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Report of Two Affected Siblings and a Review of the Literature

Kathleen M. Welsh, MD; Bruce R. Smoller, MD; Karen A. Holbrook, PhD; Kathreen Johnston, MD

Arch Dermatol. 1992;128(2):228-231.

Abstract
• Background.—
Restrictive dermopathy is a lethal genetic disorder consisting of abnormally tight skin, generalized joint contractures, distinctive facies, and pulmonary hypoplasia. Autosomal recessive inheritance has been suggested based on multiply affected siblings and some reports of parental consanguinity. This article describes two siblings with the restrictive dermopathy syndrome and reviews previously reported cases.

Observations.—
Eight other cases have been reported in the literature as restrictive dermopathy. These cases have shared striking similarities in their clinical histories and phenotypes. The skin in these infants has been described as rigid and tense, with skin biopsy specimens showing a thick epidermis, thin dermis, abnormally arranged collagen bundles, and poorly developed appendages. Other prominent features are flexion contractures and craniofacial and pulmonary abnormalities. The genetic and/or developmental defects leading to the restrictive dermopathy syndrome are presently not known.

Conclusions.—
The restrictive dermopathy syndrome is distinct and is easily differentiated from other congenital diseases such as the icthyoses and also from the clinical conditions of sclerema neonatorum and subcutaneous fat necrosis of the newborn. Recognition of this syndrome is important for determining the prognosis of affected infants and for recommending genetic counseling to affected families.

(Arch Dermatol. 1992;128:228-231)

Author Affiliations
From the Departments of Dermatology (Drs Welsh and Smoller), Pathology (Dr Smoller), and Pediatrics (Dr Johnston), Stanford (Calif) University; and the Departments of Biological Structure and Medicine (Dermatology) (Dr Holbrook), University of Washington, School of Medicine, Seattle.

Footnotes
Accepted for publication August 20, 1991.

Presented in part at the November 3, 1990, meeting of the San Francisco Dermatological Society, Stanford, Calif, November 22, 1991.

Reprints not available.

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