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Wikipedia

Bart 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.

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).

See also List of cutaneous conditions Bart-Pumphrey syndrome

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Tags

  • Collagen disease
  • Diseases named after discoverers
  • Genodermatoses
  • Syndromes affecting the skin