ArticleCureus2025
Clinical Spectrum of Xeroderma Pigmentosum: An Observational Study.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
- Contrasting Ocular Manifestations of Xeroderma Pigmentosum in Siblings.Clinical case reports · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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