A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes

被引：102

作者：

Dessinioti, Clio ^{[1
]}

Stratigos, Alexander J. ^{[1
]}

Rigopoulos, Dimitris ^{[1
]}

Katsambas, Andreas D. ^{[1
]}

机构：

[1] Univ Athens, Dept Dermatol, A Sygros Hosp, Athens 16121, Greece

来源：

EXPERIMENTAL DERMATOLOGY | 2009年 / 18卷 / 09期

关键词：

biology; genes; hereditary skin diseases; hypomelanoses; melanin; melanocyte; molecular defects; HERMANSKY-PUDLAK-SYNDROME; YELLOW OCULOCUTANEOUS ALBINISM; HUMAN PIEBALDISM; PIGMENTARY DISORDERS; MISSENSE MUTATION; MOLECULAR-BASIS; HUMAN HOMOLOG; HUMAN SKIN; RECEPTOR; DISEASE;

D O I：

10.1111/j.1600-0625.2009.00896.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Inherited diseases of pigmentation were among the first traits studied in humans because of their easy recognition. The discovery of genes that regulate melanocytic development and function and the identification of disease-causative mutations have greatly improved our understanding of the molecular basis of pigmentary genodermatoses and their underlying pathogenetic mechanisms. Pigmentation mutants can account for hypo-/amelanosis, with or without altered melanocyte number, resulting in different phenotypes, such as Waardenburg syndrome, piebaldism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, oculocutaneous albinism and Griscelli syndrome. In this review, we summarize the basic concepts of melanocyte biology and discuss how molecular defects in melanocyte development and function can result in the development of hypopigmentary hereditary skin diseases.

引用

页码：741 / 749

页数：9

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