Grouped papules in Hurler-Scheie syndrome

James A. Schiro, Susan B. Mallory*, Laurie Demmer, S. Bruce Dowton, Markham C. Luke

*Corresponding author for this work

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

In a patient with Hurler-Scheie syndrome, a type of mucopolysaccharidosis (1 H/S), an initial presentation was grouped papules on the extensor surfaces on the upper portions of the arms and legs. Other physical findings included progressive flexion contractures and mild developmental delay. The patient had deficient alpha-L-iduronidase activity, and electron microscopy showed large cytoplasmic vacuoles and lysosomes, consistent with Hurler-Scheie syndrome. Findings of grouped papules have not been previously reported in patients with this syndrome.

Original languageEnglish
Pages (from-to)868-870
Number of pages3
JournalJournal of the American Academy of Dermatology
Volume35
Issue number5 II
Publication statusPublished - Nov 1996
Externally publishedYes

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