Clinical and molecular findings in IPEX syndrome.

IPEX (immunodysregulation, polyendocrinopathy, enteropathy, X linked syndrome) is a rare disorder which usually results in death in early infancy or childhood. Clinical awareness remains the cornerstone of diagnosis, and provided that the diagnosis is entertained, mutation analysis for FOXP3 gene mutations can be confirmatory. Two new patients in whom IPEX was diagnosed retrospectively are reported.     

The galea fascia flap in orbital reconstruction: innovative harvest technique.

AIM: To report the treatment of a recurrent adenoid-cystic carcinoma of the lacrimal gland required orbital exenteration with an en bloc resection of the lateral orbital rim and wall and an anterior portion of the temporal muscle. Reconstruction was planned with both the objectives of a shortened healing time for faster epithetic reconstruction and no visible scars. METHOD: After a cranially extended temporal approach, the dissection of the superficial galea layer was connected with the subcutaneous dissection of the upper and lower eyelid after subciliary incisions. RESULTS: Ample exposure of the temporal, frontal and orbital region was obtained, facilitating the orbital exenteration with en bloc resection of the lateral orbital rim and wall and the anterior portion of the temporal muscle. The epithelialization of the eye socket covered with the galea fascia flap was accelerated, providing faster epithetic reconstruction, without visible scars. CONCLUSIONS: Healing time is accelerated, providing faster epithetic rehabilitation without visible scars, which is important in the postoperative rehabilitation ladder after eye exenteration for both patient and surgeon. Further more ablative surgery within this region gets safer and easier due to the ample exposure of this innovative surgical technique. Further evaluation of the effectiveness and safety of this new approach is advisable.