Grouped papules in Hurler-Scheie syndrome

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

Research output: Contribution to journalArticleResearchpeer-review

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.

LanguageEnglish
Pages868-870
Number of pages3
JournalJournal of the American Academy of Dermatology
Volume35
Issue number5 II
Publication statusPublished - Nov 1996
Externally publishedYes

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Mucopolysaccharidosis I
Iduronidase
Contracture
Vacuoles
Lysosomes
Leg
Electron Microscopy
Arm

Cite this

Schiro, J. A., Mallory, S. B., Demmer, L., Dowton, S. B., & Luke, M. C. (1996). Grouped papules in Hurler-Scheie syndrome. Journal of the American Academy of Dermatology, 35(5 II), 868-870.
Schiro, James A. ; Mallory, Susan B. ; Demmer, Laurie ; Dowton, S. Bruce ; Luke, Markham C. / Grouped papules in Hurler-Scheie syndrome. In: Journal of the American Academy of Dermatology. 1996 ; Vol. 35, No. 5 II. pp. 868-870.
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Schiro, JA, Mallory, SB, Demmer, L, Dowton, SB & Luke, MC 1996, 'Grouped papules in Hurler-Scheie syndrome', Journal of the American Academy of Dermatology, vol. 35, no. 5 II, pp. 868-870.

Grouped papules in Hurler-Scheie syndrome. / Schiro, James A.; Mallory, Susan B.; Demmer, Laurie; Dowton, S. Bruce; Luke, Markham C.

In: Journal of the American Academy of Dermatology, Vol. 35, No. 5 II, 11.1996, p. 868-870.

Research output: Contribution to journalArticleResearchpeer-review

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Schiro JA, Mallory SB, Demmer L, Dowton SB, Luke MC. Grouped papules in Hurler-Scheie syndrome. Journal of the American Academy of Dermatology. 1996 Nov;35(5 II):868-870.