Clinical Spectrum of Xeroderma Pigmentosum: An Observational Study

Background Xeroderma pigmentosum (XP) is an uncommon condition caused by impaired UV radiation-induced damage repair. It is brought on by deficiencies in either post-replication repair or nucleotide excision repair, which can result in neurological, ophthalmic, and cutaneous problems. With a focus on mucocutaneous symptoms, associated malignancies, and systemic involvement, this study aims to record and examine the diverse clinical presentations of XP. Methodology A total of 10 clinically diagnosed XP patients participated in this 12-month prospective observational study conducted at a tertiary care center between April 2024 and April 2025. A comprehensive history, consent, and a dermatological, ophthalmic, neurological, and systemic examination were obtained. Results Of the 10 cases, there were four (40%) female and 6 (60%) male cases. The age of onset was less than one year in seven (70%) cases, between one and two years in two (20%) cases, and more than two years in one (10%) case. Poikiloderma (10, 100%), freckles (8, 80%), xerosis (8, 80%), lentigenes (6, 60%), skin atrophy (6, 60%), and seborrheic keratosis (4, 40%) were among the cutaneous findings. Neurological involvement was present in two (20%) cases. The ocular findings included photophobia in seven (70%) cases, conjunctival xerosis in six (60%) cases, and cataract in five (50%) cases. Further, two (20%) squamous cell carcinomas, three (30%) basal cell carcinomas, one (10%) lip carcinoma, one (10%) tongue carcinoma, and two (20%) buccal cavity carcinomas were among the mucocutaneous malignancies detected. The extracutaneous cancers observed were one (10%) sarcoma and one (10%) stomach carcinoma. Conclusions XP exhibits a wide spectrum of clinical manifestations, including aggressive cancers and pigmentary abnormalities. Enhancing life expectancy and quality of life requires early diagnosis, careful screening for cancer, sun protection, and genetic counseling.