Bedeutung des Hallopeau-Siemens-Syndroms in der MKG Chirurgie

Epidermolysis bullosa dystrophica hereditaria (Hallopeau-Siemens syndrome) is the most frequent form of recessive inheritable dystrophic epidermolysis. It occurs frequently in geographic areas with high blood relationship (Northsweden, Aargau/Switzerland, Schlüchtern/Germany). Ectodermal dysplasia, esophagal stenosis as well as occurrance of squamous cell carcinomas in the head and neck region are significant symptoms of this disease. We report a case of a 41 year old male patient, child of a consanguine relationship of father and daughter. First signs of the disease with acral epidermiolysis appeared in early childhood. At the age of 24 a genetic examination confirmed the diagnosis when leukokeratosis and a stenosis of the esophagus were detected. 15 years later we performed surgery on a squamous cell carcinoma of the mouth. Surgical reconstruction of the cheek defect was done with a doublesided forearm flap. Ectropions of both lower lids, caused by dermatrophia, were corrected with split-skin grafts during the same operation. Apart from surgical efforts the goal of plastic and reconstructive techniques is to reestablish and maintain tissue function within the head and neck area. The aim of this report is to demonstrate different techniques to restore skin and mucosal defects. Additionally this case demonstration emphasizes the appearance of squamous cell carcinomes within skin and mucous lesions based on a genetic predisposition. In these cases a longtime clinical follow up is recommended. Parole chiave: Hallopeau-Siemens, recessive dystrophic epidermolysis bullosa, oral and maxillofacial surgery