Un cas de xeroderma pigmentosum observé au CNHU-HKM de Cotonou

Introduction : Xeroderma pigmentosum (XP) is a genetic disorder, leading to increased sensitivity to ultraviolet radiation with consequences such as specific skin lesions on areas of photoexposure. Case report : It was about a 3 year old boy, with no particular family history, received for skin discolorations of the face, evolving since one year, with a beginning during neonatal period marked with the occurence of bullous skin lesions on photoexposed areas. No triggering factor was identified. The course of the disease was marked by the appearance of discolored macules. Accompagnying signs were photophobia and tearing. The skin lesions were evolving through oubreaks and remission periods in a context of psychomotor retardation. XP was discussed based on clinical arguments. No specific paraclinic assessement was performed. Sun protection and a skin emollient were prescribed. Monitoring was ophtalmologic and neurological. Conclusion : XP was discussed based on recurring bullous skin lesions on photoexposed areas, starting during the neonatal period. Paraclinic assessment would have allowed the confirmation of the diagnosis. With risks of complications, a multidisciplinary management is necessary.