XERODERMA PIGMENTOSUM: LIVING IN THE DARK BUT WITH HOPE IN THERAPY

Xeroderma pigmentosum patients suffer from extreme photosensitivity caused by a genetic defect in DNA repair pathways. This condition obliges them to live in darkness and avoid sunshine. Although the molecular basis of the defect has been known for more than 40 years now, the treatment possibilities are very limited, and to date all have been focused on the skin. Herein, we summarize the effects of sunlight and the molecular mechanisms implicated in the defects that lead to this syndrome, as well as the strategies that have been tested to alleviate skin manifestations, including cancer. Preclinical attempts to correct genetic defects by means of different gene therapy approaches are also described. All these efforts are now bringing hope and some light into the life of patients and their families.

Immediate conservative breast surgery reconstruction with perforator flaps: New challenges in the era of partial mastectomy reconstruction?

Introduction: Although the use of local flaps in conservative breast surgery (CBS) reconstruction is a reliable technique, little information has been available regarding outcome following the use of perforator flaps. The purpose of this study is to analyze the feasibility, surgical planning and outcome following CBS reconstruction with intercostal artery perforator (ICAP) flap. Patients/methods: Thirteen patients underwent CBS reconstructions with an ICAP flap. These flaps were raised from adjacent tissue located on the lateral and thoracic region and based on perforators originating from the costal and muscular segment of the intercostal vessels. The technique was indicated in patients with small/moderate volume breasts. Results: Mean time of follow-up was 32 months. Flap complications were evaluated and information on patient satisfaction were collected. 61.5 percent had tumors located in the lower-outer quadrants and 69.2 percent had tumors measuring 2 cm or less (T1). Complications occurred in 3 patients (23%), including wound dehiscence in 2 patients and fat necrosis in one. All cases were treated by conservative approach with a good result. No flap loss or wound infection were reported. 90 percent were either satisfied or very satisfied with their result. Conclusion: The ICAP flap is a reliable technique for immediate CBS reconstruction. The technique is advantageous because it does not require the use of muscle transfer, with minimum donor site morbidity. Success depends on patient selection, coordinated planning with the oncological surgeon and careful intra-operative management. (C) 2011 Elsevier Ltd. All rights reserved.