Xeroderma pigmentosa: a report of three paediatric cases in Eastern Zambia, and review of the literature of this rare condition amongst sub-Saharan Africans (case report)

Abstract

The diagnosis and management of xeroderma pigmentosa (XP) remains a challenge in sub-Saharan Africa due to limited health care access, lack of specialist care and weak diagnostic testing. The purpose of this paper is to highlight the importance of clinical approach in the diagnosis of XP in a low resource setting and to discuss some of the challenges these patients face living with XP. Three cases of children who presented with signs and symptoms of XP are discussed; their case histories are notable for demonstrating some of the challenges of managing the condition in sub-Saharan Africa. Management of XP is particularly complicated by the fact that there is no known cure for the condition and the need for complete shielding from ultraviolet (UV) light in a region with warm weather and abundant sunshine. A previously unreported effect of XP on the patients and their families is stigma and social exclusion. Setting up of, and linking the clients to psychosocial support groups would be of great benefit in alleviating the psychological effects of the disease.