Bart syndrome - Misplaced Pages

(Redirected from Epidermolysis bullosa dystrophica, Bart type) Not to be confused with Barth syndrome or Bart-Pumphrey syndrome. Medical condition

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.

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

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

Classification	D OMIM: 132000 MeSH: C562638

Diseases of collagen, laminin and other scleroproteins

Collagen disease

COL1:	Osteogenesis imperfecta (types I–IV) Ehlers–Danlos syndrome (types 1, 2, & 7)
COL2:	Hypochondrogenesis Achondrogenesis (type 2) Stickler syndrome Marshall syndrome Spondyloepiphyseal dysplasia congenita Spondyloepimetaphyseal dysplasia, (Strudwick type) Kniest dysplasia (Type II collagenopathy)
COL3:	Ehlers–Danlos syndrome (types 3 & 4) Sack–Barabas syndrome
COL4:	Alport syndrome
COL5:	Ehlers–Danlos syndrome (types 1 & 2)
COL6:	Bethlem myopathy (type 1) Ullrich congenital muscular dystrophy (type 1)
COL7:	Epidermolysis bullosa dystrophica Recessive dystrophic epidermolysis bullosa Bart syndrome Transient bullous dermolysis of the newborn
COL8:	Fuchs' dystrophy (type 1)
COL9:	Multiple epiphyseal dysplasia (types 2, 3, & 6)
COL10:	Schmid metaphyseal chondrodysplasia
COL11:	Weissenbacher–Zweymüller syndrome Otospondylomegaepiphyseal dysplasia (Type XI collagenopathy)
COL12:	Bethlem myopathy (type 2) Ullrich congenital muscular dystrophy (type 2)
COL17:	Bullous pemphigoid
COL18:	Knobloch syndrome

Laminin

Other

see also fibrous proteins

Categories:

Causes

See also

References

External links