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Acral peeling skin syndrome
A rare peeling skin syndrome characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.
ORPHA:263534Classification level: Disorder
Acral PSS is rare, with approximately 40 cases described in the literature to date.
The disease manifests shortly after birth or in early childhood with superficial peeling on the palmar, plantar and dorsal surfaces of the hands and feet, that leaves residual painless erythema. Manual skin removal is also possible. Seasonal variations are generally observed. Heat, humidity, exposure to water and friction or minor trauma can induce exfoliation. The lesions are not painful and heal without scarring.
Some cases result from mutations in the TGM5 gene (15q15), encoding transglutaminase-5. TGM5 is widely expressed in the epidermis and is involved in protein cross-linking. It is thought to be required for structural integrity of the outermost epidermal layers. To date, no other causal genes have been identified but acral PSS could be a genetically heterogeneous disease.
Clinical presentation is highly suggestive of the disease. Histological examination of skin lesion biopsies reveals tissue separation at the stratum granulosum-stratum corneum junction. Molecular analysis, if performed, may reveal a TGM5 mutation.
Differential diagnosis includes epidermolysis bullosa simplex superficialis, keratolytic winter erythema, exfoliative ichthyosis (see these terms), keratolysis exfoliativa, fungal infection (dermatophytes), psoriasis and dyshidrosis.
The disease is not severe enough to justify prenatal screening.
Transmission is autosomal recessive. The risk for a healthy carrier parent to have an affected child is of 25%.
Management and treatment
There is no effective treatment. Emollients are often used to reduce skin peeling. Patients must avoid immersion in water and are recommended to use absorbing powders or aluminum antiperspirants.
Life expectancy is normal. No significant impairment in quality of life is reported.