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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
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
PMID: 19289759
ISSN: 0003-987x
CID: 107820

Syringocystadenoma papilliferum in a patient with focal dermal hypoplasia due to a novel PORCN mutation [Letter]

Schaffer, Julie V; Cantatore-Francis, Julie L; Shin, Helen T; Rosenman, Karla S
PMID: 19221286
ISSN: 1538-3652
CID: 94714

"Pediatric blaschkitis": expanding the spectrum of childhood acquired Blaschko-linear dermatoses [Case Report]

Keegan, Brian R; Kamino, Hideko; Fangman, William; Shin, Helen T; Orlow, Seth J; Schaffer, Julie V
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
PMID: 18035983
ISSN: 1525-1470
CID: 75486

Erythema multiforme limited to the oral mucosa in a teenager on oral contraceptive therapy [Case Report]

Jawetz, Robert E; Elkin, Avigayil; Michael, Lisa; Jawetz, Sheryl A; Shin, Helen T
BACKGROUND: Erythema multiforme has been linked to numerous drugs and infectious agents. A link to oral contraceptive use has been reported in the past in the adult population but thus far has not been reported in children or adolescents. CASE: We report the case of an 18-yr-old female who developed oral erosions consistent with erythema multiforme two and a half weeks after initiating therapy with an oral contraceptive agent. A thorough examination for other inciting factors was negative, and the lesions slowly resolved over the course of 3 weeks. CONCLUSIONS: This case illustrates that erythema multiforme should be considered in the differential diagnosis of adolescents with oral erosions who have been prescribed oral contraceptives
PMID: 17868899
ISSN: 1083-3188
CID: 94715

Mycophenolate mofetil for severe childhood atopic dermatitis: experience in 14 patients

Heller, M; Shin, H T; Orlow, S J; Schaffer, J V
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
PMID: 17489974
ISSN: 0007-0963
CID: 73948

Primary cutaneous zygomycosis in two immunocompromised children [Case Report]

Cantatore-Francis, Julie L; Shin, Helen T; Heilman, Edward; Glick, Sharon A
Zygomycosis, often referred to as ''mucormycosis'' or ''phycomycosis,'' is a rapidly progressive fungal infection which usually occurs in immunocompromised individuals, and is characterized by soft tissue destruction and invasion of blood vessels. The rare and easily misdiagnosed primary cutaneous form may present as a superficial erosion with a painless, gradual onset and slow progression of symptoms or a gangrenous, necrotic ulceration due to rapid tissue and vascular invasion. With the latter form, the mortality rate among affected individuals is high even after aggressive surgical debridement and amphotericin B administration, emphasizing the importance of early recognition and proper diagnosis. We present two instances of gangrenous cutaneous zygomycosis in immunocompromised children and review the literature with regard to etiology, diagnosis and treatment, highlighting the pediatric population
PMID: 17542876
ISSN: 0736-8046
CID: 94716

Ulcerated haemangioma of infancy: a retrospective review of 47 patients [Letter]

Shin, H T; Orlow, S J; Chang, M W
PMID: 17326746
ISSN: 0007-0963
CID: 107821

Widespread granulomatous dermatitis of infancy: an early sign of Blau syndrome [Case Report]

Schaffer, Julie V; Chandra, Pranil; Keegan, Brian R; Heller, Patricia; Shin, Helen T
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
PMID: 17372104
ISSN: 0003-987x
CID: 72075

Confluent and reticulated papillomatosis associated with tinea versicolor in three siblings [Case Report]

Stein, Jennifer A; Shin, Helen T; Chang, Mary Wu
We describe three teenage siblings with confluent and reticulated papillomatosis, all presenting during a 6-month period. Two of the three patients had confirmed tinea versicolor, with positive potassium hydroxide scrapings, in association with this entity. This is the largest series of siblings with confluent and reticulated papillomatosis, and the only report describing family members having both confluent and reticulated papillomatosis and tinea versicolor. This report lends further evidence to the hypothesis that confluent and reticulated papillomatosis may be etiologically linked to tinea versicolor, and also suggests a genetic predisposition for it
PMID: 16060870
ISSN: 0736-8046
CID: 61333

Fabry disease: an atypical presentation [Case Report]

Choudhury, Sourab; Meehan, Shane; Shin, Helen T
Fabry disease is a rare X-linked recessive lysosomal storage disease. Patients typically have angiokeratomas distributed between the umbilicus and knees, painful crises of the hands and feet, and renal, ophthalmologic, and cardiac abnormalities. An 11-year-old boy presented with a 6-year history of widespread petechial-like lesions and painful crises of the hands and feet. On physical examination, he had numerous erythematous, nonblanching pinpoint macules and rare papules with an overlying crust. These lesions were widely distributed on his trunk, palms, and soles, while sparing the area between the umbilicus and knees. Histologic evaluation of one of these lesions found several dilated, blood-filled vessels in the upper dermis beneath a thinned epidermis. The patient also had markedly decreased alpha galactosidase A levels. Although the distribution of the angiokeratomas was atypical, the clinical and histologic findings were consistent with a diagnosis of Fabry disease
PMID: 16060871
ISSN: 0736-8046
CID: 94717