Primary Cutaneous Amyloidosis

An autosomal dominant type of familial amyloidosis that is characterized by PRURITIS and skin scratching and histologically by the finding of deposits of AMYLOID staining on keratinous debris in the papillary DERMIS. Mutations in the OSMR gene have been identified. OMIM: 105250

Also Known As:

Amyloidosis, Primary Cutaneous; Primary Localized Cutaneous Amyloidosis

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Familial Amyloidosis: 393
      - Primary Cutaneous Amyloidosis: 100
  - Genetic Skin Diseases: 47
    - Primary Cutaneous Amyloidosis: 100
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Genetic Skin Diseases: 47
    - Primary Cutaneous Amyloidosis: 100
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Proteostasis Deficiencies: 1400
    - Amyloidosis: 11630
      - Familial Amyloidosis: 393
        Primary Cutaneous Amyloidosis: 100
  - Inborn Errors Metabolism: 1162
    - Familial Amyloidosis: 393
      - Primary Cutaneous Amyloidosis: 100

H Siegmund Selected Research

H Siegmund Research Topics

Disease

Drug/Important Bio-Agent (IBA)