Results 11 to 20 of about 880 (178)
Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011 Identity Defect in melanocyte development; one of the first genetic disorders for which a pedigree was presented in 1786. Inheritance Autosomal dominant; frequency is about 2.5/105 newborns.
L. Larizza, A. Beghini
core +6 more sources
The Journal of Dermatology, 2012 AbstractPiebaldism is an uncommon autosomal dominantly inherited pigment anomaly characterized by a congenital white forelock and leukoderma on the frontal scalp, forehead, ventral trunk and extremities. It is caused by a loss‐of‐function mutation in the KIT gene.
Naoki, Oiso +3 more
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Phenotype of piebaldism resulted from heterozygous large fragment KIT deletion in one family [PDF]
Jichu yixue yu linchuangObjective To identify the pathogenic mutations in a family with piebaldism. Methods Clinical information and peripheral blood were collected from the patient with piebaldism and their parents.
ZHANG Rui, TAN Yan, MA Donglai, WANG Rongrong, ZHANG Xue
doaj +2 more sources
Piebaldism-Moebius and prenatal exposure to misoprostol: a case report
Iatreia, 2016 Piebaldism is a rare congenital disease with prevalence of 1/100.000, characterized by patchy depigmentation of the skin and the presence of a white forelock. Its course is static and otherwise patients are healthy.
Mendoza-Urbano, Diana Marcela +2 more
doaj +2 more sources
Piebaldism: a case report and review of the literature [PDF]
MedUNAB, 2006 We report the case of a girl of 2 months of age with achromic maculesin face, trunk and extremities and white forelock frontal from thebirth that corresponds to Piebaldism.
Hernando Mosquera Sánchez +1 more
doaj +1 more source
Molecular Basis of Human Piebaldism
Journal of Investigative Dermatology, 1994 Piebaldism is an autosomal dominant genetic disorder of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes. Piebaldism results from mutations of the KIT proto-oncogene, which encodes the cell-surface receptor transmembrane tyrosine kinase for an embryonic growth factor, Steel factor.
Spritz, Richard A
openaire +3 more sources
Anais Brasileiros de Dermatologia, 2010 O piebaldismo é uma genodermatose rara onde as lesões acrômicas não respondem aos tratamentos tópico e fototerápico. Este artigo tem como objetivo demonstrar a importância do transplante de melanócitos, usando a técnica de minigrafting no tratamento do ...
Daniela Rezende Neves +4 more
doaj +2 more sources
Therapeutics and Clinical Risk Management, 2015 Wei-Xue Jia,1,2 Xue-Min Xiao,1,2 Jian-Bing Wu,1,2 Yi-Ping Ma,1,2 Yi-Ping Ge,1,2 Qi Li,1,2 Qiu-Xia Mao,1,2 Cheng-Rang Li1,2 1Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China; 2Jiangsu
Jia WX +7 more
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Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism [PDF]
Medicina, 2019 Congenital sensorineural hearing loss may occur in association with inborn pigmentary defects of the iris, hair, and skin. These conditions, named auditory-pigmentary disorders (APDs), represent extremely heterogeneous hereditary diseases, including ...
Laura Cristina Gironi +10 more
doaj +2 more sources