alexa Pigment Genodermatoses Affecting Melanocyte Development and Migration from the Neural Crest: Piebaldism, Waardenburg Syndrome and Cross- McKusick-Breen Syndrome
ISSN: 2376-0427

Dermatology and Dermatologic Diseases
Open Access

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Previously: Journal of Pigmentary Disorders

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Review Article

Pigment Genodermatoses Affecting Melanocyte Development and Migration from the Neural Crest: Piebaldism, Waardenburg Syndrome and Cross- McKusick-Breen Syndrome

Foteini Chatzinasiou1*, Alexander Stratigos2 and Dimitrios Rigopoulos1
1Department of Dermatology and Venereology, University Hospital “Andreas Sygros” Hospital, Athens, Greece
2Department of Dermatology and Venereology, University Hospital ATTIKON, Athens, Greece
Corresponding Author : Foteini Chatzinasiou
Department of Dermatology and
Venereology, University Hospital ATTIKON
Rimini 1, 124 62, Athens, Greece
E-mail: [email protected]
Received January 23, 2015; Accepted February 17, 2015; Published February 22, 2015
Citation: Chatzinasiou F, Stratigos A, Rigopoulos D (2015) Pigment Genodermatoses Affecting Melanocyte Development and Migration from the Neural Crest: Piebaldism, Waardenburg Syndrome and Cross-McKusick-Breen Syndrome. Pigmentary Disorders 2:168. doi:10.4172/2376-0427.1000168
Copyright: © 2015 Chatzinasiou F, et al. 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.
 

Abstract

Piebaldism, Waardenburg syndrome and Cross-McKusick-Breen syndrome are rare disorders characterized by congenital skin and hair hypopigmentation. Piebaldism is inherited in an autosomal dominant pattern and Waardenburg syndrome is mostly transmitted in an autosomal dominant manner. These diseases are caused by abnormal migration of melanoblasts from the neuroectoderm into the skin. Cross-McKusick-Breen syndrome is an autosomal recessive disorder in which the epidermal melanocyte numbers are normal, but most melanosomes are in stage II or III and are probably characterized by defective melanosomal transfer. This publication describes the clinical and genetic characteristics of the three selected genodermatoses. Although rare and phenotypically diverse, the study of these diseases has yielded significant knowledge on the genes that regulate the migration of melanocytes and the mechanisms that control skin, hair and eye pigmentation.

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