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). Pediatr Dermatol 2013;30(3):379-82
Date
09/29/2012Pubmed ID
23016555Pubmed Central ID
PMC3967413DOI
10.1111/j.1525-1470.2012.01858.xScopus ID
2-s2.0-84876923220 (requires institutional sign-in at Scopus site) 20 CitationsAbstract
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.
Author List
Chiu YE, Dugan S, Basel D, Siegel DHAuthors
Donald Basel MD Chief, Professor in the Pediatrics department at Medical College of WisconsinYvonne E. Chiu MD Vice Chair, Professor in the Dermatology department at Medical College of Wisconsin
MESH terms used to index this publication - Major topics in bold
Adaptor Proteins, Signal TransducingCafe-au-Lait Spots
Child, Preschool
Family Health
Female
Humans
Intracellular Signaling Peptides and Proteins
Male
Melanosis
Membrane Proteins
Pedigree
Piebaldism
Proto-Oncogene Proteins c-kit
