RESTRICTIVE DERMATOPATHY: A RARE LETHAL HEREDITARY ABNORMALITY
E. A Serdyukova , A. Yu Rodin , M. E Franchuk , O. N Saprunova
Russian Journal of Skin and Venereal Diseases ›› 2013, Vol. 16 ›› Issue (5) : 37 -39.
RESTRICTIVE DERMATOPATHY: A RARE LETHAL HEREDITARY ABNORMALITY
A rare case is presented: a lethal hereditary abnormality with autosomal recessive inheritance of restrictive dermatopathy, diagnosed in a preterm (week 29—30) girl, weighing 1140 g, with body length of 39 cm. The pathological complex included developmental abnormalities of the skin and its appendages, bone system, and polyorgan failure. The lethal outcome ensued on day 57 of life from bronchopulmonary dysplasia, aggravated by bilateral congenital polysegmented pneumonia in the presence of multiple lung atelectases and polyorgan (cardiovascular, cerebral) failure. Relevant publications (17 sources) are discussed and illustrations presented.
restrictive dermatopathy / genodermatoses / mutations / skin dysplasia
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