<unk>  <unk>  is a rare genetic condition characterized by sagging,<unk> d skin, low skin elasticity, and delayed fontanel (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<unk>  as of 2010. Given its rarity and symptom overlap to 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, on the basis of 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.
Wrinkly skin syndrome
Peeling skin syndrome
Gradenigo's syndrome
Swimmer's itch
Heat urticaria
Pressure urticaria
Intertrigo
Sunburn