Bart syndrome explained

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.^{[1] [2]}

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).^[3]

See also

• List of cutaneous conditions
• Bart-Pumphrey syndrome

Notes and References

1. Bart . Bruce . Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome. . Archives of Dermatology . 1966 . 93 . 3 . 296–304. 10.1001/archderm.1966.01600210032005 . 5910871 .
2. Frieden . IJ . Aplasia cutis congenita: A clinical review and proposal for classification. . Journal of the American Academy of Dermatology . 1986 . 14 . 4 . 646–660. 10.1016/S0190-9622(86)70082-0 . 3514708 .
3. Christiano AM, Bart BJ, ((Epstein EH Jr)), Uitto J . 1996 . Genetic basis of Bart's syndrome: a glycine substitution mutation in the type VII collagen gene . Journal of Investigative Dermatology . 106 . 6 . 1340–2 . 8752681. 10.1111/1523-1747.ep12349293 . free .