نتایج جستجو برای: piebaldism

تعداد نتایج: 207  

2013
Yong-jia Yang Rui Zhao Xin-yu He Li-ping Li Ke-wei Wang Liu Zhao Ming Tu Jin-song Tang Zhi-guo Xie Yi-min Zhu

Piebaldism is a rare autosomal dominant disorder of melanocyte development, which is mostly caused by KIT gene. The key characteristics of piebaldism include localized poliosis, congenital leukoderma, and other variable manifestations. The previous study has illustrated that the homogeneous MC1R (a gene which is associated with the hair color) variant (p.I120T) coordinating with KIT mutation ma...

Journal: :American journal of medical genetics. Part A 2012
Cathy A Stevens Pei-Wen Chiang Ludwine M Messiaen

Piebaldism is an autosomal dominant disorder characterized by congenital hypopigmented patches of skin and hair and has been found to be associated with mutations in the KIT or SLUG genes. Café-au-lait macules (CALM) may occasionally be seen in piebaldism. There are four reports describing six patients who were said to have both piebaldism and neurofibromatosis type 1 (NF1) due to the presence ...

Journal: :The Journal of Dermatology 2012

Journal: :Anais brasileiros de dermatologia 2010
Daniela Rezende Neves José Rogério Régis Júnior Patrícia Jannuzzi Vieira e Oliveira Renata Indelicato Zac Kleber de Sousa Silveira

Piebaldism is a rare genodermatosis in which depigmented skin areas are unresponsive to topical or light treatment. This article describes the importance of transplant techniques using noncultured melanocytes (minigrafting) in the treatment of piebaldism.

2013
Digafe Alembo

Copyright: © 2013 Alembo D. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Piebaldism and Neurofibromatosis type -1: Family Report Familial Case of Piebaldism with Regression of the Depigmentation over the Trunk

2015
Wei-Xue Jia Xue-Min Xiao Jian-Bing Wu Yi-Ping Ma Yi-Ping Ge Qi Li Qiu-Xia Mao Cheng-Rang Li

Piebaldism is a rare autosomal dominant genodermatosis, manifesting as congenital and stable depigmentation of the skin and white forelock. It has been found to be associated with mutations in the KIT or SLUG genes. We report a Chinese piebaldism family including a 28-year-old woman and her 3-year-old son with characteristics of white patches and forelock associated with numerous brown macules ...

2017
Fatima Zahra Debbarh Fatima Zahra Mernissi

Piebaldism is a rare autosomal dominant genodermatosis. It is due to congenital absence of melanocytes in the affected areas. We report a case. A 5 year old girl born to consanguineous parents and with similar cases in her mother’s; she presented since birth achromic lesions on the legs with a steady evolution. clinical examination showed confluent achromic macules and poliosis (A) with no cont...

Journal: :Medicinski pregled 2014
Olgica Milankov Radojica Savić Anica Radulović

INTRODUCTION Piebaldism is an autosomal dominant disorder characterized by the congenital absence of melanocytes in the affected areas of skin and hair due to mutations of the KIT protooncogene, which affects the differentiation and migration of melanoblasts. CASE REPORT A 3 1/2 month old male infant was admitted to hospital due to depigmentation of skin in the area of forehead, trunk and ext...

Journal: :Cutis 2016
Alexandra Grob Steven Grekin

Piebaldism is a rare autosomal-dominant disorder of melanocyte development characterized by congenital poliosis and stable patches of leukoderma. Initially, these clinical features may be the presenting signs of various syndromes or associated diseases, which should be considered in the differential diagnosis. We present the case of a 14-year-old adolescent girl with piebaldism, along with a re...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1991
L B Giebel R A Spritz

Piebaldism is an autosomal dominant genetic disorder characterized by cogenital patches of skin and hair from which melanocytes are completely absent. A similar disorder of mouse, dominant white spotting (W), results from mutations of the c-Kit protooncogene, which encodes and receptor for mast/stem cell growth factor. We identified a KIT gene mutation in a proband with classic autosomal domina...

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