M L Khatri1, M Bemghazil, M Shafi, A Machina. 1. Department of Dermatology, Faculty of Medicine, Al-Fateh University of Medical Sciences and Central Hospital, Tripoli, Libya.
Abstract
BACKGROUND: A preliminary study of 24 cases of xeroderma pigmentosum (XP) was presented in 1990 and later published in 1992. Since then we have seen 18 further cases. OBJECTIVE: To study the clinical profile of Libyan cases of XP. METHODS: With the help of a special protocol, all 42 cases (23 girls and 19 boys from 29 families) treated and followed between 1981 and 1994 were subjected to detailed analysis. RESULTS: A history of consanguinity was present in the parents of 39 patients. XP in Libya is characterized by a relatively high incidence (approximately 15-20 per million of the population), early onset of initial manifestations (median age, 12 months) and malignant tumors (median age, 8 years), severe ocular and oral lesions in a high percentage of patients, and early death (median age, 15.5 years). The malignant skin tumors seen were squamous cell carcinoma (SCC) in 23 patients, basal cell carcinoma (BCC) in 17 patients, and basosquamous carcinoma in two patients. Malignant melanoma was not seen, but lentigo maligna was found in one case. SCC of the tongue, carcinoma of the thyroid, and lymphatic leukemia affected individual patients. Subnormal physical growth was observed in six patients, but none of the patients had significant neurologic abnormalities. The results of etretinate therapy in nine patients revealed that it is an effective preventive agent against carcinogenesis, but not a curative one. CONCLUSIONS: Severe ophthalmic manifestations affected a higher percentage of patients at an early age. Malignant melanoma did not develop in any case, except for lentigo maligna in one patient.
BACKGROUND: A preliminary study of 24 cases of xeroderma pigmentosum (XP) was presented in 1990 and later published in 1992. Since then we have seen 18 further cases. OBJECTIVE: To study the clinical profile of Libyan cases of XP. METHODS: With the help of a special protocol, all 42 cases (23 girls and 19 boys from 29 families) treated and followed between 1981 and 1994 were subjected to detailed analysis. RESULTS: A history of consanguinity was present in the parents of 39 patients. XP in Libya is characterized by a relatively high incidence (approximately 15-20 per million of the population), early onset of initial manifestations (median age, 12 months) and malignant tumors (median age, 8 years), severe ocular and oral lesions in a high percentage of patients, and early death (median age, 15.5 years). The malignant skin tumors seen were squamous cell carcinoma (SCC) in 23 patients, basal cell carcinoma (BCC) in 17 patients, and basosquamous carcinoma in two patients. Malignant melanoma was not seen, but lentigo maligna was found in one case. SCC of the tongue, carcinoma of the thyroid, and lymphatic leukemia affected individual patients. Subnormal physical growth was observed in six patients, but none of the patients had significant neurologic abnormalities. The results of etretinate therapy in nine patients revealed that it is an effective preventive agent against carcinogenesis, but not a curative one. CONCLUSIONS: Severe ophthalmic manifestations affected a higher percentage of patients at an early age. Malignant melanoma did not develop in any case, except for lentigo maligna in one patient.
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
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