Epidemiology of inherited epidermolysis bullosa in Romania and genotype-phenotype correlations in patients with dystrophic epidermolysis bullosa.

BACKGROUND: Epidermolysis bullosa (EB) is a rare and so far incurable genetic disease, affecting mainly the skin and mucosal membranes, manifesting with blisters triggered by minor mechanical trauma. Since only few epidemiological data on EB are available, we established a Registry for EB and implemented molecular diagnostic methods. OBJECTIVE: We present epidemiologic data from the EB Registry and genotype-phenotype correlations. METHODS: In 2006, a registry of patients with EB was initiated in the Department of Dermatology of the University of Medicine, as well as molecular diagnostic tools. The patients were diagnosed on clinical bases, and whenever possible, immunofluorescence mapping and molecular analysis were performed. RESULTS: 89 EB patients were enrolled in the study from 2006 to 2012: 58 patients with dystrophic EB (DEB), 20 with EB simplex, one patient was diagnosed with Kindler syndrome; in 10 patients, the type of EB could not be determined. DISCUSSION AND CONCLUSION: We have estimated, the total number of EB patients in Romania and we have estimated the incidence and the prevalence of EB. We have also managed to approximate the distribution of EB types in Romania. Moreover, we performed a phenotypic and genotypic characterization in some of the patients included in the EB register.

Photodynamic therapy using topical 5-aminolaevulinic acid vs. surgery for basal cell carcinoma.

BACKGROUND: Photodynamic therapy (PDT) is an attractive modality for the treatment of BCC, based on its generally favorable efficacy, adverse effect profile and its excellent cosmetic outcome. OBJECTIVES: The purpose of the study is to compare the efficacy and cosmetic outcome of photodynamic therapy with topical 5-aminolaevulinic acid (ALA-PDT) vs. simple excision surgery for superficial and nodular basal cell carcinoma (BCC). METHODS: A total of 72 patients, 32 with 48 lesions, were treated with ALA- PDT, and 40 with 46 lesions treated by excision were included in this prospective, comparative, controlled, clinical study. The patients have been followed for 16-37 months (mean 25 months). The PDT was performed in combination with 5-aminolaevulinic acid twice, one month apart. Surgical excision was performed under local anesthesia with a 3-mm margin, followed by histological examination. The cosmetic outcome was evaluated by the physician according to a 4-point scale. RESULTS: Overall 94 BCC were treated. Complete healing rates did not differ significantly between groups, P = 0.64 (46/48 [95.83%] lesions treated with PDT vs. 44/46 [95.65%] lesions with surgery). In the first 12 months of follow-up, 4 lesions had recurred, 2 of which were in the PDT group while 2 lesions after surgery. The mean follow-up was 25 months. The recurrence rate in the ALA-PDT group was 4.16% vs. 4.34% in the surgery group, p = 0.64. The cosmetic outcome was superior for ALA-PDT at all time points. At 12 months, 100% lesions treated with ALA-PDT had an excellent or good cosmetic outcome, according to the investigator, compared with 88.86% with surgery, P = 0.01. CONCLUSION: ALA-PDT offers a similarly high efficacy, and a better cosmetic outcome than simple excision surgery in the treatment of BCC.