DOI: https://doi.org/10.36347/sjmcr.2026.v14i11.013

Pages: 2457-2461

Background: Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder characterized by extreme sensitivity to ultraviolet (UV) radiation, progressive cutaneous pigmentation abnormalities, and an increased risk of skin malignancies. Ocular and neurological manifestations may also occur, depending on the genetic subtype. XP is particularly associated with consanguinity and remains rarely documented in sub-Saharan Africa. Objective: To describe the clinical characteristics, cutaneous manifestations, ophthalmological abnormalities, neurological involvement, and management of two familial cases of xeroderma pigmentosum evaluated at the Dermatology Hospital of Bamako, Mali. Case Presentations: We report two cases involving siblings aged 8 and 18 years, born to consanguineous parents, who presented with characteristic manifestations of XP. The first patient, an 8-year-old girl, exhibited multiple hyperpigmented macules distributed over sun-exposed areas and an ulcerative proliferative lesion involving the nasal ala. Ophthalmological and neurological examinations were normal. Genetic testing confirmed xeroderma pigmentosum type A (XPA). Treatment included 5% urea-containing petroleum jelly, photoprotective cream, and protective clothing recommendations, resulting in marked improvement in cutaneous lesions after several weeks. The second patient, an 18-year-old male sibling, presented with extensive lentigines, hypopigmented macules, poikilodermatous changes, cutaneous atrophy, and supernumerary teeth. Ophthalmological examination revealed corneal dystrophy, while neurological assessment demonstrated an ataxic gait, positive Romberg sign, apraxia, upper-limb hypertonia, absent deep tendon reflexes, impaired proprioception, and growth retardation. A clinical diagnosis of XP was established, and genetic investigations were ongoing. Management included topical emollients, photoprotection, retinoid therapy, and lifestyle modifications. Conclusion: Xeroderma pigme