Subject(s)
Stevens-Johnson Syndrome , Child , Humans , Retrospective Studies , Stevens-Johnson Syndrome/therapy , Research , North AmericaABSTRACT
Desmoplakin mutations are associated with a wide variety of phenotypes affecting the skin, nails, hair, and heart. A 21-month-old boy was born with multiple erosions resembling epidermolysis bullosa, complete alopecia, nail dystrophy, palmoplantar keratoderma, and areas of follicular hyperkeratosis. He was found to have two heterozygous mutations in the desmoplakin gene: c.478 C>T in exon 4 (p.Arg160X) and c.3630T>A in exon 23 (Tyr1210X). This case expands the clinical spectrum associated with desmoplakin mutations and highlights a mutation in exon 23 that has not been previously reported in the literature.
Subject(s)
Desmoplakins/genetics , Alopecia/complications , Alopecia/genetics , Humans , Infant , Keratoderma, Palmoplantar/complications , Keratoderma, Palmoplantar/genetics , Male , Mutation , Nails, Malformed/complications , Nails, Malformed/genetics , Phenotype , Skin Abnormalities/complications , Skin Abnormalities/geneticsABSTRACT
OBJECTIVE: To describe the clinical presentation and risk of PHACE syndrome in infants with large facial hemangiomas and concomitant airway hemangiomas. DESIGN: The study involved a case series of infants with cutaneous hemangiomas and airway hemangiomas extracted from a prospective multicenter cohort study. Data regarding clinical features, diagnosis, treatment, and clinical course were obtained from medical charts and physician intake forms. All patients were evaluated for PHACE syndrome using a standardized protocol. SETTING: Six academic pediatric dermatology clinics. PATIENTS: The study included 17 patients younger than 1 year who were diagnosed as having large (>22 cm(2)) facial hemangiomas and airway hemangiomas. RESULTS: Thirteen patients (76%) had hemangiomas in the bilateral mandibular distribution. Other observed facial patterns included limited involvement of the lip and chin, unilateral reticular frontotemporal and preauricular hemangiomas, and large unilateral hemifacial hemangiomas. Fourteen patients (82%) had symptomatic airway involvement. All symptomatic patients had subglottic airway hemangiomas. The airway hemangioma was circumferential in 10 patients (58%) and more focal in distribution in 7 patients (42%). All patients were treated with oral prednisolone. Eleven patients required additional multimodal therapy. Eight patients (47%) met the criteria for PHACE syndrome. CONCLUSIONS: Airway hemangiomas represent a potentially fatal complication of infantile hemangiomas. Our data highlight cutaneous presentations in patients with subglottic hemangiomas and large (>22 cm(2)) cutaneous hemangiomas. PHACE syndrome was detected in 8 such patients (47%) in our series.
