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OBJECTIVE: Elucidating the pathogenesis and management of xeroderma pigmentosum (XP), a rare genetic disorder due to molecular defects in nucleotide excision repair genes, resulting in ultraviolet-induced lesions. It occurs in all races. There are eight groups; XP-A to XP-G and XP-V variants corresponding to the eight affected genes.
CASE REPORT: A fourteen-year-old boy from Southwestern Nigeria, who was diagnosed with XP is presented. He had multiple cutaneous macules in sun-exposed areas, significant corneal scarring of the left eye but neurodegenerative features were absent. He also had a nodular swelling on the right side of his lower lip histologically diagnosed as a well-differentiated squamous cell carcinoma.
CONCLUSION: A diagnosis of XP should be considered in a child with multiple skin macules especially at sun exposed sites, ocular scarring, mucocutaneous malignancies or neurodegeneration at an early age. Testing for defective DNA repair genes confirms or excludes the diagnosis. Meticulous photo protection reduces risk of cutaneous malignancies and this poses a great challenge to effective management of patients in tropical Africa.