Piebaldism: an autonomous autosomal dominant entity

Abstract

Piebaldism is a disorder in which the major clinical features are patchy hypopigmentation of the skin and a white forelock. The manifestations of piebaldism overlap with those of other genodermatoses, in particular the Waardenburg syndrome, and it is uncertain whether piebaldism is a distinct entity. We have documented a family in which seven affected members in three generations have gross piebaldism without any additional stigmata. The intrafamilial phenotypic consistency is suggestive that this autosomal dominant disorder has independent syndromic status. Linkage studies using conventional gene markers failed to identity the locus of the faulty gene.

Tumor-intrinsic and -extrinsic roles of c-Kit: mast cells as the primary off-target of tyrosine kinase inhibitors

“…c-Kit is essential for melanogenesis, as demonstrated by the pigmentation defects of mice and humans with loss-of-function mutations in c-Kit (Silvers, 1979;Winship et al, 1991). However, past works, showing that c-Kit expression is usually lost in melanomas (Lassam and Bickford, 1992) and that its restoration in metastatic melanoma cells even results in tumor apoptosis (Huang et al, 1996), pointed to the idea that c-Kit did not play a role in promoting melanomas.…”

A Bedouin kindred with 19 piebalds in 5 generations

“…In South Africa, Selmanowitz et al (1977) published a pedigree with at least 10 piebalds in four generations. Winship et al (1991) reported seven piebalds in three generations living in a rural community east of Cape Town. The founder came from the Xhosa tribe.…”

Piebaldism in To Balo, South Sulawesi: Brief Report and Literature Review

“…Oiso et al (2013), stated that piebaldism illustrated by congenital white skin, commonly known as leukoderma and white hair (poliosis) on the frontal scalp, forehead, ventral trunk, and extremities. Winship et al (1991) have studied a South African family in which nine members extend four generations had piebaldism, and it is shown in the pedigree was indicates autosomal dominant inheritance. To Balo lives in a distant place in the Bulu Pao Mountains, which stretch across the Barru and Pangkep town, Pujananting District, South Sulawesi.…”