Xeroderma pigmentosum in three consecutive siblings of a Nigerian family: observations on oculocutaneous manifestations in black African children
- Department of Paediatrics, Usmanu Danfodiyo University, Teaching Hospital, PMB 2370, Sokoto, Nigeria
- UDUTH, Sokoto, Nigeria
- University of Maiduguri Teaching Hospital, Maiduguri, Nigeria
- Accepted 22 May 2000
- Department of Paediatrics, Usmanu Danfodiyo University, Teaching Hospital, PMB 2370, Sokoto, Nigeria
- UDUTH, Sokoto, Nigeria
- University of Maiduguri Teaching Hospital, Maiduguri, Nigeria
- Accepted 22 May 2000
- Department of Paediatrics, Usmanu Danfodiyo University, Teaching Hospital, PMB 2370, Sokoto, Nigeria
- UDUTH, Sokoto, Nigeria
- University of Maiduguri Teaching Hospital, Maiduguri, Nigeria
- Dr Ahmed
- Accepted 22 May 2000
Editor,—Xeroderma pigmentosum (XP), a rare autosomal recessive disorder characterised by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation, manifesting mainly as intolerance of skin and eyes to light, has been described in all races, but is exceedingly rare in the negroid race, although some cases have been reported in both the American and African black people.We describe three consecutive siblings of a Nigerian, Fulani, family with the typical features of XP. We wish to draw attention to the clinical, phenotypic variations of this syndrome in black children of the same family living together in an area of high sunshine, and the difficulties in the management of XP patients with advanced disease and limited access to facilities in an environment where avoidance of skin exposure to intense ultraviolet rays is problematic. We believe the patients we have described constitute the first series on XP in black children in the west African subregion.
CASE REPORTS
Case 1
The proband, a 9 year old girl, was first seen at Usmanu Danfodiyo University Teaching Hospital (UDUTH), Sokoto (13.02° N, 5.14° E), Nigeria, in February 1999 with a history of the development of generalised erythema of the skin of the limbs, face, and trunk from the age of 1 week, on exposure to sunshine, with the large red spots changing into dark lesions with blistering. This was followed by the development of photophobia from the age of 1½ years, skin lesions, comprising freckles, on limbs and face, hypopigmented and hyperpigmented lesions covering both sun exposed and covered areas of the skin with onset from age 2 years, relentless worsening of vision from the age of 2 years, and development of an ulcer on the right cheek at the age of 7½ years which had become persistent. The child was a product …
