SUMMARY Seven patients with epidermolysis bullosa dystrophica and chronic and recurrent oesophageal lesions such as spasm, strictures, and complete occlusion were studied. Dysphagia could be cured with drugs if it was caused by bullae formation or spasm. If oesophageal strictures were present, endoscopy and bouginage with corticosteroid prophylaxis during the quiescent phase of the disease was a safe and useful procedure. We have also given corticosteroids, which reduced the oedema caused by bullae formation and oral phenytoin, which reduced epithelial detachment by inhibiting collagenase activity. Verapamil counteracted oesophageal spasm and pureed food during periods of dysphagia reduced blistering of the upper oesophagus.Epidermolysis bullosa dystrophica is a group of hereditary mechanobullous disorders affecting both the skin and gastrointestinal mucosa (table). In the recessive type, trauma is followed by a separation of skin at the dermoepidermal junction and at the lamina propria of the mucous membrane, probably because of an increase in mutant collagenase activity.1 The recessive type can be further subdivided into two forms, localised and generalised, on the electron microscopic appearance of the dermoepidermal junction in non-blistered skin. In the localised form there are recognisable anchoring fibrils below the basement membrane, but they are attenuated in appearance and sparse. In the generalised form (which is clinically more severe) the anchoring fibrils are absent.2In the recessive type the bullous lesions of the skin are usually present at birth and they quickly spread to affect the skin and mouth. Healing is slow, with chronic scarring that leads to digital fusion (syndactyly) and flexion contractures of the fingers and toes. The mucosa of the mouth, pharynx, and oesophagus is often affected. Oesophageal problems develop insidiously and are caused by bullae formation, ulceration, and oedema, which ultimately lead to stricture formation that may in turn cause complete oesophageal obstruction with regurgitation of blood stained secretions. In the dominant form of epidermolysis bullosa dystrophica the skin disease is milder, but patients may develop tight webs in the upper oesophagus. These develop several years later than in the recessive type.
A child aged 13 months suffering frcm epidermolysis bullosa developed an upper oesophageal stricture. This required oesophagoscopy and dilatation. Anaesthesia was induced using oxygen and halothane, blown initially over the face, and then into a modified head box. Tracheal intubation was carried out using a P.V.c. tube without the aid of muscle relaxants.
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