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GTR Home > Conditions/Phenotypes > Junctional epidermolysis bullosa with pyloric atresia

Junctional epidermolysis bullosa with pyloric atresia

Synonyms
APLASIA CUTIS CONGENITA WITH GASTROINTESTINAL ATRESIA; CARMI SYNDROME; EB-PA-ACC; EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA; Epidermolysis bullosa junctionalis with pyloric atresia; Epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita; ITGA6-Related Epidermolysis Bullosa with Pyloric Atresia; ITGB4-Related Epidermolysis Bullosa with Pyloric Atresia
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Epidermolysis bullosa with pyloric atresia (EB-PA) is characterized by fragility of the skin and mucous membranes, manifested by blistering with little or no trauma; congenital pyloric atresia; and ureteral and renal anomalies (dysplastic/multicystic kidney, hydronephrosis/hydroureter, ureterocele, duplicated renal collecting system, absent bladder). The course of EB-PA is usually severe and often lethal in the neonatal period. Most affected children succumb as neonates; those who survive may have severe blistering with formation of granulation tissue on the skin around the mouth, nose, fingers, and toes, and internally around the trachea. However, some affected individuals have little or no blistering later in life. Additional features shared by EB-PA and the other major forms of EB include congenital localized absence of skin (aplasia cutis congenita) affecting the extremities and/or head, milia, nail dystrophy, scarring alopecia, hypotrichosis, contractures, and dilated cardiomyopathy. [from GeneReviews]

Available tests

41 tests are in the database for this condition.

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Clinical tests (41 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CD104, GP150, JEB5A, JEB5B, ITGB4
    Summary: integrin subunit beta 4

  • Also known as: EBS1, EBS5A, EBS5B, EBS5C, EBS5D, EBSMD, EBSND, EBSO, EBSOG, EBSPA, HD1, LGMD2Q, LGMDR17, PCN, PLEC1, PLEC1b, PLTN, PLEC
    Summary: plectin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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