XERODERMA PIGMENTOSUM: SIX CASES OBSERVED IN ETHIOPIA

Morrone A., De Vita R., Amantea A., Terranova M., Padovese V., Catricalà C.

21° WORLD CONGRESS OF DERMATOLOGY
Buenos Aires, 30 September – 5 October 2007

Background
Xeroderma Pigmentosum is a hereditary disorder affecting the mechanisms that regulate DNA repair, and can cause an increase in the death of cells or a delay in their replication and it can also facilitate a neoplastic transforma¬tion of the cells. This genodermatosis is a rare autosomal recessive disease and it is characterized by severe photosensitivity and especially malignant and precocious tumours (e.g. malignant melanoma, brain tumors, testicular tumors, pulmonary cancer, or appearance of leukemia). Inbreeding increases the likelihood of a person being born with this disease - it normally manifests itself in about 1 out of every 200,000 live births-there is an increased prevalence of Xeroderma Pigmentosum in cultures that do not discourage this type of reproductive behavior, in Tunisia, for example, 1 out 10,000 people have this disease. The disorder manifests itself in skin, eye, and central nervous system diseases.
Moreover, Xeroderma Pigmentosum is particularly correlated with precocious skin tumors (this is especially true in areas like Ethiopia, where residents are subject to high levels of sun exposure).
Method
During the first 24 months’ medical activity (February 2005-January 2007) in the Italian Dermatological Centre of Mekele, the capital city of Tigray region, in Ethiopia, 20,703 patients have been examined.
Results
Six cases of X P were found, with two familiar cases.
Discussion
We present six cases of XP. All patients were children (4 females and 2 males), In particularly we discuss the cases of two siblings: ASM a 5 year-old boy, and NSM a 9 year-old girl. Both had solar lentigo and solar keratosis on their faces, hands, necks, and upper torso (that is, those pats of the body most exposed to the sun). ASM had a squamous cell carcinoma of the nose. NSM, who is also completely blind, had a nodular lesion on her scalp in the area of her left parietal. The lesion, which turned out to be nodular melanoma, was about 8 cm in diameter with a soft consistency and frequent bleeding. Both of the children were transferred to San Gallicano Institute in Rome (Italy), where they received treatment, genetic examination and follow-up care. At their six-month follow-up, we found a relapse of melanoma in NSM, while ASM remains in good condition.
References
1. Jacyk WK. Xeroderma pigmentosum in black South Africans. Int J Dermatol. 1999 Jul; 38 (7): 511-4.
2. Fazaa B, Zghal M, Bailly C, Zeglaoui F, Goucha S, Mokhtar I, Kharfi M, Ezzine N, Kamoun MR. Melanoma in xeroderma pigmentosum: 12 cases. Ann Dermatol Venereol. 2001 Apr; 128 (4): 503-6.
3. Pitche P. Xeroderma pigmentosum in Subsaharan Africa. Ann Dermatol Venereol. 2005 Jan; 132 (1): 49.