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.

Penile straightening with crural graft of the corpus cavernosum.

PURPOSE: We present a surgical alternative to penile straightening in Peyronie's disease that avoids penile shortening by using tissue from the crural segment of the corpora cavernosa as a graft. MATERIALS AND METHODS: We treated 7 patients with stable Peyronie's disease and satisfactory penile rigidity but significant curvature that precluded intercourse with this technique. An incision is made in the fibrous area and after stretching the gap is covered with a graft removed from the crural segment of the corpora cavernosa. RESULTS: In 6 of the 7 men straightening was satisfactory but in 1 it was not complete. No patient reported worse penile rigidity postoperatively. Donor site healing was uneventful. CONCLUSIONS: Use of tissue from the corpus cavernosum to correct penile curvature is effective. However, our results are preliminary, and long-term effectiveness and safety must be confirmed in a larger number of cases.

Tamoxifen versus placebo in the treatment of Peyronie's disease.

PURPOSE: We evaluated the effects of oral tamoxifen and placebo in patients with Peyronie's disease. MATERIALS AND METHODS: We selected 25 patients with Peyronie's disease who did not have calcified plaque for treatment in the andrology outpatient clinic. A medical history was obtained, and physical examination, penile x-ray, penile ultrasound and pharmacologically induced erection with prostaglandin E1 were performed. Patients were randomly divided into group 1--those who received 20 mg. tamoxifen twice daily for 3 months and group 2--those who received placebo for the same period. The same evaluations were done 4 months later and results were compared. Qualitative (chi-square test) and quantitative (Student's t test) results were analyzed using the Yates correction factor with p <0.05 considered significant. RESULTS: Pain subsided in 66.6 and 75% of the patients treated with tamoxifen and placebo, respectively (p >0.05). In groups 1 and 2 a reduction in the penile deformity was noticed by 46.1 and 41.7% of the patients (p >0.05), and a decrease in plaque size was noticed by 30.7 and 25%, respectively. On the other hand, objective measurements did not reveal any difference in plaque area or curvature angle. CONCLUSIONS: This study did not show significant improvement in pain, curvature or plaque size in patients with Peyronie's disease who were treated with tamoxifen compared with those treated with placebo.