Abstract
BACKGROUND: Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder caused by defective DNA repair that results in extreme sensitivity to ultraviolet (UV) rays. Depending on the type of XP, the disease may affect the skin, eyes and nervous system.
OBJECTIVES: Describe the dermatologic manifestations in patients suffering from XP.
DESIGN: Retrospective, descriptive review of medical records.
SETTING: Dermatology clinic at tertiary care center in Riyadh.
PATIENTS AND METHODS: This study included Saudi patients with clinically confirmed XP.
MAIN OUTCOME MEASURE(S): Demographic and clinical data including pathology and associated conditions and outcomes.
RESULTS: Of 21 patients with XP, the most common manifestation was lentigines, affecting 18 patients (86%). The most common skin cancer was basal cell carcinoma followed by squamous cell carcinoma (SCC) affecting 15 (71.4%) and 9 (42.8%), respectively. Other skin findings included neurofibroma, trichilemmoma and seborrheic keratosis. Ocular involvement included photophobia, which was the most common finding followed by dryness and ocular malignancies. Two patients showed neurological involvement, which correlated with the type of mutation.
CONCLUSION: Considering that XP is a rare genetic disease, this description of our patient population will aid in early recognition and diagnosis.
LIMITATIONS: Retrospective and small number of patients. Genetic analyses were done for only 5 of the 21 patients.