++
A 14-year-old adolescent girl with a history of dystrophic epidermolysis bullosa (DEB) presents to the operating room for surgical correction of pseudosyndactyly of her right hand.
++
The patient was diagnosed with DEB shortly after birth. She has had repeated episodes of blister formation that have resulted in scarring and fusion of the fingers, leading to pseudosyndactyly, has contractures of the arms and legs, and periods of dysphagia that have required esophageal dilations in the past. She currently has no dysphagia. Her medications include minocycline 100 mg po BID, and prednisone 10 mg po QD.
++
On physical examination, the patient is notably anxious. Her vital signs are: blood pressure (BP) 105/65 mm Hg, heart rate (HR) 95 beats per minute, respiratory rate (RR) 16 breaths per minutes. She weighs 85 lb (38.6 kg) and is 5 ft (152.4 cm) tall. Her BMI is 16.6 kg·m−2. Cardiac and pulmonary examinations are normal. She has contractures of both the upper and lower extremities, and several erosions on the extensor surfaces of her legs.
++
Airway examination reveals a small mouth with limited opening due to perioral scarring. Despite being unable to protrude her tongue, she has a Mallampati II Classification. She has full dentition which is in poor condition. Thyromental distance is normal (5 cm). Neck extension is significantly limited due to scaring around the neck.
++
Laboratory data reveal normal electrolytes and renal function. Her hematocrit is 32% and albumin is 3.0 g/dL. Echocardiogram was normal.
++
The patient was consulted regarding the use of regional anesthesia, but she adamantly refused.
+++
41.2.1 What Is Epidermolysis Bullosa?
++
Epidermolysis bullosa (EB) is a group of hereditary mechanobullous diseases that were first described in 1879 by Fox.1 The primary pathophysiologic abnormality is thought to be due to either: (1) mutations in the gene coding for type VII collagen with disturbances in the anchoring fibrils in stratified squamous epithelium; or (2) an increase in collagenase activity causing breakdown of the periepidermal-dermal junction of the skin and mucous membranes.2-4 There are more than 20 types of EB, each transmitted by various modes of autosomal inheritance, with three main subtypes: simplex, junctional, and dystrophic. The exact layer of skin injury, and resultant degree of severity, is dependent on the disease type. Diagnosis of EB is made early in the life of a child and can be lethal in infancy with some types of EB, but most survive until the third or fourth decade of life.5,6
++
The type of EB most relevant to the practice of anesthesiology is dystrophic epidermolysis bullosa (DEB) of the autosomal recessive type. The incidence is 1 in 300,000 live births.4 The focus of injury is at the dermo-epidermal junction, below the level of the lamina densa. Injury at this level heals in the form of scarring, where chronic repeated injury ...