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

Am J Perinatol 2001; 18(1): 039-048
DOI: 10.1055/s-2001-12938

1Institute of Pathology, Children's Hospital, University of Heidelberg, Heidelberg, Germany and
2Department of Neonatology, Children's Hospital, University of Heidelberg, Heidelberg, Germany

Publication History

Publication Date:
31 December 2001 (online)

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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