Интересные и познавательные клинические случаи из реальных практик! Медицинские кейсы публикуются в форме викторин, в которых можно проверить свои знания. На каждый кейс дается детальный разбор правильного ответа! Авторы канала - врачи :)
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.
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).
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