Epidermolysis bullosa simplex

Definition:

Inherited epidermolysis bullosa is a diverse group of disorders that encompass dozens of clinically and genotypically distinct diseases. It is characterized by mechanically fragile skin that readily blister. The simplex forms of epidermolysis bullosa (EBS) demonstrate blister formation within the basal keratinocytes due to the mutations in the basal keratin genes, KRT5 and KRT14.

References:

[1]. Dharshini Sathishkumar, et al. The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex. J Invest Dermatol. 2016 Mar;136(3):719-721. [Content Brief]

[2]. Hassan Vahidnezhad, et al. KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family. J Invest Dermatol. 2016 Sep;136(9):1897-1901. [Content Brief]

[3]. Jo-David Fine, et al. Inherited epidermolysis bullosa: past, present, and future. Ann N Y Acad Sci. 2010 Apr;1194:213-22. [Content Brief]

[4]. Jo-David Fine, et al. Inherited epidermolysis bullosa: recent basic and clinical advances. Curr Opin Pediatr. 2010 Aug;22(4):453-8. [Content Brief]

[5]. John A McGrath, et al. Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility. Am J Hum Genet. 2012 Dec 7;91(6):1115-21. [Content Brief]

[6]. Katarzyna B Gostyńska, et al. Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex. Hum Mol Genet. 2015 Jun 1;24(11):3155-62. [Content Brief]

[7]. Richard W Groves, et al. A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. J Invest Dermatol. 2010 Jun;130(6):1551-7. [Content Brief]

[8]. Vanja Karamatic Crew, et al. CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin. Blood. 2004 Oct 15;104(8):2217-23. [Content Brief]

[9]. Zhimiao Lin, et al. Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. Nat Genet. 2016 Dec;48(12):1508-1516. [Content Brief]

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