Living with Lipid proteinosis
A rare inherited condition in which protein deposits build up in the skin and mucous membranes, often causing a hoarse voice.
Understanding Lipid proteinosis
The clumps appear in the skin, upper airway, and the moist linings of the mouth and eyelids. The first sign is usually a hoarse voice, or a weak cry in infancy. Tiny bead-like bumps along the eyelash line are characteristic. Skin and mucous membranes can be fragile in children.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hoarse voice
- Bead-like bumps along the eyelids
- Skin blistering
- Changes in the lining of the mouth and gums
- Firm lumps under the skin
- Acne-like scars
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 genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in ECM1 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
- 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
It is caused by changes in the ECM1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: hyalinosis cutis et mucosae; lipoid proteinosis; lipoid proteinosis of urbach and wiethe; lipoidosis cutis et mucosae; lipoproteinosis; urbach wiethe disease
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 Lipid proteinosis.
Explore research for Lipid proteinosis
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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