![]() Rarely, formation of blisters has been reported.ĬAST: This gene encodes calpastatin, an endogenous protease inhibitor of calpain, which plays a role in various cell functions such as cell proliferation, differentiation, mobility, cell cycle progression, and apoptosis. The generalized dryness and peeling of the skin typically improves with age but can be triggered or aggravated by heat exposure, mechanical trauma to the skin and other external factors. Complete or almost complete filaggrin 2 deficiency due to loss-of-function variants in FLG2 results in decreased expression of CDSN, and generalized, non-inflammatory PSS. These genes encode either structural proteins of corneocytes, the cells of the outermost skin layer ( CDSN DSG1 FLG2 DSC3 JUP) or inhibitors of epidermal proteases ( SPINK5, CSTA CAST SERINB8), which are crucial regulators for the degradation of corneodesmosomes and shedding of corneocytes.įLG2: The filaggrin 2 gene ( FLG2) is co-expressed with corneodesmosin ( CDSN, see below) in the outermost layers of the skin, where it is cleaved into multiple small repeat units and is crucial for maintaining cell-cell adhesion. To date, genetic changes in several distinct genes have been reported to cause PSS. Due to the variable clinical presentations of PSS, its often mild features and gradual improvement with age, PSS may be underdiagnosed and underreported. In some patients, these disorders may be life-threatening, especially during the newborn period. The generalized inflammatory types, such as SAM syndrome or Netherton syndrome may be associated with generalized inflammation of the skin (erythroderma) or localized thickened, red plaques (erythrokeratoderma), immunodysfunction with elevated IgE levels, allergies, and susceptibility to infections, failure to thrive or metabolic wasting. In the localized types, individuals develop blisters and erosions on hands and feet at birth or during infancy, which is reminiscent of another blistering skin disorder, epidermolysis bullosa simplex. Skin peeling is often exacerbated by mechanical irritation of the skin, heat, sweat or water exposure or other external factors. Other findings associated with this disorder may include blistering and skin fragility, itching, short stature, and/or newly formed hairs that can be plucked out more easily than normal. Often, affected individuals and/or their caregivers can remove sheets of skin manually, comparable to skin peeling after a severe sunburn. Skin peeling occurs spontaneous, is painless, and may persist lifelong with gradual improvements. Most forms of PSS manifest at birth or during infancy with shedding or peeling of the outermost layer of the skin (horny layer, aka stratum corneum). Peeling skin syndrome belongs to the groups of congenital ichthyosis and skin fragility disorders with autosomal recessive inheritance. PSS may be caused by disease-causing variants in multiple genes encoding proteins with crucial functions for cell-cell adhesion: structural proteins forming cell-cell adhesion points (desmosomes, corneodesmosomes) and inhibitors of epidermal proteases that control skin shedding. Generalized PSS can be distinguished into an inflammatory type which is associated with erythema, involves other organ systems and is more severe, and a milder, non-inflammatory type. Based on the extent of skin involvement, PSS may involve the skin of the entire body (generalized form), or is limited to the extremities, mostly hands and feet (localized form). Symptoms may be present from birth or appear in early childhood and are often exacerbated by friction, heat or other external factors. Other findings may include blistering and/or reddening of the skin (erythema) and itching (pruritus). PSS is characterized by painless, continual, spontaneous skin peeling (exfoliation) due to a separation of the outermost layer of the epidermis (stratum corneum) from the underlying layers. Peeling skin syndrome (PSS) is a group of rare inherited skin disorders in which the normal gradual process of invisible shedding of the outermost skin layers is hastened and/or aggravated. ![]() Stay Informed With NORD’s Email Newsletter.Find a Rare Disease Patient Organization. ![]() ![]() Find Clinical Trials & Research Studies. ![]() Launching Registries & Natural History Studies.A Podcast For The Rare Disease Community. ![]()
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