Reconstruction with free jejunal flap in dystrophic epidermolysis bullosa complicated with hypopharyngeal cancer: A case report.

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.

Urological surgery in epidermolysis bullosa: tactical planning for surgery and anesthesia

Epidermolysis bullosa (EB) is characterized by extreme fragility of the skin and mucosae. Anesthetic and surgical techniques have to be adapted to those children and routine practice may not be adequate. Urological problems are relatively common, but surgical techniques adapted to those children have not been well debated and only low evidence is available to this moment. Herein we discuss the specifics of anesthetic and surgical techniques chosen to treat a six year old EB male presenting with symptomatic phimosis.

Epidermólise bolhosa distrófica: aspectos dermatológicos e cirúrgicos / Dystrophic epidermolysis bullosa: dermatological and surgical aspects

A epidermólise bolhosa é uma doença hereditária que causa alterações em proteínas estruturais da pele e consequente fragilidade da epiderme. Manifesta-se por surgimento de flictenas por todo o corpo e deformidades funcionais de membros, especialmente nas mãos, sendo que as formas mais características são pseudossindactilia e contraturas. Neste trabalho, descrevemos o caso de um paciente de 12 anos com deformidades nas mãos e flictenas pelo corpo que foi submetido à cirurgia da mão para recuperação da movimentação funcional (AU)

Epidermolysis bullosa is a hereditary disease that causes changes in structural proteins of the skin and consequent fragility of the epidermis. It is manifested by the appearance of blisters all over the body and functional deformities of limbs, especially the hands, and the most characteristic forms are pseudosyndactyly and contractures. In this paper, we describe the case of a 12-year-old patient with deformities in his hands and blisters over the body who underwent hand surgery for recovery of functional movement (AU)