth F; Rosenman, Karla; Kamino, Hideko; Prystowsky, Steven; Schaffer, Julie V
2008 ;14(10):26-26, Dermatology online journal
A 47-year-old Vietnamese woman presented with dystrophic fingernails and toenails that had been present since infancy. She also had developed, in the third decade, pretibial pruritus with vesicle formation and progressive localized papules and scars. Multiple family members were similarly affected. Physical examination showed lichenoid papules that coalesced into large plaques that were studded with milia over the pretibial areas and 20 nail dystrophy. A biopsy specimen showed milia-like structures and dermal fibrosis. Pretibial epidermolysis bullosa is a rare variant of dystrophic epidermolysis bullosa that shows appreciable clinical overlap with dystrophic epidermolysis bullosa pruginosa. Both disease subsets are characterized by the late age of onset, nail dystrophy, and predominantly pretibial pruritic lichenoid skin lesion; they are associated with glycine substitution mutations in COL7A1
— id: 95637, year: 2008, vol: 14, page: 26, stat: Journal Article,

Tufted angioma
Schaffer, Julie V; Fangman, William; Bossenbroek, Nicole M; Meehan, Shane A; Kamino, Hideko
2008 ;14(10):20-20, Dermatology online journal
A 4-month-old girl developed coalescing, red-purple, firm plaques with irregular borders and superimposed papules in the left groin. The lesions were tender to palpation and they slowly expanded and became thicker over the next year. Histopathologic evaluation showed multiple, discrete lobules of tightly packed capillaries in a 'cannonball' pattern within the dermis, which confirmed the diagnosis of tufted angioma. The clinical and histopathologic features, natural history, and treatment options for tufted angiomas are reviewed; their relationship to kaposiform hemangioendotheliomas is discussed
— id: 95418, year: 2008, vol: 14, page: 20, stat: Journal Article,

Symmetric truncal aplasia cutis congenita following multifetal reduction of a sextuplet pregnancy
Schaffer, Julie V; Popiolek, Dorota A; Orlow, Seth J
2008 Dec;153(6):860-863, Journal of pediatrics
Aplasia cutis congenita (ACC) in a symmetric, stellate pattern on the trunk or extremities is classically associated with a fetus papyraceus. We report symmetric truncal ACC in a neonate born of a sextuplet pregnancy that had been reduced to twins. This case highlights truncal ACC as a consequence of modern reproductive medicine
— id: 93386, year: 2008, vol: 153, page: 860, stat: Journal Article,

Noninvoluting congenital hemangioma
Stein, Jennifer A; Heidary, Noushin; Pulitzer, Melissa; Schaffer, Julie V
2008 ;14(5):7-7, Dermatology online journal
An 8-year-old boy presented with a lifelong history of a vascular mass overlying his right mandible with central coarse telangiectasias and peripheral pallor. Histopathologic examination showed a proliferation of blood vessels in the dermis. Ultrasound examination identified a mix of high- and low-flow vessels within the lesion. These findings were consistent with a noninvoluting congenital hemangioma, a rare vascular tumor that is fully formed at birth that subsequently grows proportionately with the patient and does not regress
— id: 83990, year: 2008, vol: 14, page: 7, stat: Journal Article,

Interstitial granulomatous dermatitis in a child with chronic uveitis
Warycha, Melanie A; Fangman, William; Kamino, Hideko; Schaffer, Julie V
2008 May;58(5 Suppl 1):S100-S102, Journal of the American Academy of Dermatology
— id: 95649, year: 2008, vol: 58, page: S100, stat: Journal Article,

Mycophenolate mofetil for severe childhood atopic dermatitis: experience in 14 patients
Heller, M; Shin, H T; Orlow, S J; Schaffer, J V
2007 Jul;157(1):127-132, British journal of dermatology
BACKGROUND: Reports of successful treatment of atopic dermatitis (AD) with mycophenolate mofetil (MMF) have thus far been limited to adults. Considering that the condition typically develops during childhood and is most active during this period, MMF would represent a valuable addition to the therapeutic armamentarium for paediatric AD. OBJECTIVES: To evaluate the safety and efficacy of MMF in the treatment of severe childhood AD. METHODS: A retrospective analysis was performed of all children treated with MMF as systemic monotherapy for severe, recalcitrant AD between August 2003 and August 2006 at New York University Medical Center. Fourteen patients meeting these criteria were identified. RESULTS: Four patients (29%) achieved complete clearance, four (29%) had > 90% improvement (almost complete), five (35%) had 60-90% improvement and one (7%) failed to respond. Initial responses occurred within 8 weeks (mean 4 weeks), and maximal effects were attained after 8-12 weeks (mean 9 weeks) at MMF doses of 40-50 mg kg(-1) daily in younger children and 30-40 mg kg(-1) daily in adolescents. The medication was well tolerated in all patients, with no infectious complications or development of leucopenia, anaemia, thrombocytopenia or elevated aminotransferases. CONCLUSIONS: This retrospective case series demonstrates that MMF can be a safe and effective treatment for severe, refractory AD in children. MMF represents a promising therapeutic alternative to traditional systemic immunosuppressive agents with less favourable side-effect profiles, and prospective controlled studies are warranted, further to assess its benefits in paediatric AD
— id: 73948, year: 2007, vol: 157, page: 127, stat: Journal Article,

