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Am J Perinatol 2001; 18(1): 039-048
DOI: 10.1055/s-2001-12938
Copyright © 2001 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA. Tel.: +1(212) 584-4662

Restrictive Dermopathy: Case Report, Subject Review with Kaplan-Meier Analysis, and Differential Diagnosis of the Lethal Congenital Contractural Syndromes

Consolato Sergi1 , Johannes Poeschl2 , Matthias Graf1 , Otwin Linderkamp2
  • 1Institute of Pathology, Children's Hospital, University of Heidelberg, Heidelberg, Germany and
  • 2Department of Neonatology, Children's Hospital, University of Heidelberg, Heidelberg, Germany
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Publication History

Publication Date:
31 December 2001 (online)

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ABSTRACT

We report on a 34-week-old infant with restrictive dermopathy (RD), a rare lethal genodermatosis, characterized by an abnormal skin growth and differentiation with thin, tightly adherent skin that causes a dysmorphic face, generalized flexion joint contractures, and respiratory insufficiency. Kaplan-Meier analysis of 32 previously well-described infants affected with RD showed a median survival of 132 hours. Lethal congenital contractural syndromes, including Pena-Shokeir phenotype, cerebro-oculo facio-skeletal syndrome, and lethal multiple pterygium syndrome, should be considered first in the differential diagnosis. Other lethal contractural syndromes are discussed.

KEYWORD

Restrictive dermopathy - differential diagnosis - congenital disorder

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