| Grouped papules in Hurler-Scheie syndrome. | |
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MedLine Citation:
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PMID: 8912609 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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In a patient with Hurler-Scheie syndrome, a type of mucopolysaccharidosis (I 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-induronidase 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. |
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Authors:
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J A Schiro; S B Mallory; L Demmer; S B Dowton; M C Luke |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Journal of the American Academy of Dermatology Volume: 35 ISSN: 0190-9622 ISO Abbreviation: J. Am. Acad. Dermatol. Publication Date: 1996 Nov |
Date Detail:
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Created Date: 1996-12-17 Completed Date: 1996-12-17 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7907132 Medline TA: J Am Acad Dermatol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 868-70 Citation Subset: IM |
Affiliation:
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Division of Dermatology, Washington University School of Medicine, St. Louis, Missouri, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Child, Preschool Humans Male Mucopolysaccharidosis I / complications* Skin Diseases, Papulosquamous / etiology* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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