Abstract

Epidermolysis bullosa (EB) is a family of hereditary skin disorders resulting from abnormal or absent structural proteins that cause weak or absent connections between the epithelium and underlying layers of the skin and mucosa, which occurs in approximately 20 per 1 million live births. Extreme skin fragility, extracutaneous manifestations such as microstomia and laryngeal stenosis, and little experience accumulated make anesthesia management quite a challenge. Here we report the anesthesia management of the lower limb amputation in an adult patient who is the first EB patient admitted to our department during the past 30 years. The patient went through the peri-anesthesia period without emergency ventilation disorder and new bullous formation after adequate evaluation and careful planning, which may suggest that the patient with EB can safely undergo anesthesia if served meticulously enough even in non- EB specialized institutions.

Keywords: Epidermolysis Bullosa; Airway Management; Mucosal Integrity; Skin Protection

Introduction

Epidermolysis bullosa (EB) is a family of hereditary skin disorders marked by extreme skin fragility，in which mild friction or shear forces on the skin and mucous membranes result in blisters and ulcers. These disorders result from abnormal or absent structural proteins that cause weak or absent connections between the epithelium and underlying layers of the skin and mucosa [1,2]. In addition to blistering and chronic wounds, there are several extra cutaneous manifestations of EB such as microstomia, laryngeal stenosis, cardiomyopathy, esophageal stricture, gastroesophageal reflux, anemia and chronic pain [3]. Common surgical procedures in adult EB patients are esophageal dilation, contracture release, cesarian section and squamous cell carcinoma resection. Both cutaneous and extra cutaneous manifestations pose challenges to anesthesia [4]. Given the rarity of EB that occurs in approximately 20 per 1 million live births [5,6], most medical institutions do not have the opportunity to accumulate experience on anesthesia in such patients. Here we report the experience on anesthesia for the first EB patient admitted to our department during the past 30 years in order to provide reference for medical workers in non- EB specialized institutions. The patient agreed to report his case and signed informed consent.

Case Description

A 37-year-old, 45-kg man with recessive dystrophic epidermolysis bullosa（DEB) was diagnosed with chronic osteomyelitis and squamous cell carcinoma of the left foot after presenting with persistent skin infection. The patient presented to us for amputation of the left lower extremity at the level of the mid-tibia which was his first time undergoing anesthesia and surgery in April 2022. The focus of this case report is the mechanical and physical problems associated with anesthetic administration related to his EB. The special anesthetic considerations are: (1) a thorough preoperative evaluation; (2) maintaining skin and mucosal integrity; (3) airway management; and (4) postoperative analgesia.

Preoperative Evaluation

The mouth opening-inter-incisor distance was 1.8 cm, and the tongue showed a partial fixity in the oral cavity (Mallampati score=4). Electronic laryngoscopy showed scarring of the hypo pharyngeal wall. The computed tomography(CT) and three-dimensional reconstruction of the upper airway showed no signs of obvious stricture. The patient presented with extensive skin blisters and bullous formation on the jaw, neck, back, and buttocks and was affected by mitten deformity (pseudo syndactyly) in the hands and feet. The patient was in poor nutritional status with unclear superficial venous vessels and laboratory findings suggested anemia and hyperproteinaemia. Evaluation of the airway and skin is detailed in Figure 1.