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Report of 12 Cases

J. H. Sillevis Smitt, MD, PhD; C. J. van Asperen, MD; C. M. Niessen, PhD; F. A. Beemer, MD, PhD; A. J. van Essen, MD; R. F. H. J. Hulsmans, MD; A. P. Oranje, MD, PhD; P. M. Steijlen, MD, PhD; E. Wesby-van Swaay, MD; P. Tamminga, MD; E. J. Breslau-Siderius, MD; and the Dutch Task Force on Genodermatology

Arch Dermatol. 1998;134:577-579.

Background  This study describes 12 cases of restrictive dermopathy seen during a period of 8 years by the Dutch Task Force on Genodermatology. We present these unique consecutive cases to provide more insight into the clinical picture and pathogenesis of the disease.

Observations  Clinical features in more than 85% of these 12 children were prematurity, fixed facial expression, micrognathia, mouth in o position, rigid and tense skin with erosions and denudations, and multiple joint contractures. Ten patients underwent histopathologic skin biopsy. The biopsy results showed flattening of rete ridges in all 10 patients, a thin dermis with collagen aligned parallel to the epidermis in 9 patients, and poorly developed dermal appendages in 9 patients. Additional findings in individual patients included blepharophimosis, inguinal skin tear, skin tear in the frontal neck area that developed during delivery, absent eyelashes, a wide ascendent aorta, and dextrocardia. Fibroblast cultures taken from 5 patients did not show abnormal ₂₁ and ₁₁ integrin expressions.

Conclusions  The alleged rarity of restrictive dermopathy may be partially caused by medical unfamiliarity with this entity, despite its characteristic clinical and histopathologic picture. The pathogenesis of the disease still needs to be elucidated.

From the Departments of Dermatovenereology (Dr Sillevis Smitt) Clinical Genetics (Dr van Asperen) and Neonatal Intensive Care (Dr Tamminga), Academic Medical Centre, University of Amsterdam; the Department of Cell Biology, Dutch Cancer Institute (Dr Niessen), Amsterdam; the Clinical Genetics Center and Wilhelmina Children's Hospital, Utrecht (Drs Breslau-Siderius and Beemer); the Department of Medical Genetics, University of Groningen, Groningen (Dr van Essen); the Department of Dermatology, Academisch Ziekenhuis Maastricht, Maastricht (Dr Hulsmans); the Department of Dermatovenereology, University Hospital Rotterdam (Dr Oranje), and the Department of Clinical Genetics, Erasmus Universiteit, (Dr Wesby-van Swaay), Rotterdam; and the Department of Dermatology, Academisch Ziekenhuis Nijmegen, Nijmegen (Dr Steijlen), the Netherlands. Dr van Asperen is now with the Department of Clinical Genetics, Academic Hospital Leiden, Leiden, Dr Niessen is with the Cellular Biochemistry and Biophysics Program, Memorial Sloan-Kettering Cancer Center, New York, NY, and Dr Hulsmans is with the Huisartscentrum Annadal, Maastricht.

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