Epidermolysis bullosa junctionalis
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
- ↑ a b c d Epidermolysis bullosa, junctional. In: Orphanet (Rare Disease Database).
- ↑ Encyclopedia Dermatology EBD
- ^ Encyclopedia-Dermatology Herlitz
- ^ Junctional epidermolysis bullosa, Herlitz type. In: Online Mendelian Inheritance in Man . (English)
- ↑ Epidermolysis bullosa, junctional, Herlitz type. In: Orphanet (Rare Disease Database).
- ↑ Encyclopedia Dermatology Non-Herlitz
- ^ Junctional epidermolysis bullosa, non-Herlitz type. In: Online Mendelian Inheritance in Man . (English)
- ↑ Epidermolysis bullosa, junctional, non-Herlitz type. In: Orphanet (Rare Disease Database).
- ↑ Epidermolysis bullosa, generalized junctional, non-Herlitz type. In: Orphanet (Rare Disease Database).
- ↑ JEB-PA
- ^ Encyclopedia-Dermatology EBJ with hypacusis
- ↑ Epidermolysis bullosa dystrophica, pretibial. In: Online Mendelian Inheritance in Man . (English)
- ↑ enzyklopaedie-dermatologie.deBD-pt
- ^ Encyclopedia-Dermatology EBD inversa
- ↑ Junctional epidermolysis bullosa with pyloric atresia. In: Online Mendelian Inheritance in Man . (English)
- ↑ Epidermolysis bullosa junctionalis inversa. In: Orphanet (Rare Disease Database).
- ^ Genetics Home Reference