Junctional epidermolysis bullosa (medicine)

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Junctional epidermolysis bullosa (medicine)
Classification and external resources
ICD-10 Q81.8 (ILDS Q81.850)
ICD-9 757.39
OMIM 226700 226650 226730
DiseasesDB 29579
MeSH D016109
GeneReviews

Junctional epidermolysis bullosa is a skin condition characterized by blister formation within the lamina lucida of the basement membrane zone.[1]:599

Classification[edit]

OMIM Name Locus Gene
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[edit]

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.[2]:557 It can be associated with ITGB4 or ITGA6.[3]

Herlitz type[edit]

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.[2]:557[1]:599[4]

Non-Herlitz type[edit]

These include:

  • 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.[2]:557[1]:600
  • 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.[1]:599 Mitis junctional epidermolysis bullosa is most commonly seem in children between the ages of 4 and 10 years old.[1]:600
  • Cicatricial junctional epidermolysis bullosa is a skin condition characterized by blisters that heal with scarring.[2]:557 It was characterized in 1985.[5]

Pathophysiology[edit]

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.[6]

See also[edit]

References[edit]

  1. ^ a b c d e Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  2. ^ a b c d James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  3. ^ Online 'Mendelian Inheritance in Man' (OMIM) 226730
  4. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 
  5. ^ 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. 
  6. ^ Histology A Text And Atlas by Michael H. Ross

External links[edit]