Pigment Genodermatoses Affecting Melanocyte Development and Migration from the Neural Crest: Piebaldism, Waardenburg Syndrome and Cross- McKusick-Breen Syndrome
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چکیده
منابع مشابه
Pigment Genodermatoses Affecting Melanocyte Development and Migration from the Neural Crest: Piebaldism, Waardenburg Syndrome and Cross-McKusick-Breen Syndrome
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-McKusi...
متن کاملGenetics of pigmentary disorders.
The genetic and molecular bases of various types of congenital pigmentary disorders have been classified in the past 10 years, as follows: (1) disorders of melanoblast migration in the embryo from the neural crest to the skin: piebaldism; Waardenburg syndrome 1-4 (WS1-WS4); dyschromatosis symmetrica hereditaria. (2) Disorders of melanosome formation in the melanocyte: Hermansky-Pudlak syndrome ...
متن کاملWaardenburg syndrome
Waardenburg syndrome was first reported by van der Hoeve in 1916. In 1951, Waardenburg defined 6 main features: (1) dystopia canthorum, (2) prominent broad nasal root, (3) synophrys, (4) white forelock, (5) heterochromia iridis, and (6) congenital deaf-mutism. Four types of Waardenburg syndrome have now been delineated on the basis of clinical and genetic criteria. The molecular defective gene ...
متن کاملSyndrome of the month Waardenburg syndrome
Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly inherited examples with patchy depigmentation are usually labelled Waardenburg syndrome (WS). Type I WS, characterised by dystopia canthorum, is caused by loss offunction mutations in the PAX3 gene. Type III WS (KleinWaardenburg syndrome, with...
متن کاملMckusick-Kaufman Syndrome: Diagnosis and Management
A female newborn, a product of consanguineous marriage born by caesarian section delivery with a birth weight of 3.75 kg, was admitted to our hospital with abdominal distension. Antenatal ultrasound showed congenital heart disease and a pelvic mass. On examination, she had lower abdominal mass emanating from the pelvis. There was polydactly and syndactly of the right hand and polydactly of the ...
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ژورنال
عنوان ژورنال: Journal of Pigmentary Disorders
سال: 2015
ISSN: 2376-0427
DOI: 10.4172/2376-0427.1000168