Bart syndrome
| Bart syndrome | |
|---|---|
| Specialty | 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]
History[edit]
This clinical trial was first described by Bruce J Bart in 1966, who reported a large family with 26 affected members.
Clinical[edit]
1. Absence of skin at birth, involving the lower legs and feet, healing within a few months, leaving scarring and fragile skin. 2. Widespread blistering of the skin and mucous membranes. 3. Variable absence and dystrophy of nails.
Genetics[edit]
The syndrome is inherited by autosomal dominant transmission with complete penetrance but variable expression. This means that children of an affected parent that carries the gene have a 50% chance of developing the disorder, although the extent to which they are affected is variable.[citation needed]
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[edit]
References[edit]
- ^ Bart, Bruce (1966). "Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome". Archives of Dermatology. 93 (3): 296–304. doi:10.1001/archderm.1966.01600210032005. PMID 5910871.
- ^ Frieden, IJ (1986). "Aplasia cutis congenita: A clinical review and proposal for classification". Journal of the American Academy of Dermatology. 14 (4): 646–660. doi:10.1016/S0190-9622(86)70082-0. PMID 3514708.
- ^ 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. doi:10.1111/1523-1747.ep12349293. PMID 8752681.