Childhood and adult-onset xeroderma pigmentosum: clinical evaluation with striking new findings

Background: Xeroderma pigmentosum variant (XP-V) is a genetic disorder that starts in early childhood with a mild disease course. The aim of study was to record all cases of XP-V that were seen and examined over a specific period. Methods: This descriptive study included 48 patients; there were 4 (8.33%) patients with xeroderma pigmentosum (XP) and 44 (91.66%) patients with XP-V. Patients with XP-V were divided into childhood and adult-onset types. Results: Childhood-onset type was detected in 34 patients, including 20 (58.82%) males and 14 (41.17%) females. Their ages ranged from 3-25 years, with a mean of 15 years. Freckling and solar keratosis were observed in 100% and 23.68% of patients, respectively, while non-melanoma skin cancer (NMSC) was detected in 8 (21.05%) patients, including one case with squamous cell carcinoma (SCC) and 7 with keratoacanthoma. In the adult-onset type, ten cases were seen, half of each gender. Their ages ranged from 23-60 years, with a mean of 32 years. Patients gave a history of early adult onset of their disease. Skin hyper-photosensitivity was the first problem, followed gradually by other features of solar damage to the face, including freckles and solar keratosis. SCC and keratoacanthoma were each observed in two patients. Conclusions: The clinical picture of XP-V was similar to ordinary XP but with late age onset and a slower course. The clinical picture of adult-onset XP-V was similar to the childhood type.