Glomuvenous malformations
Henning, J Scott; Kovich, Olympia I; Schaffer, Julie V
2007 ;13(1):17-17, Dermatology online journal
A 9-year-old girl presented with a congenital, blue-purple, partially compressible plaque with a cobblestone surface on the left lateral foot and ankle. Similar, solitary, blue nodules later appeared elsewhere on the extremities. The lesions were tender to palpation and were associated with spontaneous paroxysms of pain and paresthesias. Histopathologic evaluation of a skin biopsy specimen showed rows of glomus cells that surrounded thin-walled vascular channels, which confirmed the diagnosis of glomuvenous malformations. This autosomal dominant condition, which is due to mutations in the GLMN gene, presents with clinical findings that are distinct from those of familial, multiple, cutaneous and mucosal venous malformations. Treatment options include excision, sclerotherapy, and laser therapy (ablative or pulsed dye)
— id: 94934, year: 2007, vol: 13, page: 17, stat: Journal Article,

Unilateral cutaneous heterotopic meningeal nodules with neural, smooth muscle and connective tissue hamartomas: a field defect of cephalic neural crest-derived tissues
Hunzeker, C M; Borys, D; Greco, M A; Orlow, S J; Schaffer, J V
2007 May;156(5):1047-1050, British journal of dermatology
— id: 73845, year: 2007, vol: 156, page: 1047, stat: Journal Article,

Pachyonychia congenita associated with median rhomboid glossitis
Karen, Julie K; Schaffer, Julie V
2007 ;13(1):21-21, Dermatology online journal
A 3-year-old girl presented with subungual hyperkeratosis and nail plates with increased transverse curvature, distal elevation, yellow-brown discoloration, and mild thickening. The changes, which affected all 20 nails, had developed during the first year of life. Mucocutaneous examination showed the presence of median rhomboid glossitis. The patient's mother had similar nail changes, which had been present since infancy as well as a focal plantar keratoderma and hyperhidrosis. The patient's clinical presentation and history were compatible with a diagnosis of pachyonychia congenita, a rare heritable disease that affects the nails, skin, oral and laryngeal mucosae, teeth, and hair. Dominant-negative mutations in four keratin genes (K6a, K6b, K16, and K17) lead to keratinocyte fragility and the resultant pachyonychia congenita phenotype. Successful targeted therapies are currently lacking for this oftentimes disabling disorder. Although oral manifestations are a common feature of PC, to our knowledge, this represents the first report of median rhomboid glossitis in association with PC
— id: 79123, year: 2007, vol: 13, page: 21, stat: Journal Article,

"Pediatric blaschkitis": expanding the spectrum of childhood acquired Blaschko-linear dermatoses
Keegan, Brian R; Kamino, Hideko; Fangman, William; Shin, Helen T; Orlow, Seth J; Schaffer, Julie V
2007 Nov-Dec;24(6):621-627, Pediatric dermatology
We describe two young children who developed relapsing, pruritic, papulovesicular eruptions in multiple bands along Blaschko lines on the neck, trunk, and extremities. Skin specimens in both revealed spongiotic dermatitis. This represents the first report of 'blaschkitis' in children, providing further evidence that lichen striatus and blaschkitis are related acquired Blaschko-linear dermatoses that exist on a spectrum rather than as the childhood and adult form of a single disease entity. We highlight the features that differentiate blaschkitis from lichen striatus, review the potential roles of cutaneous mosaicism, environmental triggers, and background immunologic state in their pathogenesis, and discuss the spectrum of inflammatory dermatoses that can follow Blaschko lines
— id: 75486, year: 2007, vol: 24, page: 621, stat: Journal Article,

Pigmented lesions in children: when to worry
Schaffer, Julie V
2007 Aug;19(4):430-440, Current opinion in pediatrics
PURPOSE OF REVIEW: Although the incidence of melanoma in adolescents and adults has risen dramatically in the past few decades, childhood melanoma remains uncommon. It is therefore important for pediatricians to be aware of the natural history and clinical spectrum of melanocytic nevi in children as well as potentially worrisome features of pigmented lesions. RECENT FINDINGS: Recent studies have provided insight into the development, evolution and molecular bases of acquired and congenital melanocytic nevi during childhood. This review summarizes the types of melanocytic nevi that are commonly observed in children, environmental (e.g. sun exposure) and genetic (e.g. the familial atypical mole and melanoma syndrome) factors that can contribute to the development of nevi and future risk of melanoma, and phenotypic markers (e.g. numerous acquired nevi or the 'red hair phenotype') that signal the need for periodic total-body cutaneous examinations. Current concepts of the risks associated with congenital melanocytic nevi of different sizes and strategies for the management of various types of nevi (including congenital, blue and Spitz nevi) are presented, and data on the clinical presentations and biologic behavior of prepubertal melanoma are discussed. SUMMARY: Clinical and molecular investigations have helped to better understand the characteristics of melanocytic nevi and define pathways of melanocytic tumorigenesis
— id: 74301, year: 2007, vol: 19, page: 430, stat: Journal Article,

