title: Fabry disease: an atypical presentation.
abstract: 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.
authors.affiliation: Department of Pediatrics, Long Island College Hospital, Brooklyn, New York, NY 10016, USA.
authors.forename: Sourab
authors.initials: S
authors.lastname: Choudhury
authors.forename: Shane
authors.initials: S
authors.lastname: Meehan
authors.forename: Helen T
authors.initials: HT
authors.lastname: Shin
mesh_terms: D000794:Angiokeratoma / Q000209:etiology*; D002648:Child; D000795:Fabry Disease / Q000175:diagnosis*; D006801:Humans; D008297:Male; D012878:Skin Neoplasms / Q000209:etiology*