Wrinkly skin syndrome
| Wrinkly skin syndrome | |
|---|---|
| Specialty | Dermatology |
| Symptoms | sagging, wrinkled skin; low skin elasticity, delayed fontanelle (soft spot) closure |
| Causes | mutations in the ATP6VOA2 gene (autosomal recessive) |
| Diagnostic method | dermatological assessment, genetic screening, skin biopsies, x-rays, brain MRI scans |
| Management | physical therapy, developmental assessments, bone density scans |
| Frequency | 30 known cases |
Wrinkly skin syndrome (WSS) is a rare genetic condition characterized by sagging, wrinkled skin, low skin elasticity, and delayed fontanelle (soft spot) closure, along with a range of other symptoms. The disorder exhibits an autosomal recessive inheritance pattern with mutations in the ATP6V0A2 gene, leading to abnormal glycosylation events. There are only about 30 known cases of WSS as of 2010. Given its rarity and symptom overlap with other dermatological conditions, reaching an accurate diagnosis is difficult and requires specialized dermatological testing. Limited treatment options are available but long-term prognosis is variable from patient to patient, based on individual case studies. Some skin symptoms recede with increasing age, while progressive neurological advancement of the disorder causes seizures and mental deterioration later in life for some patients.