PEDIATRICS Vol. 47 No. 2 February 1971, pp. 360-369
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STIFF SKIN SYNDROME

Nancy B. Esterly M.D.1 and Victor A. McKusick M.D.1

1 Department of Dermatology, University of Illinois College of Medicine, Chicago, and Division of Medical Genetics, Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore

Four patients are described with localized areas of stony-hard skin, mild hirsutism, and limitation of joint mobility. In three of these individuals the disorder was congenital and, in the fourth, it was first noticed in early childhood. No other abnormalities have been observed on repeated physical examination. Biopsies of affected skin show abnormal amounts of hyaluronidase-digestible acid mucopolysaccharide in the dermis. Fibroblast cultures from one individual demonstrated marked increase in intracellular metachromatic material. None of the patients had increased excretion of mucopolysaccharide in the urine.

The occurrence of this disorder in a mother and two children suggests an autosomal dominant mode of inheritance. It is postulated that these patients manifest a connective tissue disorder possibly resulting from an abnormality of mucopolysaccharide metabolism.

Submitted on July 2, 1970
Accepted on August 4, 1970




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