The stiff skin syndrome: new genetic and biochemical investigations

H. Singer, D. Valle, J. Rogers, G. Thomas

Research output: Contribution to journalArticle

Abstract

The stiff skin syndrome (SS) is a presumed autosomal dominantly inherited disorder characterized by thick, hard skin, limitation of joint mobility, and firm muscles. These clinical features plus histochemical studies of the affected skin and cultured fibroblasts of 3 previously reported cases have suggested an abnormality of glycosaminoglycan (GAG) metabolism in SS. The authors report a new family with affected members in 4 successive generations plus an affected offspring of a previous reported case. Histochemical and biochemical studies on these patients failed to confirm an abnormality of GAG metabolism. Demonstration of affected members in successive generations in 2 families proves that the SS syndrome is inherited as an autosomal dominant. No evidence for a specific lysomal enzyme defect has been found. The authors speculate that a defect of collagen or proteoglycans may be the biochemical abnormality in this syndrome.

Original languageEnglish (US)
Pages (from-to)254-255
Number of pages2
JournalBirth Defects: Original Article Series
Volume13
Issue number3 B
StatePublished - Jan 1 1977

ASJC Scopus subject areas

  • Developmental Biology
  • Genetics(clinical)

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