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Junctional epidermolysis bullosa inversa

MedGen UID:
382142
Concept ID:
C2673609
Disease or Syndrome
Synonym: Epidermolysis bullosa inversa dystrophica
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0019308
Orphanet: ORPHA79405

Definition

A rare intermediate form of junctional epidermolysis bullosa characterized by congenital blistering and erosions confined to intertriginous skin sites, the esophagus, groin, and perineum. Blistering is usually severe and lesions may heal with atrophic scarring and milia formation. Extracutaneous manifestations include nail dystrophy, enamel hypoplasia and dental caries, oral, esophageal and vaginal blisters and erosions. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVJunctional epidermolysis bullosa inversa

Recent clinical studies

Therapy

Gedde-Dahl T Jr, Dupuy BM, Jonassen R, Winberg JO, Anton-Lamprecht I, Olaisen B
Hum Mol Genet 1994 Aug;3(8):1387-91. doi: 10.1093/hmg/3.8.1387. PMID: 7987320

Prognosis

Gedde-Dahl T Jr, Dupuy BM, Jonassen R, Winberg JO, Anton-Lamprecht I, Olaisen B
Hum Mol Genet 1994 Aug;3(8):1387-91. doi: 10.1093/hmg/3.8.1387. PMID: 7987320

Clinical prediction guides

Gedde-Dahl T Jr, Dupuy BM, Jonassen R, Winberg JO, Anton-Lamprecht I, Olaisen B
Hum Mol Genet 1994 Aug;3(8):1387-91. doi: 10.1093/hmg/3.8.1387. PMID: 7987320

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