Epidermolysis bullosa junctionalis

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Classification according to ICD-10
Q81.8 Other epidermolysis bullosa
ICD-10 online (WHO version 2019)

The junctional epidermolysis bullosa (JEB) is a form of epidermolysis bullosa with gap formation between the epidermis and the dermis at the level of the lamina lucida, a part of the basal membrane .

Synonyms are: EBJ ; Epidermolysis bullosa atrophicans ; JEB

Classification

The classification is currently in the following three main groups:

  • EBJ Herlitz , synonyms: Epidermolysis bullosa junctionalis, Herlitz-Pearson type; JEB-H , more severe form
  • EBJ non-Herlitz , synonyms: Epidermolysis bullosa junctionalis JEB-non-Herlitz; JEB nH
    • circumscribed form
    • generalized form , synonyms: Epidermolysis bullosa atrophicans generalisata mitis; Epidermolysis bullosa, atrophic benign generalized; Epidermolysis bullosa, junctional, Disentis type; GABEB

There are also rare forms of junctional EB:

  • Epidermolysis bullosa junctionalis with pyloric atresia (JEB-PA)
  • Epidermolysis bullosa junctionalis with hypacusis
  • Epidermolysis bullosa dystrophica praetibialis , synonym: DEBD-Pt
  • Epidermolysis bullosa junctionalis inversa , synonyms: REBD-I, EB dystrophica inversa

distribution

The incidence is 1 to 450,000 in the United States or with less than 1 in 1,000,000 and 1 to 260,000 live births in Italy indicated that inheritance occurs autosomal - recessive .

root cause

The disease has mutations in various genes , including a. COL17A1, ITGA6, ITGB4, LAMA3, LAMB3 and LAMC2 .

Clinical manifestations

Common clinical criteria are:

  • Enamel hypoplasia with defects on the tooth surface
  • Healing of the blisters with scars, granulation tissue and nail dystrophy
  • In addition, there can be a congenital lack of skin and progressive hair loss
  • Regular involvement of the mucous membrane

literature

  • E. Sadler, M. Laimer, A. Diem, A. Klausegger, G. Pohla-Gubo, W. Muss, J. Hachleitner, R. Stadlhuber, JW Bauer, H. Hintner: Tooth changes in junctional epidermolysis bullosa - report on a Patient with a mutation in the LAMB3 gene. In: Journal of the German Dermatological Society = Journal of the German Society of Dermatology: JDDG. Vol. 3, No. 5, May 2005, pp. 359-363, PMID 16372803 .

Individual evidence

  1. a b c d Epidermolysis bullosa, junctional. In: Orphanet (Rare Disease Database).
  2. Encyclopedia Dermatology EBD
  3. ^ Encyclopedia-Dermatology Herlitz
  4. ^ Junctional epidermolysis bullosa, Herlitz type.  In: Online Mendelian Inheritance in Man . (English)
  5. Epidermolysis bullosa, junctional, Herlitz type. In: Orphanet (Rare Disease Database).
  6. Encyclopedia Dermatology Non-Herlitz
  7. ^ Junctional epidermolysis bullosa, non-Herlitz type.  In: Online Mendelian Inheritance in Man . (English)
  8. Epidermolysis bullosa, junctional, non-Herlitz type. In: Orphanet (Rare Disease Database).
  9. Epidermolysis bullosa, generalized junctional, non-Herlitz type. In: Orphanet (Rare Disease Database).
  10. JEB-PA
  11. ^ Encyclopedia-Dermatology EBJ with hypacusis
  12. Epidermolysis bullosa dystrophica, pretibial.  In: Online Mendelian Inheritance in Man . (English)
  13. enzyklopaedie-dermatologie.deBD-pt
  14. ^ Encyclopedia-Dermatology EBD inversa
  15. Junctional epidermolysis bullosa with pyloric atresia.  In: Online Mendelian Inheritance in Man . (English)
  16. Epidermolysis bullosa junctionalis inversa. In: Orphanet (Rare Disease Database).
  17. ^ Genetics Home Reference