Recently, in a family with generalized ichthyotic Peeling skin syndrome (PSS) , a homozygous nonsense mutation in FLG2 was found, thereby broadening the PSS genetic spectrum.
The two siblings were presented in Journal of Investigative Dermatology. They are with generalized peeling skin and ichthyosis with the same homozygous FLG2 nonsense mutation and provide clues to the pathogenesis of the epidermal separation and abnormal cornification.
Peeling skin syndrome (PSS) is a group of recessive skin fragility genodermatoses with superficial peeling of the skin as the characteristic clinical feature that may be accompanied by ichthyosis and/or inflammation.
The index patient is an 11-year-old girl from consanguineous Moroccan parents. At birth, she was erythrodermic, and afterward, dry skin was present with superficial peeling of the skin upon minor trauma, leaving a red denuded area. The lesions healed with hyperpigmentation without leaving scars.
The condition markedly improved during childhood. One older brother was similarly affected and also had remarkable improvement with age.