Pseudoxanthoma Elasticum

An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE.

Also Known As:

Gronblad Strandberg Syndrome; Groenblad-Strandberg Syndrome; Pseudoxanthoma Elasticum, Autosomal Dominant; Pseudoxanthoma Elasticum, Forme Fruste; Pseudoxanthoma Elasticum, Incomplete; Elasticum, Incomplete Pseudoxanthoma; Elasticums, Incomplete Pseudoxanthoma; Incomplete Pseudoxanthoma Elasticum; Incomplete Pseudoxanthoma Elasticums; Pseudoxanthoma Elasticums, Incomplete; Syndrome, Gronblad-Strandberg; Gronblad-Strandberg Syndrome

Cardiovascular Diseases: 91362
- Vascular Diseases: 15138
  - Hemostatic Disorders: 250
    - Pseudoxanthoma Elasticum: 421
Hemic and Lymphatic Diseases: 6
- Hematologic Diseases: 3366
  - Hemorrhagic Disorders: 702
    - Hemostatic Disorders: 250
      - Pseudoxanthoma Elasticum: 421
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Skin Abnormalities: 159
    - Pseudoxanthoma Elasticum: 421
- Inborn Genetic Diseases: 11939
  - Genetic Skin Diseases: 47
    - Pseudoxanthoma Elasticum: 421
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Skin Abnormalities: 159
    - Pseudoxanthoma Elasticum: 421
  - Genetic Skin Diseases: 47
    - Pseudoxanthoma Elasticum: 421
- Connective Tissue Diseases: 3269
  - Pseudoxanthoma Elasticum: 421

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