title: 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).
abstract: 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.
authors.affiliation: Division of Pediatric Dermatology, Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA. ychiu@mcw.edu
authors.forename: Yvonne E
authors.initials: YE
authors.lastname: Chiu
authors.forename: Stefanie
authors.initials: S
authors.lastname: Dugan
authors.forename: Donald
authors.initials: D
authors.lastname: Basel
authors.forename: Dawn H
authors.initials: DH
authors.lastname: Siegel
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D019080:Cafe-au-Lait Spots / Q000235:genetics / Q000473:pathology; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008548:Melanosis / Q000235:genetics / Q000473:pathology; D008565:Membrane Proteins / Q000235:genetics*; D010375:Pedigree; D016116:Piebaldism / Q000235:genetics* / Q000473:pathology*; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C504812:SPRED1 protein, human; D019009:Proto-Oncogene Proteins c-kit