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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

Excerpted from the GeneReview: Junctional Epidermolysis Bullosa
Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. Blistering may be severe and granulation tissue can form on the skin around the oral and nasal cavities, fingers and toes, and internally around the upper airway. Blisters generally heal with no significant scarring. Broad classification of JEB includes JEB generalized severe and JEB generalized intermediate. In JEB generalized severe, blisters are present at birth or become apparent in the neonatal period. Congenital malformations of the urinary tract and bladder may also occur. In JEB generalized intermediate, the phenotype may be mild with blistering localized to hands, feet, knees, and elbows with or without renal or ureteral involvement. Some individuals never blister after the newborn period. Additional features shared by JEB and the other major forms of epidermolysis bullosa (EB) include congenital localized absence of skin (aplasia cutis congenita), milia, nail dystrophy, scarring alopecia, hypotrichosis, pseudosyndactyly, and other contractures.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Ellen G Pfendner
Anne W Lucky
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Available tests

42 tests are in the database for this condition.

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Clinical tests (42 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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