Epidermolysis Bullosa Dystrophica

Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.

Also Known As:

Dystrophic Epidermolysis Bullosa; Epidermolysis Bullosa Dystrophica, Dominant; Cockayne-Touraine Type Epidermolysis Bullosa; Dystrophic Epidermolysis Bullosa, Autosomal Recessive; Epidermolysis Bullosa Dystrophica, Autosomal Recessive; Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type; Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens Type; Epidermolysis Bullosa Dystrophica, Recessive; Bullosa Dystrophica, Epidermolysis; Bullosa Dystrophicas, Epidermolysis; Bullosa, Dystrophic Epidermolysis; Bullosas, Dystrophic Epidermolysis; Cockayne Touraine Disease; Cockayne Touraine Type Epidermolysis Bullosa; Dystrophic Epidermolysis Bullosas; Dystrophica, Epidermolysis Bullosa; Dystrophicas, Epidermolysis Bullosa; Epidermolysis Bullosa Dystrophica, Cockayne Touraine Type; Epidermolysis Bullosa Dystrophica, Hallopeau Siemens Type; Epidermolysis Bullosa Dystrophicas; Epidermolysis Bullosas, Dystrophic; Hallopeau Siemens Disease; Cockayne-Touraine Disease; Epidermolysis Bullosa, Dystrophic; Hallopeau-Siemens Disease

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Skin Abnormalities: 159
    - Epidermolysis Bullosa: 770
      - Epidermolysis Bullosa Dystrophica: 751
- Inborn Genetic Diseases: 12342
  - Genetic Skin Diseases: 51
    - Epidermolysis Bullosa: 770
      - Epidermolysis Bullosa Dystrophica: 751
Skin and Connective Tissue Diseases
- Skin Diseases: 13402
  - Vesiculobullous Skin Diseases: 410
    - Epidermolysis Bullosa: 770
      - Epidermolysis Bullosa Dystrophica: 751
  - Skin Abnormalities: 159
    - Epidermolysis Bullosa: 770
      - Epidermolysis Bullosa Dystrophica: 751
  - Genetic Skin Diseases: 51
    - Epidermolysis Bullosa: 770
      - Epidermolysis Bullosa Dystrophica: 751
- Connective Tissue Diseases: 3325
  - Collagen Diseases: 755
    - Epidermolysis Bullosa Dystrophica: 751

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