Living with Inherited pseudoxanthoma elasticum
A progressive condition in which minerals build up in stretchy tissue of the skin, eyes, and blood vessels.
Understanding Inherited pseudoxanthoma elasticum
The buildup can affect the skin, eyes, and blood vessels, and less often other areas such as the digestive tract. People may have yellowish bumps on the neck, underarms, and other skin folds. Eye changes can include "peau d'orange" in the retina and angioid streaks.
Signs & symptoms
GARD doesn't list a symptom list for this condition. Its summary describes:
- Yellowish bumps (papules) on the neck, underarms, and skin folds
- Eye changes in the retina (peau d'orange)
- Angioid streaks in the eye
- Mineral buildup in blood vessels
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Coalition for Heritable Disorders of Connective Tissue and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD describes mineral buildup in elastic fibers as the basic problem. It doesn't list a specific gene or inheritance pattern in this record.
Also known as: inherited gronblad strandberg syndrome; inherited pxe
Patient organizations
- Coalition for Heritable Disorders of Connective TissueInherited pseudoxanthoma elasticum · United States
- PXE InternationalInherited pseudoxanthoma elasticum · United States
You are more than your diagnosis
Perspectives from people navigating life with Inherited pseudoxanthoma elasticum.
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