Living with Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
A rare genetic condition with yellowish skin bumps, loose skin, and night and side vision loss.
Understanding Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
It causes yellowish bumps on the neck, chest, or skin folds, along with loose, sagging skin on the trunk and upper limbs. It also causes retinitis pigmentosa, a gradual eye disease, with reduced night and side vision. Clotting is normal. GARD lists onset from childhood to adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loose, sagging skin (cutis laxa)
- Yellowish skin bumps
- Night blindness
- Retinal rod-cone dystrophy
- Crossed eyes (strabismus)
- Narrowed blood vessels in the back of the eye
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
Specialists who may be involved include eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in GGCX are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- 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 Children's Skin Disease Foundation
- 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
This condition is caused by changes in the GGCX gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: pxe-like (pseudoxanthoma elasticum-like) syndrome with retinitis pigmentosa; pxe-like syndrome with retinitis pigmentosa
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa.
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