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Several hereditary pigmentary diseases: advances in clinical aspects and molecular genetics

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Author:
No author available
Journal Title:
International Journal of Dermatology and Venereology
Issue:
1
DOI:
10.3760/cma.j.issn.1673-4173.2014.01.015
Key Word:
皮肤疾病;色素沉着异常;分子生物学;Skin diseases;Pigmentation disorders;Molecular biology

Abstract: In recent years,some great progresses have been made in the clinical aspects and molecular genetics of several hereditary pigmentary diseases predominandy inherited in an autosomal dominant mode,including reticular pigmented anomaly of the flexures (DDD),dyschromatosis universalis hereditaria (DUH),familial progressive hypermelanosis (FPH),familial progressive hyperpigmentation and hypopigmentation (FPHH).It has been revealed that DDD is caused by the loss-of-function mutation of KRT5 gene (12q13.13),autosomal dominant DUH by the mutations in SASH1 (6q24.2-q25.2) or ABCB6 (2q33.3-q36.1) gene,while autosomal recessive DUH maps to chromosome 12q21-q23.The mutations in KITLG gene (12q21.12-q22) or some causative genes on chromosome 19p13.1-pter may lead to FPH,and FPHH is associated with KITLG gene mutations.These gene mutations result in abnormal skin pigmentation mainly via affecting melanin degradation,melanocyte migration,melanin synthesis or melanoblast proliferation.

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