Living with Proteosome-associated autoinflammatory syndrome
A rare genetic condition that causes skin rashes, fevers, and joint and muscle problems from early in life.
Understanding Proteosome-associated autoinflammatory syndrome
It brings early skin bumps and rashes, repeated fevers, and changes in body fat. Joints and muscles can be affected, with tight joints, joint pain, and muscle weakness. The liver and spleen may be enlarged.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes these features:
- Red bumps or nodules on the skin
- Fever that comes and goes
- Loss of healthy body fat (lipodystrophy)
- Tight joints and joint pain
- Muscle weakness
- Enlarged liver and spleen
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, genetic specialists, hormone specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in PSMB8 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
- autoimmune and inflammatory disease specialists (rheumatologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); 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 PSMB8 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: aldd; aldd syndrome; autoinflammation-lipodystrophy-dermatosis syndrome; autoinflammation, lipodystrophy and dermatosis syndrome; autoinflammation, lipodystrophy, and dermatosis syndrome; candle 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 Proteosome-associated autoinflammatory syndrome.
Explore research for Proteosome-associated autoinflammatory syndrome
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