Junctional Epidermolysis Bullosa

Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterized by generalized blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane.

Also Known As:

Epidermolysis Bullosa Letalis; Epidermolysis Bullosa, Junctional; Epidermolysis Bullosa Junctionalis, Disentis Type; Epidermolysis Bullosa Junctionalis, Herlitz Type; Epidermolysis Bullosa Junctionalis, Progressive; Epidermolysis Bullosa Junctionalis, Severe Nonlethal; Epidermolysis Bullosa Progressiva; Epidermolysis Bullosa, Generalized Atrophic Benign; Epidermolysis Bullosa, Junctional, Herlitz Type; Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type; Herlitz's Disease; Herlitz-Pearson Type Epidermolysis Bullosa; Herlitz-Pearson-Type Epidermolysis Bullosa; Bullosa Letali, Epidermolysis; Bullosa Letalis, Epidermolysis; Bullosa, Herlitz-Pearson-Type Epidermolysis; Disease, Herlitz; Disease, Herlitz's; Epidermolysis Bullosa Letali; Epidermolysis Bullosa, Herlitz-Pearson-Type; Herlitz Pearson Type Epidermolysis Bullosa; Herlitzs Disease; Letali, Epidermolysis Bullosa; Letalis, Epidermolysis Bullosa; Herlitz Disease; Lethal Junctional Epidermolysis Bullosa

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Skin Abnormalities: 159
    - Epidermolysis Bullosa: 770
      - Junctional Epidermolysis Bullosa: 252
- Inborn Genetic Diseases: 12342
  - Genetic Skin Diseases: 51
    - Epidermolysis Bullosa: 770
      - Junctional Epidermolysis Bullosa: 252
Skin and Connective Tissue Diseases
- Skin Diseases: 13402
  - Vesiculobullous Skin Diseases: 410
    - Epidermolysis Bullosa: 770
      - Junctional Epidermolysis Bullosa: 252
  - Skin Abnormalities: 159
    - Epidermolysis Bullosa: 770
      - Junctional Epidermolysis Bullosa: 252
  - Genetic Skin Diseases: 51
    - Epidermolysis Bullosa: 770
      - Junctional Epidermolysis Bullosa: 252

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