Widespread granulomatous dermatitis of infancy: an early sign of Blau syndrome
Schaffer, Julie V; Chandra, Pranil; Keegan, Brian R; Heller, Patricia; Shin, Helen T
2007 Mar;143(3):386-391, Archives of dermatology
BACKGROUND: Pediatric sarcoidosis has traditionally been divided into 2 distinct groups: (1) school-aged children and adolescents with frequent involvement of the lungs and mediastinal lymph nodes (similar to adult sarcoidosis) and (2) infants and preschoolers with the triad of arthritis, uveitis, and a cutaneous eruption of discrete small papules, referred to as early-onset sarcoidosis. Blau syndrome, a rare autosomal dominant genodermatosis caused by mutations in the NOD2 (nucleotide-binding oligomerization domain 2) gene, has been considered as the familial form of early-onset sarcoidosis. OBSERVATIONS: A 9-month-old boy developed an asymptomatic eruption of 1- to 2-mm, red-brown to pinkish tan, flat-topped papules on the face, trunk, and extremities. There was no evidence of ocular involvement or arthritis. The skin lesions were characterized histologically by noncaseating granulomas in a periadnexal distribution within the dermis. A family history of uveitis supported a diagnosis of Blau syndrome, and analysis of the NOD2 gene revealed a heterozygous gain-of-function missense mutation (Arg334Trp) that has previously been detected in Blau syndrome kindreds. CONCLUSION: We draw attention to granulomatous dermatitis as an early manifestation of Blau syndrome and highlight emerging molecular evidence that this heritable autoinflammatory disorder and early-onset sarcoidosis represent a single disease entity
— id: 72075, year: 2007, vol: 143, page: 386, stat: Journal Article,

Pigmented plexiform neurofibroma: Distinction from a large congenital melanocytic nevus
Schaffer, Julie V; Chang, Mary W; Kovich, Olympia I; Kamino, Hideko; Orlow, Seth J
2007 May;56(5):862-868, Journal of the American Academy of Dermatology
The substantial clinical and histologic overlap between neurotized congenital melanocytic nevi and the subset of plexiform neurofibromas with hyperpigmentation and hypertrichosis of the overlying skin (pigmented neurofibroma) has led to considerable confusion in the literature. A dark-brown, hypertrichotic plaque covered much of the right lower aspect of the trunk of a 1-year-old girl with a diffuse and plexiform neurofibroma in the same area, numerous cafe-au-lait macules, and intertriginous freckling. The latter findings were diagnostic of neurofibromatosis-1, which was further supported by the presence of unidentified bright objects on magnetic resonance imaging of the brain. Histologic examination of the hyperpigmented plaque revealed melanocytic hyperplasia at the dermoepidermal junction and a proliferation of rounded, pigmented melanocytes dispersed individually and in occasional small nests in the papillary dermis and scattered within underlying neurofibromatous tissue. Immunohistochemical staining with A103 (Melan-A/MART-1) and PNL2 confirmed the melanocytic differentiation of the pigmented cells, whereas glial fibrillary acidic protein and Leu-7 were detected only within plexiform areas and slender neuroid spindle cells. This case draws attention to the pigmented neurofibroma as a distinct clinicopathologic entity resulting from proliferation of melanocytes and neurosustentacular cells in the setting of neurofibromatosis-1
— id: 94939, year: 2007, vol: 56, page: 862, stat: Journal Article,

Phacomatosis pigmentokeratotica associated with hemihypertrophy and a rhabdomyosarcoma of the abdominal wall
Gruson, Lisa M; Orlow, Seth J; Schaffer, Julie V
2006 Aug;55(2 Suppl):S16-S20, Journal of the American Academy of Dermatology
Phacomatosis pigmentokeratotica (PPK) represents a specific 'twin nevus' syndrome in which a speckled lentiginous nevus (SLN) is associated with an organoid nevus with sebaceous differentiation. A boy with a large nevus sebaceus on the left face and upper part of the trunk, a giant segmental SLN extending from the abdomen to the feet bilaterally, and right hemihypertrophy developed an embryonal rhabdomyosarcoma of the right abdominal wall at age 6 months. A variety of musculoskeletal, neurologic, and ocular anomalies have been observed in patients with PPK, reflecting the individual manifestations of both SLN and Schimmelpenning syndromes. This report adds hemihypertrophy to the spectrum of extracutaneous manifestations of PPK and, to our knowledge, represents the first observation of a rhabdomyosarcoma arising in contiguity with an SLN in a patient with PPK. The development of a rhabdomyosarcoma in our patient likely reflects both increased propensity for growth (as evidenced by the hemihypertrophy) and the pluripotent nature of neural-crest derived cells within the field defect that underlies an SLN
— id: 67008, year: 2006, vol: 55, page: S16, stat: Journal Article,

Ehlers-Danlos syndrome type VIII: periodontitis, easy bruising, marfanoid habitus, and distinctive facies
Moore, Megan M; Votava, Jennie M; Orlow, Seth J; Schaffer, Julie V
2006 Aug;55(2 Suppl):S41-S45, Journal of the American Academy of Dermatology
An 11-year-old boy had a history of easy bruising and poorly healing wounds since infancy and severe, early-onset periodontitis. He also exhibited mild hypermobility of the small joints of the hands, long limbs with striking arachnodactyly, and a triangular face with delicate features. Analysis of type I and type III collagens revealed no abnormalities. These findings were consistent with a diagnosis of Ehlers-Danlos syndrome type VIII (EDS-VIII), an autosomal dominant connective tissue disorder that was recently mapped to chromosome 12q13. We draw attention to the clinical features that typify EDS-VIII, including extensive pretibial bruising, a marfanoid body habitus, and characteristic facies, as well as childhood onset of progressive periodontal disease
— id: 96939, year: 2006, vol: 55, page: S41, stat: Journal Article,

