Diseases

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

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Synonyms

12 entry terms
  • Groenblad-Strandberg Syndrome
  • Gronblad-Strandberg Syndrome
  • Pseudoxanthoma Elasticum, Autosomal Dominant
  • Pseudoxanthoma Elasticum, Forme Fruste
  • Pseudoxanthoma Elasticum, Incomplete
  • Elasticum, Incomplete Pseudoxanthoma
  • Elasticums, Incomplete Pseudoxanthoma
  • Gronblad Strandberg Syndrome
  • Incomplete Pseudoxanthoma Elasticum
  • Incomplete Pseudoxanthoma Elasticums
  • Pseudoxanthoma Elasticums, Incomplete
  • Syndrome, Gronblad-Strandberg

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

Indexing Annotation

in titles & translations use diacritic: Grönblad

MeSH Hierarchy

Tree Numbers

AMA Style

References

  1. National Library of Medicine. Pseudoxanthoma Elasticum. Medical Subject Headings (MeSH). 2026. Unique ID D011561. http://id.nlm.nih.gov/mesh/2026/D011561
  2. Pseudoxanthoma Elasticum. In: Wikipedia. https://en.wikipedia.org/wiki/Pseudoxanthoma_elasticum
  3. Pseudoxanthoma Elasticum. In: Wikidata. https://www.wikidata.org/wiki/Q1052391