Epidermolysis Bullosa Simplex

Watchlist

(log in to enable)

Retrieved

2021-01-18

Source

Wikipedia

Trials

—

Genes

KRT5, KRT14, EXPH5, DST, PLEC, ITGB4, NAT9, COL17A1, KLHL24, KRT1, VIM, TNF, MMP9, PLOD3, MAPK8, TGM5, CPSF4, ACTB, KRT10, KRT17, KRT9, IVL, CXCL8, IL6, IL2, HSP90AA1, GFAP, FN1, DES, BHLHE23

Drugs

Allantoin, Allogeneic adipose-derived adult mesenchymal stem cells contained in a fibrin-based bioengineered dermis, Allogeneic human dermal fibroblasts

Allantoin, Allogeneic adipose-derived adult mesenchymal stem cells contained in a fibrin-based bioengineered dermis, Allogeneic human dermal fibroblasts, Allogeneic skin-derived ABCB5-positive mesenchymal stem cells, Bilayer engineered skin composed of keratinocytes (patient autologous) and fibroblasts (donor allogeneic) in a plasma matrix, Diacerein, Dry extract from Betulae cortex (birch bark), Ex-vivo-expanded autologous fibroblasts transduced with lentiviral vector containing the COL7A1 gene, Ex-vivo-expanded autologous keratinocytes transduced with retroviral vector containing the COL7A1 gene, Human dermal fibroblasts cultured on a bioresorbable polyglactin mesh, Losartan, ex-vivo-expanded autologous human keratinocytes containing epidermal stem cells transduced with a COL7A1-encoding retroviral vector, genetically modified replication-incompetent herpes simplex virus-1 expressing collagen VII

Interested in hearing about new therapies?

Epidermolysis bullosa simplex (EBS), is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.^:598

Blister formation of EBS occurs at the dermoepidermal junction. Sometimes EBS is called epidermolytic.

Cause

Absence of keratin-5,14 since birth.

Diagnosis

Classification

Epidermolysis bullosa simplex may be divided into multiple types:

Type	Locus & Gene	OMIM
Epidermolysis bullosa simplex with migratory circinate erythema	12q13 (KRT5)	609352
Epidermolysis bullosa simplex with mottled pigmentation. Associated with a recurrent mutation in KRT14.^:557	12q13 (KRT5)	131960
Epidermolysis bullosa simplex, autosomal recessive	17q12-q21 (KRT14)	601001
Generalized epidermolysis bullosa simplex Also known as "Koebner variant of generalized epidermolysis bullosa simplex", presents at birth to early infancy with a predilection for the hands, feet, and extremities, and palmar-plantar hyperkeratosis and erosions may be present.^:598^:556	17q12-q21 (KRT5), 12q13 (KRT14)	131900
Localized epidermolysis bullosa simplex Also known as "Weber–Cockayne syndrome",^:460 and "Weber–Cockayne variant of generalized epidermolysis bullosa simplex", is characterized by onset in childhood or later in life, and is the most common variant of epidermolysis bullosa simplex.^:598^:557	17q12-q21 (KRT5), 17q11-qter, 12q13 (KRT14)	131800
Epidermolysis bullosa herpetiformis Also known as "Dowling-Meara epidermolysis bullosa simplex", presents at birth with a generalized distribution, often with oral mucosa involvement and variable lesions in infancy.^:598^:557	17q12-q21 (KRT5), 12q13 (KRT14)	131760
Epidermolysis bullosa simplex with muscular dystrophy A rare clinical entity, and is the only epidermolytic epidermolysis bullosa described that is not caused by a keratin mutation, presenting as a generalized intraepidermal blistering similar to the Koebner variant of generalized epidermolysis bullosa simplex, but also associated with adult onset muscular dystrophy.^:598^:557	8q24 (PLEC1)	226670
Epidermolysis bullosa simplex with pyloric atresia	8q24 (PLEC1)	612138
Epidermolysis bullosa simplex of Ogna Has onset in infancy, presenting with seasonal blistering on acral areas during summer months.^:598^:557	8q24 (PLEC1)	131950

Management

No cure for EB
Treat symptoms
Protect skin, stop blister formation, promote healing
Prevent complications
Necessary treatment: use oral and topical steroid for healing and prevent complication
Maintain cool environment, avoid overheating and decreases friction

Epidermolysis Bullosa Simplex

Cause

Diagnosis

Classification

Management

See also