Wrinkly skin syndrome

Wrinkly skin syndrome, abbreviated WSS, is a rare genetic condition characterized by sagging, wrinkled skin, low skin elasticity and delayed closure of the fontanelle, the soft spot of the infant skull, along with a range of other symptoms. It follows an autosomal recessive inheritance pattern with mutations in the ATP6V0A2 gene, which lead to abnormal glycosylation events. There were only about 30 known cases as of 2010. Because it is so rare and overlaps in symptoms with other skin conditions, an accurate diagnosis is difficult and requires specialized dermatological testing. Treatment options are limited and long-term prognosis varies from patient to patient. Some skin symptoms recede with age, while progressive neurological involvement causes seizures and mental deterioration later in life for some patients.