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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 May-Jun;30(3):379-82 PMID: 23016555 PMCID: PMC3967413

Pubmed ID

23016555

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.

Author List

Chiu YE, Dugan S, Basel D, Siegel DH

Authors

Donald Basel MD Chief, Associate Professor in the Pediatrics department at Medical College of Wisconsin
Yvonne E. Chiu MD Associate Professor in the Dermatology department at Medical College of Wisconsin
Dawn Siegel MD Associate Professor in the Dermatology department at Medical College of Wisconsin




Scopus

2-s2.0-84876923220   13 Citations

MESH terms used to index this publication - Major topics in bold

Cafe-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
jenkins-FCD Prod-300 626508253d14e4184314fb9f66322a03a5906796