Unusual clinical course, Rare disease, Congenital defects / diseases, Educational Purpose (only if useful for a systematic review or synthesis)
Reshmi Mathew, Olufemi B. Omole, Jonathan Rigby, Wayne Grayson
(Family Medicine Unit, Sedibeng District Health Services, Vanderbijlpark, South Africa)
Am J Case Rep 2014; 15:589-592
Acral peeling skin syndrome is a rare autosomal recessive disorder in which skin exfoliation is limited to the hands and feet. While it typically manifests from early childhood, in this first reported case from South Africa, the patient did not manifest clinically until the fourth decade of life.
Case Report: A 44-year-old woman of African descent, 1 of a set of non-identical twins, presented with recurrent episodes of skin peeling of the upper and lower limbs. The first episode occurred 4 years prior, followed by perennial skin peeling during the spring seasons. She was not on treatment for any chronic disease and reported no exposure to chemicals or other irritants. The family, including the non-identical twin sister, has no history of skin disorders and the patient’s HIV antibody test was negative. At presentation, physical examination revealed ongoing exfoliation with new skin formation on the palms and soles. The mucous membranes and nails were spared. Other systems were normal. Skin biopsy taken from the palms confirmed peeling skin syndrome. The patient was managed with topical aqueous cream and analgesics. She was briefly counseled on the nature and prognosis of the disease, and referred for genetic testing and counseling. On follow-up, she continues to have skin peeling once or twice a year.
Conclusions: This first reported case of this rare disease in South Africa contributes to the growing body of literature on the disease and highlights the need for clinicians to be aware of its variable clinical onset.
Keywords: Dermatitis, Exfoliative - therapy, Age of Onset, Adult, Female, Humans, Pigmentation Disorders - therapy, South Africa, Twins, Dizygotic