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Localized junctional epidermolysis bullosa, non-Herlitz type

MedGen UID:
1814511
•Concept ID:
C5700116
•
Disease or Syndrome
Synonyms: JEB-nH loc; Junctional epidermolysis bullosa, non-Herlitz localized type; Localized JEB; Localized junctional epidermolysis bullosa; Localized junctional epidermolysis bullosa non-Herlitz type; localized junctional epidermolysis bullosa, non-Herlitz type; Localized non-Herlitz junctional epidermolysis bullosa
SNOMED CT: Localized non-Herlitz junctional epidermolysis bullosa (1254890002); Localized junctional epidermolysis bullosa non-Herlitz type (1254890002)
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).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016673
Orphanet: ORPHA251393

Definition

A form of junctional epidermolysis bullosa characterized by neonatal onset of localized blistering, and dystrophic or absent nails. Skin blistering is mainly confined to hands, feet, lower legs and face. Additional findings may include dental enamel hypoplasia and an increased incidence of caries. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLocalized junctional epidermolysis bullosa, non-Herlitz type

Recent clinical studies

Diagnosis

A disease-associated glycine substitution in BP180 (type XVII collagen) leads to a local destabilization of the major collagen triple helix.
Olague-Marchan M, Twining SS, Hacker MK, McGrath JA, Diaz LA, Giudice GJ
Matrix Biol 2000 Jul;19(3):223-33. doi: 10.1016/s0945-053x(00)00070-6. PMID: 10936447

Therapy

A disease-associated glycine substitution in BP180 (type XVII collagen) leads to a local destabilization of the major collagen triple helix.
Olague-Marchan M, Twining SS, Hacker MK, McGrath JA, Diaz LA, Giudice GJ
Matrix Biol 2000 Jul;19(3):223-33. doi: 10.1016/s0945-053x(00)00070-6. PMID: 10936447

Clinical prediction guides

Natural gene therapy may occur in all patients with generalized non-Herlitz junctional epidermolysis bullosa with COL17A1 mutations.
Pasmooij AM, Nijenhuis M, Brander R, Jonkman MF
J Invest Dermatol 2012 May;132(5):1374-83. Epub 2012 Feb 9 doi: 10.1038/jid.2011.477. PMID: 22318390

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