Living with Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive
A rare inherited condition (otulipenia) with body-wide inflammation, fevers, joint swelling, and skin rashes starting in early infancy.
Understanding Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive
Inflammation can affect the gut, joints, and skin. Signs usually begin in the first few weeks of life, with repeated fevers, diarrhea, painful swollen joints, and skin rashes. The rashes are painful red bumps from inflamed fat under the skin (panniculitis). Some people have an unusual distribution of body fat (lipodystrophy), and infants may grow slowly.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated fevers
- Diarrhea and belly pain
- Painful, swollen joints
- Skin rash and painful red bumps (panniculitis)
- Poor growth and weight gain in infancy
- Unusual body fat distribution (lipodystrophy)
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 genetic specialists.
- 3Consider genetic testing
Changes in OTULIN 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)
- 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 rare disease patient organizations for support
- 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 says changes in the OTULIN gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: aipds; aipdsb; autoinflammation, panniculitis and dermatosis syndrome; autoinflammation, panniculitis, and dermatosis syndrome; infantile-onset periodic fever-panniculitis-dermatosis syndrome; infantile-onset periodic fever, panniculitis, dermatosis syndrome
Patient organizations
Rare-disease groups that can help
- 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 Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive.
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