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Autosomal dominant epidermolysis bullosa simplex

MedGen UID:
541297
•Concept ID:
C0268375
•
Disease or Syndrome
Synonym: EBS 1
SNOMED CT: Autosomal dominant epidermolysis bullosa simplex (398170002); EBS 1 (398170002)

Professional guidelines

PubMed

Inherited epidermolysis bullosa: new diagnostic criteria and classification.
Intong LR, Murrell DF
Clin Dermatol 2012 Jan-Feb;30(1):70-7. doi: 10.1016/j.clindermatol.2011.03.012. PMID: 22137229
Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database.
McLean WH, Smith FJ, Cassidy AJ
J Investig Dermatol Symp Proc 2005 Oct;10(1):31-6. doi: 10.1111/j.1087-0024.2005.10205.x. PMID: 16250207
Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
Sørensen CB, Ladekjaer-Mikkelsen AS, Andresen BS, Brandrup F, Veien NK, Buus SK, Anton-Lamprecht I, Kruse TA, Jensen PK, Eiberg H, Bolund L, Gregersen N
J Invest Dermatol 1999 Feb;112(2):184-90. doi: 10.1046/j.1523-1747.1999.00495.x. PMID: 9989794

Recent clinical studies

Therapy

Kinase Inhibition by PKC412 Prevents Epithelial Sheet Damage in Autosomal Dominant Epidermolysis Bullosa Simplex through Keratin and Cell Contact Stabilization.
Rietscher K, Jahnke HG, Rübsam M, Lin EW, Has C, Omary MB, Niessen CM, Magin TM
J Invest Dermatol 2022 Dec;142(12):3282-3293. Epub 2022 Jun 9 doi: 10.1016/j.jid.2022.05.1088. PMID: 35691363

Clinical prediction guides

Allele-Specific Inactivation of an Autosomal Dominant Epidermolysis Bullosa Simplex Mutation Using CRISPR-Cas9.
Bchetnia M, Dionne Gagné R, Powell J, Morin C, McCuaig C, Dupérée A, Germain L, Tremblay JP, Laprise C
CRISPR J 2022 Aug;5(4):586-597. Epub 2022 Jul 21 doi: 10.1089/crispr.2021.0132. PMID: 35862015
A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.
Humphries MM, Sheils DM, Farrar GJ, Kumar-Singh R, Kenna PF, Mansergh FC, Jordan SA, Young M, Humphries P
Hum Mutat 1993;2(1):37-42. doi: 10.1002/humu.1380020107. PMID: 7682883

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