Document Detail

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).
MedLine Citation:
PMID:  23016555     Owner:  NLM     Status:  MEDLINE    
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.
Yvonne E Chiu; Stefanie Dugan; Donald Basel; Dawn H Siegel
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2012-09-28
Journal Detail:
Title:  Pediatric dermatology     Volume:  30     ISSN:  1525-1470     ISO Abbreviation:  Pediatr Dermatol     Publication Date:    2013 May-Jun
Date Detail:
Created Date:  2013-04-26     Completed Date:  2014-01-16     Revised Date:  2014-03-31    
Medline Journal Info:
Nlm Unique ID:  8406799     Medline TA:  Pediatr Dermatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  379-82     Citation Subset:  IM    
Copyright Information:
© 2012 Wiley Periodicals, Inc.
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MeSH Terms
Cafe-au-Lait Spots / genetics,  pathology
Child, Preschool
Family Health
Intracellular Signaling Peptides and Proteins / genetics*
Melanosis / genetics,  pathology
Membrane Proteins / genetics*
Piebaldism / genetics*,  pathology*
Proto-Oncogene Proteins c-kit / genetics*
Grant Support
Reg. No./Substance:
0/Intracellular Signaling Peptides and Proteins; 0/Membrane Proteins; 0/SPRED1 protein, human; EC Proteins c-kit

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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