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Junctional epidermolysis bullosa (medicine)

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Specialty
  
medical genetics

ICD-9-CM
  
757.39

DiseasesDB
  
29579

ICD-10
  
Q81.8 (ILDS Q81.850)

OMIM
  
226700 226650 226730

MeSH
  
D016109

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

Contents

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. It can be associated with ITGB4 or ITGA6.

Herlitz type

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.

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).

Non-Herlitz type

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.
  • 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. Mitis junctional epidermolysis bullosa is most commonly seen in children between the ages of 4 and 10 years old.
  • Cicatricial junctional epidermolysis bullosa is a skin condition characterized by blisters that heal with scarring. It was characterized in 1985.
  • Pathophysiology

    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.

    References

    Junctional epidermolysis bullosa (medicine) Wikipedia


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