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]
This clinical trial was first described by Bruce J Bart in 1966, who reported a large family with 26 affected members.
Clinical
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
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]
^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.
External links
August 21, 2023
bart, syndrome, confused, with, barth, syndrome, bart, pumphrey, syndrome, also, known, aplasia, cutis, congenita, type, rare, genetic, disorder, characterized, association, congenital, localized, absence, skin, mucocutaneous, blistering, absent, dystrophic, n. Not to be confused with Barth syndrome or Bart Pumphrey syndrome 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 Bart syndromeSpecialtyDermatology Contents 1 History 2 Clinical 3 Genetics 4 See also 5 References 6 External linksHistory EditThis clinical trial was first described by Bruce J Bart in 1966 who reported a large family with 26 affected members Clinical Edit1 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 EditThe 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 EditList of cutaneous conditions Bart Pumphrey syndromeReferences 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 External links Edit Retrieved from https en wikipedia org w index php title Bart syndrome amp oldid 1160059851, wikipedia, wiki, book, books, library,
