Restrictive dermopathy. Report of two affected siblings and a review of the literature.

Arch Dermatol 1992 Feb;128(2):228-31

Department of Dermatology, Stanford University, Calif.

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.

Download full-text PDF

Source

Still can't find the full text of the article?

We can help you send a request to the authors directly.
February 1992
5 Reads

Publication Analysis

Top Keywords

restrictive dermopathy
24
dermopathy syndrome
12
restrictive
6
dermopathy
5
phenotypes skin
4
histories phenotypes
4
icthyoses clinical
4
similarities clinical
4
clinical histories
4
skin infants
4
diseases icthyoses
4
tense skin
4
skin biopsy
4
rigid tense
4
described rigid
4
infants described
4
striking similarities
4
congenital diseases
4
shared striking
4
reported casesobservations
4

Similar Publications