International Society of Dermatology - Palm Coast, FL - USA

ABSTRACT

Introduction: 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 transformation 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 leukaemia). 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 behaviour, 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 tumours (this is especially true in areas like Ethiopia, where residents are subject to high levels of sun exposure).
Methods: During the first 18 months’medical activity (January 2005-July 2006) in the Italian Dermatological Centre of Mekele, the capital city of Tigray region, in Ethiopia, 14,510 patients have been examined.
Results: Six cases of Xeroderma Pigmentosum were found. In particular, we observed two familiar cases.
Discussion: We present the case 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 parts 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

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