| Association of Piebaldism, Multiple Café-au-lait Macules, and Intertriginous Freckling: Clinical Evidence of a Common Pathway between KIT and Sprouty-Related, Ena/Vasodilator-Stimulated Phosphoprotein Homology-1 Domain Containing Protein 1 (SPRED1). | |
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MedLine Citation:
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PMID: 23016555 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Piebaldism is a rare genodermatosis caused by KIT mutations. We report the case of a 5-year-old boy who had the white forelock and leukoderma of piebaldism, but the presence of many café-au-lait macules and axillary and inguinal freckling complicated the diagnosis. Patients with similar cutaneous findings have been previously reported, and their disorder has been attributed to an overlap of piebaldism and neurofibromatosis type 1. Legius syndrome is a recently described syndrome caused by Sprouty-related, Ena/vasodilator-stimulated phosphoprotein homology-1 domain containing protein 1 (SPRED1) mutations that also has multiple café-au-lait macules and intertriginous freckling. Based on our current understanding of KIT and SPRED1 protein interactions, we propose that café-au-lait macules and freckling may be seen in some patients with piebaldism and does not necessarily represent coexistence of neurofibromatosis type 1. |
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Authors:
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Yvonne E Chiu; Stefanie Dugan; Donald Basel; Dawn H Siegel |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-9-28 |
Journal Detail:
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Title: Pediatric dermatology Volume: - ISSN: 1525-1470 ISO Abbreviation: Pediatr Dermatol Publication Date: 2012 Sep |
Date Detail:
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Created Date: 2012-9-28 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8406799 Medline TA: Pediatr Dermatol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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© 2012 Wiley Periodicals, Inc. |
Affiliation:
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Division of Pediatric Dermatology, Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin Genetics Center, Children's Hospital of Wisconsin, Milwaukee, Wisconsin Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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