|Demarcated lesion on lower limbs|
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. 
Signs and symptoms
The clinical presentation of this condition is as follows:
- Absence of skin at birth, involving the lower legs and feet, healing within a few months, leaving scarring and fragile skin.
- Widespread blistering of the skin and mucous membranes.
- Variable absence and dystrophy of nails.
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.
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).
This clinical trial was first described by Bruce J Bart in 1966, who reported a large family with 26 affected members.
- ↑ Bart, Bruce (1966). "Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new syndrome". Archives of Dermatology. 93: 296–304.
- ↑ Frieden, IJ (1986). "Aplasia cutis congenita: A clinical review and proposal for classification". Journal of the American Academy of Dermatology. 14: 646–660.
- ↑ 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.