The changing face of graft-versus-host disease
Schaffer, Julie V
2006 Dec;25(4):190-200, Seminars in cutaneous medicine & surgery
Despite advances in the procedure and posttransplantation immunosuppressive therapy, more than half of allogeneic hematopoietic stem cell transplant (HSCT) recipients develop graft-versus-host disease (GVHD), which remains a major cause of morbidity and mortality. Modern HSCT protocols have resulted in substantial alterations in the timing and relative incidences of acute and chronic GVHD, making traditional classification schemes obsolete. This article reviews major changes in HSCT during the past decade, evolving concepts of acute and chronic GVHD (including new diagnostic criteria) and the expanding spectrum of cutaneous GVHD. It focuses on observations that have led to a better delineation of the full constellation of skin findings in chronic cutaneous GVHD, including lichen sclerosus, morpheaform lesions, and eosinophilic fasciitis. Recent insights into pathogenesis of GVHD, lessons from GVHD arising in settings outside HSCT, and therapeutic advances also are highlighted
— id: 71232, year: 2006, vol: 25, page: 190, stat: Journal Article,

Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions
Schaffer, Julie V; Bazzi, Hisham; Vitebsky, Anna; Witkiewicz, Agnieszka; Kovich, Olympia I; Kamino, Hideko; Shapiro, Lawrence S; Amin, Snehal P; Orlow, Seth J; Christiano, Angela M
2006 Jun;126(6):1286-1291, Journal of investigative dermatology
Localized autosomal recessive hypotrichosis (LAH) is a recently defined disorder characterized by fragile, short, sparse hairs on the scalp, trunk, and extremities. Mutations in desmoglein 4 (DSG4), a novel member of the desmosomal cadherin family that is expressed in the hair follicle as well as the suprabasal epidermis, have been found to underlie LAH. Thus far, the allelic series includes a recurrent intragenic deletion identified in affected Pakastani kindreds and a missense mutation detected in an Iraqi family. We report three siblings of Iraqi and Iranian origin with LAH that presented with congenital scalp erosions and monilethrix-like hairs, features that have not been previously described in this disorder. Follicular hyperkeratotic papules and marked pruritus were also prominent clinical findings. Novel compound heterozygous DSG4 mutations, including a splice-site mutation and a missense mutation that disrupts a conserved calcium-binding site in the extracellular (EC)2-EC3 interface, were found to underlie the disease in this family. These observations broaden the phenotypic and genotypic spectrum of LAH, further illustrating the consequences of DSG4 dysfunction on epidermal and hair shaft integrity
— id: 64666, year: 2006, vol: 126, page: 1286, stat: Journal Article,

Mucocutaneous neuromas: an underrecognized manifestation of PTEN hamartoma-tumor syndrome
Schaffer, Julie V; Kamino, Hideko; Witkiewicz, Agnieszka; McNiff, Jennifer M; Orlow, Seth J
2006 May;142(5):625-632, Archives of dermatology
BACKGROUND: The spectrum of clinical findings associated with PTEN tumor suppressor gene germline mutations, referred to as PTEN hamartoma-tumor syndrome (PHTS), includes Cowden and Bannayan-Riley-Ruvalcaba syndromes. Although the skin is the ectodermal structure most often affected by these autosomal dominant genodermatoses, abnormalities of neural tissues are frequently observed. OBSERVATIONS: We describe a 5-year-old boy with macrocephaly, prominent corneal nerves, and progressive development of multiple painful, dome-shaped, translucent pink to skin-colored papules on the vermilion portion of the upper lip, fingers, palms, and shins. Histologic evaluation demonstrated dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath, findings diagnostic of a nonencapsulated neuroma. Genetic analysis revealed a novel heterozygous germline nonsense mutation in PTEN, predicted to result in a truncated PTEN protein. To our knowledge, this represents the first report of multiple neuromas as the sole mucocutaneous manifestation of PHTS. CONCLUSIONS: This article highlights neuromas as a cutaneous sign of PHTS, drawing attention to manifestations of PHTS in neural tissues of the skin, eye, gastrointestinal tract, and brain. Along with multiple endocrine neoplasia type 2B, PHTS should be considered in the differential diagnosis of multiple mucocutaneous neuromas, particularly those involving extrafacial sites
— id: 64392, year: 2006, vol: 142, page: 625, stat: Journal Article,

Pityriasis rubra pilaris, type IV
Bragg, Jennifer; Witkiewicz, Agnieszka; Orlow, Seth J; Schaffer, Julie V
2005 ;11(4):14-14, Dermatology online journal
A 4-year-old girl presented with a 3-year history of demarcated, salmon-pink, hyperkeratotic plaques, which were symmetrically distributed on the elbows, knees, ankles, and dorsal aspects of the hands and feet. A diffuse, orange-pink palmoplantar keratoderma was also evident. Clinical and histologic findings were consistent with a diagnosis of pityriasis rubra pilaris (PRP), type IV (circumscribed juvenile). Type IV PRP develops in prepubertal children, is typically localized to the distal aspects of the extremities, and has an unpredictable course. Although ultraviolet (UV) radiation can potentially exacerbate PRP, our patient has improved with broad-band UVB phototherapy
— id: 66687, year: 2005, vol: 11, page: 14, stat: Journal Article,

