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Generalized epidermolysis bullosa simplex

MedGen UID:
86897
•Concept ID:
C0079299
•
Congenital Abnormality
Synonyms: EBS, Generalized; EBSs, Generalized; Epidermolysis Bullosa Simplex Kobner; Epidermolysis Bullosa Simplex, Generalized; Epidermolysis Bullosa Simplex, Koebner Type; Generalized EBS; Generalized EBSs
SNOMED CT: Koebner epidermolysis bullosa (90496008); Generalized epidermolysis bullosa simplex (90496008); Kobner disease (90496008); Epidermolysis bullosa simplex, Kobner type (90496008)

Definition

Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Köbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction. [from ORPHANET]

Professional guidelines

PubMed

Practical considerations relevant to treatment with the gene therapy beremagene geperpavec-svdt for dystrophic epidermolysis bullosa.
Paller AS, Guide SV, Ayala D, Gonzalez ME, Lucky AW, Bagci IS, Marinkovich MP
J Dermatolog Treat 2024 Dec;35(1):2350232. Epub 2024 May 9 doi: 10.1080/09546634.2024.2350232. PMID: 38724041
Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.
Chen F, Wei R, Deng D, Zhang X, Cao Y, Pan C, Wang Y, Cao Q, Wang J, Zeng M, Huang L, Gu Y, Yao Z, Li M
J Eur Acad Dermatol Venereol 2023 Feb;37(2):411-419. Epub 2022 Nov 5 doi: 10.1111/jdv.18692. PMID: 36287101
Eye Involvement and Management in Inherited Epidermolysis Bullosa.
Bachir Y, Daruich A, Marie C, Robert MP, Bremond-Gignac D
Drugs 2022 Aug;82(12):1277-1285. Epub 2022 Sep 8 doi: 10.1007/s40265-022-01770-8. PMID: 36074321

Recent clinical studies

Etiology

Eruptive large melanocytic nevus in a patient with hereditary epidermolysis bullosa simplex.
Stavrianeas NG, Katoulis AC, Moussatou V, Bozi E, Petropoulou H, Limas C, Georgala S
Dermatology 2003;207(4):402-4. doi: 10.1159/000074124. PMID: 14657636
Gelatinase expression in generalized epidermolysis bullosa simplex fibroblasts.
Winberg JO, Gedde-Dahl T
J Invest Dermatol 1986 Sep;87(3):326-9. doi: 10.1111/1523-1747.ep12524396. PMID: 3016106

Clinical prediction guides

Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex.
Corden LD, Mellerio JE, Gratian MJ, Eady RA, Harper JI, Lacour M, Magee G, Lane EB, McGrath JA, McLean WH
Hum Mutat 1998;11(4):279-85. doi: 10.1002/(SICI)1098-1004(1998)11:4<279::AID-HUMU5>3.0.CO;2-E. PMID: 9554744

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