The Turkish Journal of Pediatrics 2008 , Vol 50 , Num 5
Restrictive dermopathy: report of one case and the metabolic and post-mortem findings
1Departments of Pediatrics, Chang Gung Children's Hospital, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan
2Departments of Pathology, Chang Gung Children's Hospital, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan
Chiang MC, Huang SF, Hsueh C, Lai MW, Hou JW. Restrictive dermopathy: report of one case and the metabolic and post-mortem findings. Turk J Pediatr 2008; 50: 492-494.

Restrictive dermopathy is a rare and lethal autosomal recessive genodermatosis characterized by tight skin, typical dysmorphic face, generalized arthrogryposis and pulmonary hypoplasia. Infants with restrictive dermopathy have similar findings in skin biopsy, but other abnormalities are unremarkable. We report a male preterm infant with restrictive dermopathy. The post-mortem examination revealed hypoplasia of the thymus, and the metabolic study of the urine and blood disclosed generalized organic aciduria and low free carnitine level. These data imply that restrictive dermopathy is associated with certain degrees of metabolic disturbance. With increasing reports of restrictive dermopathy, the affected infants can be diagnosed earlier and accurately. Keywords : arthrogryposis, metabolic diseases, restrictive dermopathy, thymus hypoplasia.

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