A biopsy specimen from the thigh showed a disorganized epidermis with flattened rete ridges and overlying parakeratosis. A thin dermis was overlying a subcutis with thickened septae between the fat lobules. The dermal collagen was compact. There were scattered normal adnexal structures, including immature hair follicles. Elastic staining demonstrated absent elastic fibers in the papillary and reticular dermis. Elastic tissue was present in fat septae.
Restrictive dermopathy is a rare, fatal, presumably autosomal recessive condition that was first described as a distinct entity in 1986.1 Reports in multiple siblings of both sexes and from healthy parents with a history of consanguineous marriage all support autosomal recessive inheritance. Death usually results from pulmonary hypoplasia.1-3
Tight Skin and Dysmorphic Features in a Newborn. Arch Dermatol. 2002;138(6):831–836. doi:10.1001/archderm.138.6.831
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