Restrictive dermopathy: Report of one case and the metabolic and post-mortem findings

Ming Chou Chiang*, Shiu Feng Huang, Chuen Hsueh, Ming Wei Lai, Jia Woei Hou

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

4 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)492-494
Number of pages3
JournalTurkish Journal of Pediatrics
Volume50
Issue number5
StatePublished - 2008
Externally publishedYes

Keywords

  • Aarthrogryposis
  • Metabolic diseases
  • Restrictive dermopathy
  • Thymus hypoplasia

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