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Generalized junctional epidermolysis bullosa non-Herlitz type

MedGen UID:
609458
•Concept ID:
C0432326
•
Disease or Syndrome
Synonyms: GABEB; generalised atrophic benign epidermolysis bullosa; generalised junctional epidermolysis bullosa, non-Herlitz type; Generalized atrophic benign epidermolysis bullosa; generalized atrophic benign epidermolysis bullosa; Generalized atrophic benign epidermolysis bullosa - GABEB; generalized junctional epidermolysis bullosa non-Herlitz type; Generalized junctional epidermolysis bullosa, non-Herlitz type; generalized junctional epidermolysis bullosa, non-Herlitz type; Intermediate generalized JEB; Intermediate generalized junctional epidermolysis bullosa; JEB, generalised intermediate; JEB, generalized intermediate; JEB-nH gen; Junctional epidermolysis bullosa Disentis type; Junctional epidermolysis bullosa generalisata mitis; junctional epidermolysis bullosa generalisata mitis; Junctional epidermolysis bullosa generalized intermediate; Junctional epidermolysis bullosa mitis; junctional epidermolysis bullosa non-Herlitz type; Junctional epidermolysis bullosa, Disentis type; junctional epidermolysis bullosa, Disentis type; junctional epidermolysis bullosa, generalised intermediate; junctional epidermolysis bullosa, generalized intermediate
SNOMED CT: Generalized atrophic benign epidermolysis bullosa - GABEB (254196004); Junctional epidermolysis bullosa generalized intermediate (254196004); Generalized junctional epidermolysis bullosa non-Herlitz type (254196004); Junctional epidermolysis bullosa Disentis type (254196004); Junctional epidermolysis bullosa mitis (254196004)
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:0019307
Orphanet: ORPHA79402

Definition

A form of junctional epidermolysis bullosa (JEB) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement. [from ORDO]

Term Hierarchy

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

Recent clinical studies

Diagnosis

Identification of a Novel COL17A1 Compound Heterozygous Mutation in a Chinese Girl with Non-Herlitz Junctional Epidermolysis Bullosa.
Yao YY, Zhang Y, Xie XH, Chen L, Zhu F, Zhou M
Curr Med Sci 2020 Aug;40(4):795-800. Epub 2020 Aug 29 doi: 10.1007/s11596-020-2234-9. PMID: 32862392
Dermal eosinophilic infiltrate in junctional epidermolysis bullosa.
Saraiya A, Yang CS, Kim J, Bercovitch L, Robinson-Bostom L, Telang G
J Cutan Pathol 2015 Aug;42(8):559-63. Epub 2015 Jun 4 doi: 10.1111/cup.12521. PMID: 25950805
Bullous pemphigoid in a patient with suspected non-Herlitz junctional epidermolysis bullosa.
Pérez A, Almaani N, Stefanato CM, BhogaL B, Groves RW, Mellerio JE, McGrath JA
Clin Exp Dermatol 2010 Dec;35(8):881-4. doi: 10.1111/j.1365-2230.2010.03828.x. PMID: 20456391
Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy.
Bauer JW, Lanschuetzer C
Clin Exp Dermatol 2003 Jan;28(1):53-60. doi: 10.1046/j.1365-2230.2003.01192.x. PMID: 12558632

Therapy

Bullous pemphigoid in a patient with suspected non-Herlitz junctional epidermolysis bullosa.
Pérez A, Almaani N, Stefanato CM, BhogaL B, Groves RW, Mellerio JE, McGrath JA
Clin Exp Dermatol 2010 Dec;35(8):881-4. doi: 10.1111/j.1365-2230.2010.03828.x. PMID: 20456391

Prognosis

Bullous pemphigoid in a patient with suspected non-Herlitz junctional epidermolysis bullosa.
Pérez A, Almaani N, Stefanato CM, BhogaL B, Groves RW, Mellerio JE, McGrath JA
Clin Exp Dermatol 2010 Dec;35(8):881-4. doi: 10.1111/j.1365-2230.2010.03828.x. PMID: 20456391
Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy.
Bauer JW, Lanschuetzer C
Clin Exp Dermatol 2003 Jan;28(1):53-60. doi: 10.1046/j.1365-2230.2003.01192.x. PMID: 12558632

Clinical prediction guides

Identification of a Novel COL17A1 Compound Heterozygous Mutation in a Chinese Girl with Non-Herlitz Junctional Epidermolysis Bullosa.
Yao YY, Zhang Y, Xie XH, Chen L, Zhu F, Zhou M
Curr Med Sci 2020 Aug;40(4):795-800. Epub 2020 Aug 29 doi: 10.1007/s11596-020-2234-9. PMID: 32862392
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
Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa.
Pasmooij AM, Pas HH, Deviaene FC, Nijenhuis M, Jonkman MF
Am J Hum Genet 2005 Nov;77(5):727-40. Epub 2005 Sep 9 doi: 10.1086/497344. PMID: 16252234Free PMC Article
Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy.
Bauer JW, Lanschuetzer C
Clin Exp Dermatol 2003 Jan;28(1):53-60. doi: 10.1046/j.1365-2230.2003.01192.x. PMID: 12558632

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