Restrictive dermopathy
Restrictive dermopathy
Definition
A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.
Also known as lethal hyperkeratosis-contracture syndrome, lethal restrictive dermopathy, lethal tight skin-contracture syndrome — per MONDO