Pseudoxanthoma elasticum

Orpha code: 758OMIM code: 264800

Definition

A rare, genetic, metabolic disease with connective tissue and eye involvement, characterized by progressive ectopic mineralization and fragmented elastic fibers in the skin, retina and vascular walls.

Disease data
Classification

Disease

Synonyms
Gronblad-Strandberg-Touraine syndrome
PXE
Zespół Gronblada, Strandberga i Touraine'a
PXE
ORPHA code
758
OMIM code
264800
ICD10 code
Q82.8
ICD11 code
EC40

No additional description.

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