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

Authors :
Eskin-Schwartz M
Mashkit E
Birk OS
Source :
Harefuah [Harefuah] 2023 Jun; Vol. 162 (6), pp. 362-365.
Publication Year :
2023

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.

Details

Language :
Hebrew
ISSN :
0017-7768
Volume :
162
Issue :
6
Database :
MEDLINE
Journal :
Harefuah
Publication Type :
Academic Journal
Accession number :
37394438