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Junctional Epidermolysis Bullosa with Pyloric Atresia
Epidermolysis Bullosa, Junctional with Pyloric Atresia

  • ITGB4 (Beta 4 Integrin)
  • ITGA6 (Alpha 6 Integrin)
  • PLEC1 (Plectin)
The junctional forms of epidermolysis bullosa are a clinically and genetically heterogeneous group of severe congenital autosomal recessive blistering disorders. In this clinical subtype, Junctional EB with Pyloric Atresia (JEB-PA), blistering begins in the neonatal period and continues throughout life. Blisters are usually generalized and include oral and esophageal lesions. In addition, pyloric atresia or pyloric stenosis is also present. In some patients, urogenital malformations may also be evident. JEB-PA is often lethal in the newborn period; however, surviving patients may show less severe blistering with age. The tissue separation (blister) occurs within or just above the lamina lucida at the level of the hemidesmosome. Alpha-6/ Beta-4 integrin/ Plectin staining may be reduced or absent. GeneDx suggests that the referring physician contact Beutner Laboratories in Buffalo, NY (716-838-0549) or Peter Marinkovich at Stanford University (650-725-5196) to arrange for immunohistochemical analysis of a skin biopsy from the affected individual. If these studies are consistent with absence or reduction of beta-4 integrin, testing of ITGB4 gene is appropriate. Sequencing of the ITGB4 gene (exons 2-41) is expected to identify mutations in 85% of patients with clinical and histologic features of JEB-PA. A small minority of patients may have mutations in the alpha-6 integrin gene (ITGA6; 5%) or the plectin gene (PLEC1; 15%). GeneDx also offers sequence analysis of the ITGA6 gene (exons 1-26) and the PLEC1 gene (exons 1-32). Please note, JEB-PA testing in most cases is done in the neonatal period. Due to limitations of buccal swabs, a venous blood specimen (1-2 ml in EDTA) is required for infants less than 6 months of age. Cultured cells or skin are also accepted.

Information Sheet, including prices and CPT codes  
Information Sheet (PLEC1), including prices and CPT codes Back to the List
Consent Document  
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options  
Epidermolysis Bullosa, Junctional Epidermolysis Bullosa, Herlitz, Non-Herlitz, Junctional EB, Pyloric atresia, Pyloric stenosis, blister, bullae, bullous, ITGB4, integrin, beta, alpha, ITGA6, plectin, PLEC, JEB-PA

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