Living with Xanthoma disseminatum
A rare condition that causes yellowish-red or brown bumps on the skin and in the mouth and nose, and sometimes affects organs.
Understanding Xanthoma disseminatum
It can start anywhere from childhood to adulthood. Sometimes it also affects organs and parts of the brain, such as the pituitary gland and hypothalamus, which release hormones. This can cause diabetes insipidus (very high thirst and a lot of urination), trouble swallowing, breathing problems, hoarseness and blurry vision.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Yellowish-red or brown skin bumps
- Diabetes insipidus (extreme thirst, frequent urination)
- Breakdown of bone (osteolysis)
- Bumps in the mouth and nose
- Trouble swallowing or hoarseness
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 autoimmune and inflammatory disease specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); 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
GARD doesn't describe a cause for this condition yet.
Also known as: diffuse xanthoma; disseminated xanthosiderohistiocytosis; montgomery syndrome
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 Xanthoma disseminatum.
Explore research for Xanthoma disseminatum
Explore actively recruiting Xanthoma disseminatum studies with HealthSpark.
Find actively recruiting studies for Xanthoma disseminatum with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Xanthoma disseminatum studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Xanthoma disseminatum
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Xanthoma disseminatum experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.