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.

Epidemiology

Acral PSS is rare, with approximately 40 cases described in the literature to date.

Clinical description

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.

Etiology

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.

Diagnostic methods

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

Differential diagnosis includes epidermolysis bullosa simplex superficialis, keratolytic winter erythema, exfoliative ichthyosis (see these terms), keratolysis exfoliativa, fungal infection (dermatophytes), psoriasis and dyshidrosis.

Antenatal diagnosis

The disease is not severe enough to justify prenatal screening.

Genetic counseling

Transmission is autosomal recessive. Genetic counseling should be offered to at-risk couples (both individuals are carriers of a disease-causing mutation) informing them that there is a 25% risk of having an affected child at each pregnancy.

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.

Prognosis

Life expectancy is normal. No significant impairment in quality of life is reported.