Junctional epidermolysis bullosa (medicine)
|Junctional epidermolysis bullosa (medicine)|
|Classification and external resources|
|ICD-10||Q81.8 (ILDS Q81.850)|
|OMIM||226700 226650 226730|
|226730||Junctional epidermolysis bullosa with pyloric atresia||17q11-qter, 2q31.1||ITGB4, ITGA6|
|226700||Junctional epidermolysis bullosa, Herlitz type||18q11.2, 1q32, 1q25-q31||LAMA3, LAMB3, LAMC2|
|226650||epidermolysis bullosa, junctional, non-Herlitz types (Generalized atrophic benign epidermolysis bullosa, Mitis junctional epidermolysis bullosa)||18q11.2, 1q32, 17q11-qter, 1q25-q31, 10q24.3||LAMA3, LAMB3, LAMC2, COL17A1, ITGB4|
Junctional epidermolysis bullosa with pyloric atresia
Junctional epidermolysis bullosa with pyloric atresia is a rare autosomal recessive form of junctional epidermolysis bullosa that presents at birth with severe mucocutaneous fragility and gastric outlet obstruction.:557 It can be associated with ITGB4 or ITGA6.
Junctional epidermolysis bullosa gravis (also known as "Herlitz disease," "Herlitz syndrome," and "Lethal junctional epidermolysis bullosa") is the most lethal type of epidermolysis bullosa, a skin condition in which most patients do not survive infancy, characterized by blistering at birth with severe and clinically distinctive perorificial granulation tissue.:599:557
JEB-H is generally caused by mutations in one of the three laminin-332 coding genes: LAMA3 (18q11.2), LAMB3 (1q32) and LAMC2 (1q25-q31).
- Generalized atrophic benign epidermolysis bullosa is a skin condition that is characterized by onset at birth, generalized blisters and atrophy, mucosal involvement, and thickened, dystrophic, or absent nails.:600:557
- Mitis junctional epidermolysis bullosa (also known as "Nonlethal junctional epidermolysis bullosa") is a skin condition characterized by scalp and nail lesions, also associated with periorificial nonhealing erosions.:599 Mitis junctional epidermolysis bullosa is most commonly seen in children between the ages of 4 and 10 years old.:600
- Cicatricial junctional epidermolysis bullosa is a skin condition characterized by blisters that heal with scarring.:557 It was characterized in 1985.
α6β4 integrin is a transmembrane protein found in hemidesmosomes. As a heterodimer molecule containing two polypeptide chains its extracellular domain enters the basal lamina and interacts with type IV collagen suprastructure containing laminins (laminin-5), entactin/nidongen or the perlecan. on the extracellular surface of the hemidesmosome, laminin-5 molecules form threadlike anchoring filaments that extend from the integrin molecules to the structure of the basement membrane of epithelial adhesion. Mutation of the genes encoding laminin-5 chains results in junctional epidermolysis bullosa.
- Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- Online Mendelian Inheritance in Man (OMIM) 226730
- Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
- Haber RM, Hanna W, Ramsay CA, Boxall LB (May 1985). "Cicatricial junctional epidermolysis bullosa". J. Am. Acad. Dermatol. 12 (5 Pt 1): 836–44. doi:10.1016/S0190-9622(85)70105-3. PMID 4008687.
- Histology A Text And Atlas by Michael H. Ross