Epidermolysis Bullosa of the Esophagus

Abstract

EPIDERMOLYSIS bullosa is a rare chronic hereditary disease of the skin and mucous membranes characterized by development of bullae following slight trauma. Newcomber et al1 described two main forms of the disease: simplex and dystrophic, the latter occurring in both dominant and recessive forms. This disease may involve internal organs lined with squamous epithelium as well as the skin. Esophageal changes have been described only in the recessive dystrophic form. To our knowledge only 19 children with the dystrophic form of epidermolysis bullosa have been reported, and none of these reports have appeared in the pediatric literature.2-5 The purpose of this report is to describe this complication in two siblings. Report of CasesCase 1.\p=m-\A 14-year-old white boy was the product of an uncomplicated pregnancy and delivery with a birth weight of 3,175 gm (7 lb). At birth he was denuded of epithelium distal to the knees, and had bullae on the oral mucosa, lips, and one hand. Since that time, he has had vesicles and bullae appear over various areas of the body which ruptured and eventually scarred. The child perspired normally. Various local ther¬ apies have been applied to the lesions; and oc¬ casionally when infection was present, systemic antibiotics were utilized. By the age of 5, he be¬ gan to gradually develop syndactyly of the fingers and toes with flexion contractures at the metacarpophalangeal and interphalangeal joints of the hands. Surgical release and grafting of flexion contractures of the right hand were per¬ formed at age 11 with subsequent recurrence of syndactyly and contractures. At the age of 13, progressive dysphagia developed. Family history revealed that his younger sister (case 2) also had this disease.Physical examination upon his most recent admission revealed fine, sparse hair, absence of nails, syndactyly of all digits, flexion contractures of metacarpophalangeal and interphalangeal joints of the hands, and severe dental caries. He had all stages of skin lesions (bullae, de¬ nuded areas, and atrophie scars). Cineesophagram was done (Fig 1).Case 2.-An 11-year-old white girl was the product of an uncomplicated pregnancy and de¬ livery with a birth weight of 3,402 gm (7 lb 8 ounces). Small areas denuded of epithelium were present on one hand and both knees at birth. By 1 month of age, she developed typical bullous lesions following slight trauma. By the age of 5 years, she began developing syndactyly of the digits of the hands and feet. This was followed by contractures of metacarpophalangeal and in¬ terphalangeal joints of the hands. She had no dysphagia, but had one episode of blood-streaked vomitus at the age of 10 years.Physical examination at that time revealed absence of nails, syndactyly of all digits, flexion contractures of metacarpophalangeal joints of hands, and moderately severe dental caries. She also demonstrated all stages of the typical skin lesions. Cine-esophagram was done (Fig 2). CommentTrauma to the esophageal mucosa by rough or hot foods produces bullae by causing separati...

Epidermolysis bullosa of the oesophagus with oesophageal web formation

“…It may be due to pain from areas denuded of mucosa, or from oesophageal spasm or stricture (Dupree, Hodges, and Simon, 1969). Severe dysphagia occurred in two of our patients but has remained comparatively mild in the others.…”

Epidermolysis bullosa: radiographic findings in 16 cases

“…The pharynx and esophagus are frequently involved because of their exposure to minor trauma [2]. All 1 6 patients in our series had pharyngeal or esophageal strictures.…”

“…Short segmental stenoses or webs were also seen [2,4,5] (Fig. 1) Musculoskeletal changes elsewhere include diffuseosteopenia relatedto chronic immobilizationand to the poor nutritionalstate.…”

“…All 1 6 patients in our series had pharyngeal or esophageal strictures. Esophageal abnormalities occur at sites of relative stasis (aortic knob, canna, gastroesophageal junction) and in areas subject to peptic esophagitis [2,3]. Mucosal trauma results in formation of bullae in which the epithelial layer is separated from the lamina propria.…”

“…Mucosal trauma results in formation of bullae in which the epithelial layer is separated from the lamina propria. When the lesions heal with scarring, segmental stenoses result.Esophageal strictureshave been reported [2,4,5] inthe upper thirdof the esophagus in 50% of patients and in the lower third in 25%; they are multiple in 25% of cases. Eight (50%) of the 16 esophageal strictures in our series occurred in the proximal third, and five (31%) had multiple strictures.…”