Eskin-Schwartz Marina, Mashkit Elena, Birk Ohad S
Genetics Institute, Soroka University Medical Center, Beer-Sheva, Israel, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Genetics Institute, Soroka University Medical Center, Beer-Sheva, Israel.
Harefuah. 2023 Jun;162(6):362-365.
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.
斑驳病是一种常染色体显性遗传性皮肤病，临床特征为先天性、稳定且边界清晰的白斑（皮肤色素脱失），分布于身体腹侧，累及前额中部、胸前、腹部及四肢中部，同时伴有局限性白发。原癌基因KIT编码跨膜酪氨酸激酶受体c-kit，该基因的遗传性或新发突变是大多数斑驳病病例的发病基础。斑驳病具有不完全外显率和可变表达性的特点。
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