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Bart syndrome

Field	Value
name	Bart syndrome
field	dermatology

Bart syndrome, also known as aplasia cutis congenita type VI, is a rare genetic disorder characterized by the association of congenital localized absence of skin, mucocutaneous blistering and absent and dystrophic nails.

Causes

Blistering in Bart syndrome represents a form of epidermolysis bullosa caused by ultrastructural abnormalities in the anchoring fibrils. Genetic linkage of the inheritance of the disease points to the region of chromosome 3 near the collagen, type VII, alpha 1 gene (COL7A1).

References

(1966). "Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome.". Archives of Dermatology.
(1986). "Aplasia cutis congenita: A clinical review and proposal for classification.". Journal of the American Academy of Dermatology.

Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

genodermatoses collagen-disease syndromes-affecting-the-skin diseases-named-after-discoverers

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