Abstract：
Epidermolysis bullosa (EB) encompasses a range of rare genetic dermatological conditions characterized by mucocutaneous fragility and a predisposition to blister formation, often triggered by minimal trauma. Blisters in the pharynx and esophagus are well-documented, particularly in dystrophic EB (DEB). However, there have been few reports of mucocutaneous squamous cell carcinoma (SCC) in the head and neck region, for which surgery is usually avoided. This report presents the first case of free jejunal flap reconstruction after total pharyngolaryngoesophagectomy for hypopharyngeal cancer in a 57-year-old patient with DEB. The patient with a known diagnosis of DEB had a history of SCC of the left hand and esophageal dilatation for esophageal stricture. PET-CT imaging during examination of systemic metastases associated with the left-hand SCC revealed abnormal accumulation in the hypopharynx, which was confirmed as SCC by biopsy. Total pharyngolaryngoesophagectomy was performed, followed by reconstruction of the defect using a free jejunal flap. A segment of the jejunum, approximately 15 cm in length, was transplanted with multiple vascular pedicles. The patient made an uneventful recovery postoperatively and was able to continue oral intake 15 months later with no complications and no recurrence of SCC in the head and neck region. While cutaneous SCC is common in DEB, extracutaneous SCC is relatively rare. In most previous cases, non-surgical approaches with radiotherapy and chemotherapy were chosen due to skin fragility and multimorbidity. In the present case, vascular fragility and mucosal damage of the intestinal tract were not observed, and routine vascular and enteric anastomoses could be performed, with an uneventful postoperative course. Our findings suggest that highly invasive surgery, including free tissue transplantation such as with a free jejunal flap, can be performed in patients with DEB.
摘要：
大疱性表皮松解症（EB）包括一系列罕见的遗传性皮肤病，其特征是粘膜皮肤脆性和水疱形成倾向。通常由最小的创伤触发。咽部和食道的水泡是有据可查的，特别是在营养不良的EB（DEB）。然而,很少有头颈部粘膜皮肤鳞状细胞癌（SCC）的报道，通常避免手术。本报告介绍了一名57岁的DEB患者在下咽癌食管全切除术后进行游离空肠皮瓣重建的第一例。已知诊断为DEB的患者有左手SCC和食管狭窄的食管扩张史。在检查与左侧SCC相关的全身转移瘤期间，PET-CT成像显示下咽异常积聚，活检证实为SCC。行全咽喉食管切除术，然后使用游离空肠皮瓣重建缺损。一段空肠,大约15厘米长，移植了多个血管蒂。患者术后恢复顺利，15个月后能够继续口服摄入，没有并发症，头颈部SCC也没有复发。虽然皮肤SCC在DEB中很常见，皮外SCC相对罕见。在大多数以前的情况下，由于皮肤脆性和多发病率,我们选择了非手术方式联合放疗和化疗.在目前的情况下,未观察到血管脆性和肠道粘膜损伤，可以进行常规的血管和肠吻合，术后过程顺利。我们的研究结果表明，高侵入性手术，包括游离组织移植，如游离空肠皮瓣，可以在DEB患者中进行。
