[MULTIPLE CAFÉ-AU-LAIT MACULES AND INTERTRIGINOUS FRECKLING: BEYOND THE RASOPATHIES].

Abstract

INTRODUCTION:

Piebaldism is the dominantly inherited skin disorder clinically characterized by congenital stable and well circumscribed patches of leukoderma (depigmented skin) of ventral distribution, involving central forehead, frontal chest and abdomen and central portion of limbs, and by localized poliosis (white hair). Inherited or de novo mutations in proto-oncogene KIT, encoding the transmembrane tyrosine kinase receptor c-kit, underly the majority of piebaldism cases. Piebaldism is a disorder characterized by incomplete penetrance and variable expressivity.

• Authors: Marina Eskin-Schwartz, Elena Mashkit, Ohad S Birk
• Journal: Harefuah (Harefuah) Vol. 162 Issue 6 Pg. 362-365 (Jun 2023) ISSN: 0017-7768 [Print] Israel
• PMID: 37394438 (Publication Type: English Abstract, Journal Article)

Chemical References

• Proto-Oncogene Proteins c-kit

Topics

• Humans
• Piebaldism (genetics)
• Proto-Oncogene Proteins c-kit (genetics)
• Cafe-au-Lait Spots (genetics)