Restrictive dermopathy

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.

Adrenal calcification

Calcification within the adrenal glands.


Total: 1

                      


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PMID (PMCID)
29894032
FEMALE Infant, Newborn
Restrictive Dermopathy: A Rare Disease with Unusual Radiographic Findings.
Chohan O, Daugherty RJ, Bartoshesky L.
Del Med J. 2016;88(10):308-310.
The patient is a unique case presenting with presumed Restrictive Dermopathy (RD) and intracranial and adrenal calcifications, an association not previously described in the literature.