Restrictive dermopathy: report of a case and review of the literature

Background: Restrictive dermopathy is a rare autosomal recessive skin disor der that is fatal in the neonatal period. Clinical and pathologic findings are distinctive and allow for a specific diagnosis in most cases. Methods: We present a case of an affected infant and a review of the previo usly reported cases in the literature. Results: The infant had thick shiny skin with reduced compliance and multip le spontaneous linear splits. Additional findings included an abnormal faci es with a distinctive small, round and open mouth, low set ears, small nose , widely spaced sutures, flexion contractures of the extremities, and poorl y expanded lungs. The infant expired 65 h after birth. Histologic findings of the skin at: autopsy included a relatively unremarkable epidermis, a fla t dermal-epidermal junction (absent rete ridges), an overall thinned dermis with hypoplastic appendage structures, a dense fibrotic reticular dermis w ith collagen parallel to the epidermis, a sharp subcutaneous margin, and an abnormally thick layer of subcutaneous adipose tissue. Electron microscopi c findings included dense dermal patches of collagen and fibroblasts with a bundant endoplasmic reticulum and unusually small tonofilaments. Review of previously reported cases reveals strikingly consistent findings. Conclusions: This rare condition illustrates that abnormal cutaneous develo pment may produce fetal hypokinesia, leading to profound effects on intraut erine growth and development. The autosomal recessive pattern of inheritanc e and morphologic changes of the skin and skeletal system in this disorder suggest that a structural protein or enzyme defect, perhaps of collagen met abolism, may underlie the pathogenesis.