Breslow depth of cutaneous melanoma: impact of factors related to surveillance of the skin, including prior skin biopsies and family history of melanoma
Fisher, Nina M; Schaffer, Julie V; Berwick, Marianne; Bolognia, Jean L
2005 Sep;53(3):393-406, Journal of the American Academy of Dermatology
BACKGROUND: Because the early detection of cutaneous melanoma can dramatically improve survival, identification and surveillance of persons at risk have received much attention. OBJECTIVE: Our purpose was to examine the influences of personal or family history, patterns of detection, and prior skin biopsies (considered to be a measurement of surveillance by medical personnel) on the Breslow depth of cutaneous melanomas. METHODS: A retrospective cohort analysis of 218 patients with a history of at least one invasive cutaneous melanoma who visited the Yale Pigmented Lesion Clinic between January 1995 and January 1996 was performed. Data on patterns of detection, melanocytic nevi, and skin biopsies before and after the initial diagnosis of melanoma were collected, and patients with a family history of melanoma were compared with sporadic patients. RESULTS: Initial melanomas discovered by dermatologists were more likely to be 0.75 mm or less in depth than those found by other physicians (P = .03). Although patients detected 45% of the initial primary melanomas (98/218), dermatologists discovered 80% of the second primary tumors (33/41; P = .001). A personal history of melanoma was predictive of a thinner Breslow depth (P = .01), but a family history of melanoma was not. Having a biopsy of any type or combination of types of skin lesion(s) performed in the 5 years, 2 years, or 1 year before the first diagnosis of melanoma did not predict a melanoma of thinner Breslow depth among either familial or sporadic patients. The mean number of skin biopsies performed per patient was 8 times higher in the 5-year period after (5.6) versus the 5-year period before (0.7) the initial diagnosis of melanoma, with a peak in the first year after the diagnosis (2.3 vs 0.25 in the prior year). In 27 patients, one or more skin biopsies were performed in the year before the initial diagnosis of melanoma; 41% of these biopsies (23/56) were of lesions in normally exposed sites (eg, the face, neck, and forearms) compared with 22% of the melanomas (6/27). LIMITATIONS: Since an invasive melanoma (with the possible exception of a nodular melanoma) would likely have been present for at least a year, plausible explanations for why evidence of previous dermatologic care did not appear to result in earlier detection include performance of a limited rather than a total body skin examination as well as subtle clinical features of early melanomas. However, this study cannot give weight to these explanations because at the time new Pigmented Lesion Clinic patients were not routinely asked about previous total body skin examinations. CONCLUSIONS: The disappointing trends seen in this study, with neither the well-established risk factor of a family history of melanoma nor previously having a skin biopsy predicting thinner melanomas, highlight the need to establish criteria defining the subset of patients for whom appropriate management requires periodic total body skin examination
— id: 115775, year: 2005, vol: 53, page: 393, stat: Journal Article,

X-linked recessive ichthyosis
Hazan, Carole; Orlow, Seth J; Schaffer, Julie V
2005 ;11(4):12-12, Dermatology online journal
A 13-year-old boy presented with a lifelong history of tightly-adherent, brown, polygonal scales that covered the extensor surfaces of the extremities, lateral aspects of the trunk, and neck. The clinical presentation and the history of a similar skin condition in the patient's male maternal relatives helped establish the diagnosis of X-linked recessive ichthyosis (XLI). Systemic manifestations of the steroid sulfatase (STS) deficiency underlying XLI include cryptorchidism, asymptomatic corneal opacities, and maternal failure to progress during labor. Most cases of XLI are caused by deletions of the STS gene, and contiguous gene syndromes may occur when the deletions extend to neighboring genes on the distal short arm of the X chromosome
— id: 66685, year: 2005, vol: 11, page: 12, stat: Journal Article,

Juvenile amyopathic dermatomyositis
Henning, J Scott; Witkiewicz, Agnieszka; Schaffer, Julie V; Orlow, Seth J
2005 ;11(4):11-11, Dermatology online journal
A 3-year-old girl presented with a 6-month history of multiple, light-pink, flat-topped papules over the dorsal aspects of the metacarpophalangeal and interphalangeal joints of the hands and feet. Nailfold telangiectases, ragged cuticles, and a heliotrope color of the upper eyelids were also evident, but there was no clinical evidence of muscle weakness and levels of muscle enzymes were normal. A biopsy specimen from one of the papules showed a vacuolar interface dermatitis consistent with a diagnosis of dermatomyositis. This report draws attention to juvenile amyopathic dermatomyositis, which is an uncommon subtype of dermatomyositis with an excellent prognosis
— id: 66684, year: 2005, vol: 11, page: 11, stat: Journal Article,

Multiple facial angiofibromas: a cutaneous manifestation of Birt-Hogg-Dube syndrome
Schaffer, Julie V; Gohara, Mona A; McNiff, Jennifer M; Aasi, Sumaira Z; Dvoretzky, Israel
2005 Aug;53(2 Suppl 1):S108-S111, Journal of the American Academy of Dermatology
Birt-Hogg-Dube syndrome (BHDS) is an uncommon autosomal dominant genodermatosis characterized by a triad of skin tumors--fibrofolliculomas, trichodiscomas, and acrochordons--together with an increased risk of renal tumors and spontaneous pneumothoraces. This report describes multiple facial angiofibromas as the predominant initial manifestation of BHDS. The patient had a total of 41 facial papules removed via shave excision, initially for diagnostic and then for therapeutic purposes; histologic evaluation revealed diagnostic features of angiofibroma in 39 lesions and fibrofolliculoma in only 2. BHDS should be considered, along with tuberous sclerosis and multiple endocrine neoplasia type 1, in the differential diagnosis of multiple facial angiofibromas, particularly when onset is in adulthood
— id: 115776, year: 2005, vol: 53, page: S108, stat: Journal Article,

