Lethal junctional epidermolysis bullosa with pyloric atresia due to compound heterozygosity for two novel mutations in the integrin Î²4 gene.

[junctional epidermolysis bullosa]

Junctional epidermolysis bullosa with pyloric atresia (JEB-PA ) is a rare autosomal recessive disease with blister formation within the lamina lucida due to mutations in the integrin Î² 4 (ITGB 4 ) and Î±6 (ITGA 6 ) genes .A female preterm infant , first child of healthy non-consanguineous parents , was born at 26 + 4 weeks of gestation by caesarean section , following polyhydramnion and abruption of placenta . She presented with extensive areas of denuded skin on both lateral sides of the head , neck and extremities . Auricles were hypoplastic . Abdominal ultrasound and X-ray were suggestive of pyloric atresia which was revised surgically on the 4 th day of life . Further course was complicated by progressive skin detachment , sepsis , and renal insufficiency with fatal outcome at 18 days of age . Immunofluorescence mapping of cryopreserved skin showed junctional cleft formation with negative staining for integrin Î±6 and integrin Î² 4 . Mutational analysis disclosed compound heterozygosity for two novel nonsense mutations in the ITGB 4 gene : c .600 dupC /p .F 2 01 fsX 14 and c .2533 C >T /p .Q 845 X . 2 subsequent pregnancies were terminated following prenatal diagnosis disclosing the same ITGB 4 mutations , a 4 th pregnancy was unaffected .We describe a case of lethal JEB-PA with negative immunoreactivity to integrin Î±6 and integrin Î² 4 predicting a poor outcome . Identification of compound heterozygosity for two novel ITGB 4 mutations in the affected preterm infant permitted prenatal diagnosis and finally birth of a healthy sibling .

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junctional epidermolysis bullosa

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