Genetic variations of patients with familial or multiple melanoma in Southern Brazil.

BACKGROUND: Patients with familial melanoma or multiple primary melanoma represent a high-risk population to hereditary melanoma. Mutations in susceptibility genes, such as CDKN2A, CDK4 and MC1R, have been associated with the development of melanoma. OBJECTIVES: The purpose of this study was to determine the genotypic background of patients with familial and/or multiple melanoma in southern Brazil. METHODS: This study analysed 33 cases (5 patients with multiple primary melanoma and 28 patients from families with at least two well documented cases) and 29 controls. Genomic analysis of CDKN2A and CDK4 genes by PCR-SSCP analysis and sequencing and direct sequencing of MC1R were performed in all individuals. RESULTS: No functional mutations in CDKN2A or CDK4 were detected in the 62 individuals. Infrequent variants in polymorphic loci of CDKN2A gene were identified in 15 participants (24.2%) and 24/33 (72.8%) cases and 19/27 (70.4%) controls reported at least one infrequent variant in MC1R (P = 0.372). Furthermore, a non-significant tendency towards an association between melanoma risk and MC1R variants G274A and C451T and a non-significant linear tendency to the number of infrequent high-risk variants in MC1R were observed. CONCLUSIONS: These results suggest that in southern Brazilian population, CDKN2A or CDK4 germinal alterations may have a weaker influence than previously thought and environmental risk factors may play a central role in melanoma susceptibility. However, considering the tendency observed for gene MC1R, low-penetrance genes may be a relevant aetiological factor in southern Brazil with fair skin population and high sunlight exposure.

Efficacy of UVA1 phototherapy in 230 patients with various skin diseases.

OBJECTIVE: Investigation of the efficacy of ultraviolet (UV) A1 phototherapy on atopic eczema, scleroderma, granuloma annulare, urticaria pigmentosa, prurigo nodularis, lichen sclerosus et atrophicus, T-cell lymphoma, keratosis lichenoides chronica, chronic urticaria and some rare, sclerosing skin diseases. METHODS: The data of 230 patients treated with low-dose, medium-dose and high-dose UVA1 therapy during 6 years were retrospectively analysed. The mean single dose (J/cm(2)), the mean number of irradiations and the mean total dose (J/cm(2)) were evaluated. The efficacy of phototherapy was assessed by a grading scale and the number of patients was given in percentage for each group. RESULTS: Good therapeutic effects of UVA1 therapy were shown in patients with atopic eczema, scleroderma, lichen sclerosus et atrophicus, keratosis lichenoides chronica, prurigo nodularis and with cutaneous T-cell lymphoma. Positive effects in some patients were seen in the urticaria pigmentosa and granuloma annulare group, no change to slight improvement was seen in most of the patients with rare, sclerosing skin diseases and no effect was seen in the chronic urticaria group. CONCLUSION: Besides topical and systemic therapy, UVA1 radiation is a good option of treatment in various skin diseases. It is one of the first-line treatments for several sclerotic diseases and it often improves pruritus considerably.