Lichen sclerosus and eosinophilic fasciitis as manifestations of chronic graft-versus-host disease: expanding the sclerodermoid spectrum
Schaffer, Julie V; McNiff, Jennifer M; Seropian, Stuart; Cooper, Dennis L; Bolognia, Jean L
2005 Oct;53(4):591-601, Journal of the American Academy of Dermatology
Chronic cutaneous graft-versus-host disease (GVHD) is classically divided into two major clinical categories--lichenoid and sclerodermoid. Although diffuse areas of sclerosis as in scleroderma characterize the more advanced stages of the sclerodermoid form, the initial circumscribed plaques would be more correctly described as morpheaform. Eosinophilic fasciitis (EF) (a fibrosing disorder related to deep morphea) and lichen sclerosus (LS) have also been reported as manifestations of sclerodermoid GVHD. However, these two presentations of GVHD have not been emphasized in the dermatologic literature. We describe 6 patients, all of whom developed LS and two of whom also developed EF in the context of chronic GVHD. Each patient presented clinically with hypopigmented plaques that exhibited wrinkling, scaling, and follicular plugging. These lesions demonstrated the classic histologic features of LS including epidermal atrophy; a subepidermal zone of pale-staining, homogenized collagen; and a bandlike lymphocytic infiltrate. Although all patients eventually developed morpheaform and/or sclerodermoid GVHD, LS was a prominent part of the initial presentation of chronic cutaneous GVHD in every case. The LS lesions tended to occur on the neck and upper to mid aspect of the trunk, whereas morpheaform lesions favored the lower aspect of the trunk. EF involved the extremities (sparing the hands and feet), and was characterized clinically by an acute onset of pain and edema followed by induration with a rippled appearance. This case series serves to expand the spectrum of sclerodermoid GVHD, with LS as the most superficial and EF as its deepest manifestation
— id: 111740, year: 2005, vol: 53, page: 591, stat: Journal Article,

Melanocytic proliferations in the setting of vulvar lichen sclerosus: diagnostic considerations
Schaffer, Julie V; Orlow, Seth J
2005 May-Jun;22(3):276-278, Pediatric dermatology
— id: 114479, year: 2005, vol: 22, page: 276, stat: Journal Article,

Lamellar ichthyosis
Victor, Frank; Schaffer, Julie V
2005 ;11(4):13-13, Dermatology online journal
A 6-year-old African boy with a history of a collodion membrane presented with scale in a generalized distribution and flexural accentuation. Large, brown, polygonal scales were present on the forehead, lateral aspects of the face, and extremities. The nature of the scales and the lack of erythroderma in this patient are consistent with a mild form of lamellar ichthyosis (LI). LI and nonbullous congenital ichthyosiform erythroderma (NBCIE) represent phenotypes at the poles of the autosomal recessive ichthyosis spectrum. Mutations in genes encoding transglutaminase 1 (TGM1), the ABCA12 transporter (ABCA12), ichthyin, lipoxygenase 3 (ALOXE3), and 12(R)-lipoxygenase (ALOX12B) have been shown to underlie both NBCIE and LI
— id: 66686, year: 2005, vol: 11, page: 13, stat: Journal Article,

Calciphylaxis associated with acute, reversible renal failure in the setting of alcoholic cirrhosis
Chavel, Severine M; Taraszka, Karen S; Schaffer, Julie V; Lazova, Rossitza; Schechner, Jeffrey S
2004 May;50(5 Suppl):S125-S128, Journal of the American Academy of Dermatology
We describe a case of calciphylaxis in a 47-year-old man with alcohol-induced end-stage liver disease and acute renal failure secondary to hepatorenal syndrome. Possible contributing factors included transiently impaired renal function, protein C and S deficiencies, elevated calcium-phosphate product, hyperphosphatemia, low serum albumin, repeated albumin infusions, and elevated alkaline phosphatase level
— id: 115777, year: 2004, vol: 50, page: S125, stat: Journal Article,

Cutaneous melanoma--past, present, and future
Schaffer, Julie V; Rigel, Darrell S; Kopf, Alfred W; Bolognia, Jean L
2004 Jul;51(1 Suppl):S65-S69, Journal of the American Academy of Dermatology
— id: 49372, year: 2004, vol: 51, page: S65, stat: Journal Article,

The treatment of hypopigmentation in children
Schaffer, Julie V; Bolognia, Jean L
2003 Jul-Aug;21(4):296-310, Clinics in dermatology
— id: 115778, year: 2003, vol: 21, page: 296, stat: Journal Article,

Speckled lentiginous nevus--classic congenital melanocytic nevus hybrid not the result of "collision"
Schaffer JV; Orlow SJ; Lazova R; Bolognia JL
2001 Dec;137(12):1655-1655, Archives of dermatology
— id: 34787, year: 2001, vol: 137, page: 1655, stat: Journal Article,

