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A form of junctional epidermolysis bullosa that is associated with pyloric atresia and often results in death in the first year of life.

Epidermolysis Bullosa Lethalis with Pyloric Atresia; Aplasia Cutis Congenita with Gastrointestinal Atresia.

Approximately 70 cases have been reported. Junctional epidermolysis bullosa accounts for approximately 1% of all epidermolysis bullosa cases.

Autosomal recessive. The genetic defects have been mapped to 17q11-qter and chromosome 2.

In junctional epidermolysis bullosa, blister formation in the plane of the lamina lucida results in separation of the epidermis from the basal lamina. The hemidesmosome content in the lamina lucida of these patients often is significantly reduced in quantity and quality (structural anomalies). The bullae per se heal without superficial scarring; however, erosions provide an easy portal of entry for bacteria, which trigger inflammation and marked fibrosis. Intestinal obstruction can result from separation of the intestinal mucosal layer, which is followed by a secondary inflammatory reaction and fibrosis, causing obliteration of the intestinal lumen. The condition has been postulated to result from a mutation in two of the integrin genes (integrin alpha-6 and integrin beta-4), which appears to affect the integrity of the basement membrane, the hemidesmosomes, and the control of the normal scarring process during wound healing. The sequence of events is initiated by separation of the epidermis or intestinal mucosal layers from the basal lamina. The resulting inflammatory reaction triggers massive fibrosis involving the deep layers of the tissue and leading to damage of skin and obstruction of the intestinal lumen. If aplasia cutis congenita is present, mixed skin lesions with blisters and patchy lack of skin can be seen.

Based on the clinical findings of epidermolysis bullosa or aplasia cutis congenita associated with gastrointestinal signs. Transmission electron microscopy and immunofluorescence mapping can be used to confirm the diagnosis. Elevated amniotic fluid α-fetoprotein levels have been described in some cases.

Polyhydramnios in the last trimester and premature delivery occur frequently. The skin may initially appear normal, but there may already be areas of blistering and skin loss. Bullae form easily in response to minor trauma. In the first year of life, a pathognomonic, chronic perinasal, and/or perioral crusted lesion may appear. One study reported mixed skin lesions, including blisters and a patchy lack of skin, in all affected infants. All skin layers are involved and show marked dystrophic changes. Nails may be either absent or severely dystrophic. Almost all patients have intestinal obstructions, especially membranous pyloric atresia or stenosis. Intestinal obstruction results from proliferative connective tissue changes. Pyloric atresia presents with nonbilious vomiting, which may be projectile. Esophageal atresia has been described. Epidermolysis bullosa-like lesions may affect the respiratory tract and cause acute respiratory failure. Commonly associated anomalies include aplasia cutis congenita (43%) and obstruction at the ureterovesical junction (14%), which may lead to bilateral hydronephrosis. The high mortality of up to 80% in the first year of life is most ...

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