Acral peeling skin syndrome Q81.9

Acral peeling skin syndrome is a rare, autosomal recessive genodermatosis belonging to the suprabasal variants of epidermolysis bullosa simplex characterized by painless, spontaneous exfoliation, sometimes accompanied by blistering of the hands and feet. The disease usually appears at birth or somewhat later in childhood, but occasionally it appears in early adulthood. In general, relapsing activity is reported in the presence of heat, moisture, or friction.

Molecular studies have identified mutations in the TGM5 gene (chromosome 6p21.33), which encodes transglutaminase 5, a gamma-glutmamyltransferase that plays an important role in the cross-linking of cornified cell envelope proteins.

Recently identified in this syndrome is a mutation in the CSTA gene, which encodes cystatin A (Krunic AL et al 2013). Cystatin A is a protease inhibitor found in the stratum corneum of the skin (Krunic AL et al. 2013).

Clinically, a (non-inflammatory) coarse lamellar desquamation of the acral parts of hands and feet usually impresses. Fresh exfoliations may be accompanied by erythema. Rhagades, which may also be painfully superinfected, are not uncommon. Mucous membranes are not affected. Nor are there any hair anomalies. Other organ involvement is not to be expected.

The skin biopsy shows a superficial cleft formation between the stratum granulosum and the statum corneum, without an inflammatory component.

Minus variant of atopic dermatitis (see other signs of atopy)

Localized autosomal dominant epidermolysis bullosa simplex (Weber Cockayne type)

There is no well-codified treatment; topical corticosteroids, nourishing not overly greasy ointments, and mild keratolytics are recommended.

Systemic retinoids are reserved for cases where disability is present.

The formation of blisters decreases with age. Later, only an increased desquamation with rhagade formation is complained about.

1. Bowden PE (2011) Peeling skin syndrome: genetic defects in late terminal differentiation of the epidermis. J Invest Dermatol 131: 561-564.
2. Oumakhir S et al (2009) Le syndrome de desquamation continue de localisation plantaire. Ann Dermatol Venereol 136: 391-39.
3. Kiprono SK et al (2012) Acral peeling skin syndrome in two East-African siblings: case report. BMC Dermatol 12: 2.
4. Krunic AL et al (2013) Acral peeling skin syndrome resulting from a homozygous non-sense mutation in the CSTA gene encoding cystatin A. Pediatr Dermatol 30: e87-e88.
5. Schmuth M et al.(2013) Inherited ichthyoses/generalized mendelian disorders of cornification. Eur J Hum Genet 21: 123-133.
6. Sqalli HA et al. (2019) Acral peeling skin disease: about 2 cases. Medical Journal of Clinical Trials & Case Studies 3: DOI: 10.23880/mjccs-16000210.