Speckled lentiginous nevus: within the spectrum of congenital melanocytic nevi
Schaffer JV; Orlow SJ; Lazova R; Bolognia JL
2001 Feb;137(2):172-178, Archives of dermatology
BACKGROUND: Currently, there is disagreement as to whether speckled lentiginous nevi (nevi spili) are congenital or acquired pigmented lesions. Part of this controversy is related to the natural history of these lesions that often present at birth as hyperpigmented patches and then take several years to reach their more readily recognized spotted form. Arguments in favor of speckled lentiginous nevi as a subtype of congenital nevi include the following observations: multiple reports of lesions present at birth or noted soon thereafter; patterns of distribution reflecting embryonic development; hamartomatous behavior with various types of nevi (eg, junctional nevi, blue nevi, and Spitz nevi) presenting in the same lesion over time; and histologic features of congenital melanocytic nevi within the spots. Herein we present additional evidence for the congenital nature of speckled lentiginous nevi. OBSERVATIONS: Ten patients are described with congenital pigmented lesions that had the clinical appearance of speckled lentiginous nevi in whole or in part. These lesions either evolved and acquired an appearance more suggestive of 'classic' congenital nevi, or they existed as 'hybrid' lesions with portions appearing as classic congenital nevi adjacent to or admixed with portions appearing as speckled lentiginous nevi. On histologic examination, biopsy specimens from the spots within these lesions showed features of congenital melanocytic nevi. CONCLUSIONS: These 10 cases, along with the arguments outlined above, provide strong support for the hypothesis that speckled lentiginous nevi are a subtype of congenital melanocytic nevi
— id: 34790, year: 2001, vol: 137, page: 172, stat: Journal Article,

The melanocortin-1 receptor: red hair and beyond
Schaffer, J V; Bolognia, J L
2001 Nov;137(11):1477-1485, Archives of dermatology
Although human pigmentation is genetically complex, to date polymorphism at only 1 locus, the melanocortin-1 receptor (MC1-R), has been associated with physiologic variation in hair and skin color. The MC1-R, a G protein-coupled receptor with 7 transmembrane-spanning domains, plays a key role in determining the type of melanin (eumelanin vs pheomelanin) that is produced within melanocytes. This article begins with an overview of melanocortin receptors, proopiomelanocortin-derived ligands, and the agouti antagonist, with particular focus on their functions in regulating eumelanin and pheomelanin synthesis, including UV-induced melanogenesis. A brief description of mouse-coat-color genetics is then followed by a discussion of human MC1-R variants, which are present in approximately 50% of white populations. We review the increasing evidence that loss-of-function MC1-R mutations largely account for the red hair phenotype in humans (which approximates an autosomal recessive trait) and also have a strong association with fair skin and a decreased ability to tan, with a significant heterozygote effect in individuals without red hair. Finally, we examine recent work showing that loss-of-function MC1-R variants may increase the risk of developing melanoma and nonmelanoma skin cancer beyond their effects on pigmentation phenotype
— id: 115781, year: 2001, vol: 137, page: 1477, stat: Journal Article,

Perinuclear antineutrophilic cytoplasmic antibody-positive cutaneous polyarteritis nodosa associated with minocycline therapy for acne vulgaris
Schaffer, J V; Davidson, D M; McNiff, J M; Bolognia, J L
2001 Feb;44(2):198-206, Journal of the American Academy of Dermatology
Minocycline is an oral antibiotic widely used for the long-term treatment of acne vulgaris. Unusual side effects of this medication include two overlapping autoimmune syndromes: drug-induced lupus and autoimmune hepatitis. In addition, in a few patients livedo reticularis or subcutaneous nodules have developed in association with arthritis and serum perinuclear antineutrophil cytoplasmic antibodies (P-ANCA) during long-term minocycline therapy. We report the cases of two young women receiving long-term minocycline therapy (>3 years) in whom P-ANCA-positive cutaneous polyarteritis nodosa developed. Both patients presented with a violaceous reticulated pattern on the lower extremities. Histologic examination of biopsy specimens from a reticulated area and a subcutaneous nodule showed necrotizing vasculitis of medium-sized arteries in the deep dermis, consistent with the diagnosis of polyarteritis nodosa. The cutaneous lesions rapidly resolved on discontinuation of minocycline and initiation of prednisone therapy. A high index of suspicion and testing for antineutrophil cytoplasmic antibody in addition to the standard antinuclear antibody panel can facilitate diagnosis of minocycline-related autoimmune disorders
— id: 115783, year: 2001, vol: 44, page: 198, stat: Journal Article,

The eclipse naevus: tan centre with stellate brown rim
Schaffer, J V; Glusac, E J; Bolognia, J L
2001 Dec;145(6):1023-1026, British journal of dermatology
— id: 115779, year: 2001, vol: 145, page: 1023, stat: Journal Article,

Partial unilateral lentiginosis with ocular involvement
Schaffer, J V; Lazova, R; Bolognia, J L
2001 Feb;44(2 Suppl):387-390, Journal of the American Academy of Dermatology
Partial unilateral lentiginosis (PUL) is an unusual pigmentary disorder characterized by numerous lentigines grouped within an area of normal skin; the pigmented macules are often in a segmental distribution with a sharp demarcation at the midline. We report the first case of ocular involvement in a patient with this diagnosis. The patient, a 30-year-old Peruvian woman, had multiple brown macules on the left upper face in primarily a V1 and V2 distribution with a sharp demarcation at the midline of the forehead. The lesions first appeared near the hairline when she was 5 years of age, and then began to extend onto the face. She also had a discrete area of brown pigmentation on the left lateral bulbar conjunctiva. Because the patient had been previously diagnosed by several dermatologists as having either a speckled lentiginous nevus or a nevus of Ota, we draw attention to the entity PUL and the possibility of ocular involvement
— id: 115782, year: 2001, vol: 44, page: 387, stat: Journal Article,

