Stiff skin syndrome

Stiff skin syndrome, also known as congenital fascial dystrophy, is a skin condition marked by rock-hard thickening of the skin and the tissue beneath it, limited movement of the joints and mild excess hair growth, appearing in infancy or early childhood. Patients show no immune abnormalities or overactive blood vessels. The condition is associated with mutations in the FBN1 gene, which encodes fibrillin 1, and other conditions linked to the same gene include Marfan syndrome, acromicric dysplasia, Weill-Marchesani syndrome and Shprintzen-Goldberg syndrome. Little is known about its cause or treatment, and it has been reported only about forty-one times, so further investigation is needed. This entry records what is known and is not medical advice.