Overview
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa is an extremely rare genetic condition that combines two main problems: skin changes that look like a disease called pseudoxanthoma elasticum (PXE) and a progressive eye condition called retinitis pigmentosa (RP). The skin changes include yellowish, small bumps and loose, sagging skin, especially in areas like the neck, armpits, and groin. These changes happen because the elastic fibers in the skin become damaged and calcified, making the skin look aged or wrinkled. At the same time, retinitis pigmentosa causes a gradual loss of vision. It starts with difficulty seeing in dim light (night blindness) and a narrowing of the visual field (tunnel vision), and can eventually lead to significant vision loss over time. This condition is distinct from classic pseudoxanthoma elasticum, which is caused by mutations in the ABCC6 gene. Instead, this combined syndrome has been linked to other genetic causes. Because it is so rare, treatment is mainly supportive and focused on managing symptoms. There is no cure at this time. Eye care to slow vision loss and skin care to manage the cosmetic effects are the main approaches. Regular monitoring by both eye specialists and dermatologists is important to track how the disease progresses and to address complications as they arise.
Also known as:
Key symptoms:
Yellowish bumps on the skin, especially on the neck, armpits, and groinLoose, sagging, or wrinkled skinNight blindness or difficulty seeing in low lightTunnel vision or narrowing of the visual fieldProgressive vision lossSkin that looks prematurely agedCalcification of elastic fibers in the skinPossible angioid streaks in the back of the eyeSkin laxity in flexural areas (skin folds)Gradual loss of peripheral vision
Clinical phenotype terms (11)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa.
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Specialists
View all specialists →No specialists are currently listed for Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa.
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Caregiver Resources
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the current status of my vision, and how quickly might it change?,Are there any treatments or clinical trials that could slow my vision loss?,How often should I have eye exams and skin evaluations?,Should my family members be tested for this condition?,What low-vision aids or assistive devices would you recommend for me?,Are there any lifestyle changes that could help protect my skin or eyes?,Can you refer me to a genetic counselor to discuss family planning?
Common questions about Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
What is Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa?
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa is an extremely rare genetic condition that combines two main problems: skin changes that look like a disease called pseudoxanthoma elasticum (PXE) and a progressive eye condition called retinitis pigmentosa (RP). The skin changes include yellowish, small bumps and loose, sagging skin, especially in areas like the neck, armpits, and groin. These changes happen because the elastic fibers in the skin become damaged and calcified, making the skin look aged or wrinkled. At the same time, retinitis pigmentosa causes a gradu
How is Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa inherited?
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.