Cerebral mass due to neurocutaneous melanosis: eight years later
Schaffer, J V; McNiff, J M; Bolognia, J L
2001 Sep-Oct;18(5):369-377, Pediatric dermatology
Neurocutaneous melanosis (NCM) is associated most commonly with giant congenital melanocytic nevi (CMN), in particular those on the scalp or in a posterior axial location that are accompanied by satellite congenital nevi. It also can occur in patients with multiple medium-sized CMN. In general, the prognosis of those with symptomatic NCM is poor, even in the absence of malignancy, while the prognosis of those with asymptomatic NCM detected via screening varies and is more difficult to predict. Herein we report an asymptomatic patient with a giant CMN and multiple satellite nevi who had a screening magnetic resonance imaging (MRI) study at age 5 months that showed a rounded area of increased signal in the right temporal lobe on T1-weighted images, suggestive of parenchymal melanosis. This melanotic mass was resected at age 10 months, and histologic examination of the surgical specimen showed prominent perivascular collections of benign, pigment-containing melanocytes within cerebral tissue. The patient remains healthy 8 years later. His excellent long-term outcome and other reports of NCM with localized central nervous system (CNS) involvement apparent on MRI may have implications for management, including early imaging of patients with high-risk CMN and potential surgical intervention for NCM
— id: 115780, year: 2001, vol: 18, page: 369, stat: Journal Article,

Detection of deep venous thrombosis by DMP 444, a platelet IIb/IIIa antagonist: a preliminary report
Klem, J A; Schaffer, J V; Crane, P D; Barrett, J A; Henry, G A; Canestri, L; Ezekowitz, M D
2000 Jul-Aug;7(4):359-364, Journal of nuclear cardiology
BACKGROUND: We report a method for detection of deep venous thrombosis with a technetium 99m-labeled peptide (DMP 444). The N-methyl-arginine-glycine-aspartic acid sequence on DMP 444 binds the glycoprotein IIb/IIIa receptor on activated platelets (inhibition constant [IC50] for fibrinogen binding = 6 nmol/L). METHODS: DMP 444 (23 to 27 mCi) was injected into 11 patients with clinical suspicion of deep venous thrombosis, diagnostic confirmation by ultrasound, and a positive D-dimer test result. Planar images in the anterior and posterior projections were obtained at 10 to 40 minutes, 50 to 80 minutes, and 120 to 150 minutes after injection. RESULTS: No clinically significant adverse effects were noted after DMP 444 administration. One patient (excluded from the analysis) withdrew consent, so image acquisition was not complete. By 10 to 40 minutes after injection, 8 of 10 patients demonstrated an area of increased activity that was clearly related to the abnormality noted on ultrasound. Most patients were taking warfarin (Coumadin) and heparin (n = 8) or heparin (n = 1) and warfarin (n = 1) alone at the time of the imaging. The average time from onset of symptoms to injection of DMP 444 was 5 days (range 1 to 18 days). CONCLUSION: These preliminary human studies indicate that DMP 444 is safe and may be of value in the diagnosis of deep venous thrombosis
— id: 115785, year: 2000, vol: 7, page: 359, stat: Journal Article,

The clinical spectrum of pigmented lesions
Schaffer, J V; Bolognia, J L
2000 Jul;27(3):391-408, viii, Clinics in plastic surgery
This article presents the clinical features of a spectrum of pigmented lesions. It begins with benign lesions that may be confused with melanocytic nevi, such as lentigines, seborrheic keratoses, and dermatofibromas. The next section focuses on the various types of melanocytic nevi, including congenital, blue, and Spitz nevi. A description of atypical nevi is provided, followed by an outline of the clinical characteristics of each subtype of cutaneous melanoma. The clinical characteristics of various pigmented lesions are illustrated
— id: 115786, year: 2000, vol: 27, page: 391, stat: Journal Article,

Return of hyperpigmentation within a cafe-au-lait macule following treatment of vitiligo
Schaffer, J V; Bolognia, J L; Watsky, K
2000 ;201(3):283-284, Dermatology
— id: 115784, year: 2000, vol: 201, page: 283, stat: Journal Article,

Postirradiation morphea of the breast presentation of two cases and review of the literature
Schaffer, J V; Carroll, C; Dvoretsky, I; Huether, M J; Girardi, M
2000 ;200(1):67-71, Dermatology
The advent of radiation therapy as a common modality in the treatment and palliation of breast cancer has led to the observation of morphea developing months to years after supervoltage radiation therapy, in and around the site of treatment. We report 2 new cases of morphea at the site of previous supervoltage radiation therapy for breast cancer. The time period between irradiation and onset of morphea in our 2 patients were an atypically long 6.5 years and 32 years, the latter being the longest reported such interval. With conservative treatment, the inflammatory component of the lesions resolved over an approximately 1-year period, leaving residual sclerosis. These patients are compared to those previously reported in the medical literature so as to summarize the range of clinical presentation and course. Recognition of postirradiation morphea is important in distinguishing it from infectious cellulitis, recurrent carcinoma, metastatic carcinoma or development of a second primary carcinoma
— id: 115787, year: 2000, vol: 200, page: 67, stat: Journal Article,

Urogenital effects of the menopause
Schaffer J; Fantl JA
1996 Sep;10(3):401-417, Bailliere's clinical obstetrics & gynaecology
— id: 21748, year: 1996, vol: 10, page: 401, stat: Journal Article,