ArticleAnnals of Saudi medicine
Xeroderma pigmentosum at a tertiary care center in Saudi Arabia.
Article in Annals of Saudi medicine. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 12 citations in OpenAlex.
- Clinical manifestation and genetic analysis of familial rare disease genodermatosis xeroderma pigmentosum.Intractable & rare diseases research · 2021Article
- Effect of Pegylated Interferon and Mitomycin C on Ocular Surface Squamous Neoplasia in Xeroderma Pigmentosum: A Case Series.The American journal of case reports · 2020Article
- Histopathological pattern of skin cancer in Western region of Saudi Arabia. An 11 years experience.Saudi medical journal · 2018Article
- Corneoscleral locally aggressive fibrous histiocytoma in Xeroderma Pigmentosum patient: A case report.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyArticle
- Cutaneous Malignancy of the Head and Neck in Patients with Xeroderma Pigmentosum: A Report of Three Cases.Journal of the West African College of SurgeonsArticle
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundXeroderma 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.
objectivesDescribe the dermatologic manifestations in patients suffering from XP.
designRetrospective, descriptive review of medical records.
settingDermatology clinic at tertiary care center in Riyadh. PATIENTS AND
methodsThis study included Saudi patients with clinically confirmed XP. MAIN OUTCOME MEASURE(S): Demographic and clinical data including pathology and associated conditions and outcomes.
resultsOf 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.
conclusionConsidering 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.
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