lethal tight skin contracture syndrome

(redirected from restrictive dermopathy)

lethal tight skin contracture syndrome

A rare autosomal recessive disorder (OMIM:275210) characterised by intrauterine growth retardation; tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis; typical facies (small mouth, small pinched nose and micrognathia); sparse/absent eyelashes and eyebrows; mineralisation defects of the skull; thin, dysplastic clavicles; pulmonary hypoplasia; multiple joint contractures; and early death, typically within the first week of life.

Molecular pathology
Caused by defects of ZMPSTE24, which encodes a zinc metalloproteinase involved in the post-translational proteolytic cleavage of farnesylated prelamin A to form mature lamin A.
References in periodicals archive ?
Restrictive dermopathy and stiff skin syndrome were considered for differential diagnosis.
Restrictive dermopathy--Restylane-L has also been shown to be effective for lagophthalmos, secondary to a shortened anterior lamellar and periorbital hollowing in a patient with restrictive dermopathy. (10) Small aliquots of filler were injected using a 21-gauge needle into the pre-periosteal plane in the superior sulcus.
Patients with progeroid syndromes such as mandibuloacral dysplasia, type B (MADB) and restrictive dermopathy (RD) harbor mutations in zinc metalloproteinase (ZMPSTE24), an enzyme essential for posttranslational proteolysis of prelamin A to form mature lamin A.