A novel association between angiokeratoma corporis diffusum and acid sphingomyelinase deficiency
Abstract
Angiokeratoma corporis diffusum refers to symmetrical clusters of minute red papules in a “bathing trunk” distribution and is considered the cutaneous hallmark of Fabry disease. Acid sphingomyelinase deficiency is an autosomal recessive sphingolipidosis, which presents with massive hepatosplenomegaly, pulmonary infiltrates, and skeletal abnormalities. We present the unusual case of a 12‐year‐old girl with acid sphingomyelinase deficiency who...
Paper Details
Title
A novel association between angiokeratoma corporis diffusum and acid sphingomyelinase deficiency
Published Date
Oct 2, 2019
Journal
Volume
36
Issue
6
Pages
906 - 908
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