Extensive Congenital Absence of Epidermis

Restrictive dermopathy is a recently described lethal congenital disorder of the skin with an autosomal recessive mode of inheritance. The rigidity of the skin impairs fetal movements in utero and causes arthrogryposis, as well as highly characteristic facial features and pulmonary hypoplasia. We report two cases of restrictive dermopathy in prematurely born infants, describe the typical pathological findings and discuss this disorder in the context of the fetal akinesia/hypokinesia deformation sequence.

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Extensive Congenital Absence of Epidermis

Abstract: A case of a newborn child with extensive congenital absence of epidermis is presented. Following our review of the literature, this appears to be the most extensive case described. Some possible etiological causes of this rare disease are briefly discussed.

Cited by 5 publications

References 6 publications

Congenital Erosive and Vesicular Dermatosis Healing With Reticulated Supple Scarring

Congenital Erosive and Vesicular Dermatosis Healing With Reticulated Supple Scarring

Clinical aspects of congenital skin defects

Restrictive dermopathy: A lethal congenital skin disorder

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