Overview
Lipoid proteinosis, also known as Urbach-Wiethe disease or hyalinosis cutis et mucosae, is a rare inherited condition caused by a buildup of a waxy, protein-like material (called hyaline material) in the skin, mucous membranes, and internal organs. This buildup happens because the body cannot properly produce a protein called extracellular matrix protein 1 (ECM1), which is important for keeping tissues healthy and strong. The disease affects many parts of the body. The most noticeable signs include a hoarse or raspy voice from birth (because the vocal cords become thickened), rough or bumpy skin, and small yellowish bumps along the eyelids called moniliform blepharosis. The skin can become thickened, scarred, or pitted, especially on the face, hands, and elbows. Inside the mouth and throat, the lining can become stiff, making it harder to open the mouth wide or swallow. In some people, calcium deposits form in a part of the brain called the amygdala, which can lead to seizures, memory problems, or changes in behavior and emotions. There is currently no cure for lipoid proteinosis. Treatment focuses on managing symptoms. Doctors may use laser therapy or dermabrasion to improve skin appearance, and seizures can be managed with anti-epileptic medications. The condition is slowly progressive but most people have a near-normal life expectancy. Early diagnosis and regular monitoring by a team of specialists can greatly improve quality of life.
Also known as:
Key symptoms:
Hoarse or raspy voice from birth or early infancyThickened, rough, or scarred skinSmall yellowish bumps along the edges of the eyelids (moniliform blepharosis)Pitted or acne-like scars on the faceThickening of the tongue, making it stiff or difficult to moveDifficulty opening the mouth wideTrouble swallowing in some casesSeizures (epilepsy)Memory problems or difficulty learningChanges in mood, behavior, or emotional responsesCalcium deposits in the brain (especially the amygdala)Hair loss on the scalp or eyelashesDental problems including delayed or abnormal tooth developmentSkin that blisters or wounds easily in childhood
Clinical phenotype terms (23)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Lipoid proteinosis.
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Specialists
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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 Lipoid proteinosis.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 genetic testing should my family members have, and what does it mean if they are carriers?,How often should I have brain imaging to check for calcium deposits, and what symptoms should prompt me to seek urgent care?,What are the best treatment options for my skin symptoms, and are there any clinical trials I could join?,How can I manage my voice and swallowing difficulties, and should I see a speech therapist?,What signs of airway narrowing should I watch for, and when would that need urgent treatment?,Are there any neuropsychological effects I should be aware of, and how can I get support for memory or behavioral changes?,What is the long-term outlook for my specific symptoms, and how will the disease likely progress over time?
Common questions about Lipoid proteinosis
What is Lipoid proteinosis?
Lipoid proteinosis, also known as Urbach-Wiethe disease or hyalinosis cutis et mucosae, is a rare inherited condition caused by a buildup of a waxy, protein-like material (called hyaline material) in the skin, mucous membranes, and internal organs. This buildup happens because the body cannot properly produce a protein called extracellular matrix protein 1 (ECM1), which is important for keeping tissues healthy and strong. The disease affects many parts of the body. The most noticeable signs include a hoarse or raspy voice from birth (because the vocal cords become thickened), rough or bumpy s
How is Lipoid proteinosis inherited?
Lipoid proteinosis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Lipoid proteinosis typically begin?
Typical onset of Lipoid proteinosis is neonatal. Age of onset can vary across affected individuals.