Pseudoxanthoma Elasticum

Overview

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Is a:

Disease or Syndrome
Congenital Abnormality

Definition:

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.

Synonyms:

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

Broader Topics:

Narrower Topics:

None

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