PURPOSE: To present our experience with the clinical features and management of black African patients with xeroderma pigmentosum (XP). PATIENTS AND METHODS: Twelve patients with XP were seen over a 25-year period, and were retrospectively reviewed for age, gender, clinical features, treatment, and follow-up. RESULTS: There were 8 females and 4 males with an age range of 3 to 18 years. One patient, the longest survivor, was followed until death at 18 years. Nine patients had the severe form of XP and 3 had the mild form. All patients had early ocular involvement with photophobia and early blindness. Squamous cell carcinoma (SCC) was present on the skin, lip, and tongue in most patients. One patient had ocular surface SCC. There was marked skin photosensitivity. No history of consanguinity was noted in the parents of the patients. Surgery was the treatment modality of choice. Follow-up was poor. CONCLUSION: XP is uncommon in our black population, and presents in the severe form with SCC as the malignant skin, lip, and tongue lesion. It is common in early childhood with severe photosensitivity, photophobia, and eventual blindness. Follow-up is difficult in our environment.
PURPOSE: To present our experience with the clinical features and management of black African patients with xeroderma pigmentosum (XP). PATIENTS AND METHODS: Twelve patients with XP were seen over a 25-year period, and were retrospectively reviewed for age, gender, clinical features, treatment, and follow-up. RESULTS: There were 8 females and 4 males with an age range of 3 to 18 years. One patient, the longest survivor, was followed until death at 18 years. Nine patients had the severe form of XP and 3 had the mild form. All patients had early ocular involvement with photophobia and early blindness. Squamous cell carcinoma (SCC) was present on the skin, lip, and tongue in most patients. One patient had ocular surface SCC. There was marked skin photosensitivity. No history of consanguinity was noted in the parents of the patients. Surgery was the treatment modality of choice. Follow-up was poor. CONCLUSION: XP is uncommon in our black population, and presents in the severe form with SCC as the malignant skin, lip, and tongue lesion. It is common in early childhood with severe photosensitivity, photophobia, and eventual blindness. Follow-up is difficult in our environment.
Authors: Porcia T Bradford; Alisa M Goldstein; Deborah Tamura; Sikandar G Khan; Takahiro Ueda; Jennifer Boyle; Kyu-Seon Oh; Kyoko Imoto; Hiroki Inui; Shin-Ichi Moriwaki; Steffen Emmert; Kristen M Pike; Arati Raziuddin; Teri M Plona; John J DiGiovanna; Margaret A Tucker; Kenneth H Kraemer Journal: J Med Genet Date: 2010-11-19 Impact factor: 6.318
Authors: Hema L Ramkumar; Brian P Brooks; Xiaoguang Cao; Deborah Tamura; John J Digiovanna; Kenneth H Kraemer; Chi-Chao Chan Journal: Surv Ophthalmol Date: 2011 Jul-Aug Impact factor: 6.048