Living with Sterile multifocal osteomyelitis with periostitis and pustulosis
An inherited inflammation condition that begins in infancy with a pimple-like rash, bone pain, and swollen joints.
Understanding Sterile multifocal osteomyelitis with periostitis and pustulosis
In autoinflammatory diseases, the immune system causes inflammation without an infection. People have body-wide inflammation, a rash with pimple-like bumps (pustules), and bone pain. Bone inflammation (osteitis) and swelling of the tissue covering the bone (periostitis) occur without infection. Signs may begin in the newborn or infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Skin rash with pimple-like bumps
- Bone inflammation and pain
- Swollen joints
- Slow weight gain in infancy
- Thin or weak bones
- Delayed motor skills
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, allergy and immune system specialists, bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in IL1RN are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Allergy and immune system specialists (allergists / immunologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- 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 Immune Deficiency Foundation and other patient organizations
- 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
Changes in the IL1RN gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: autoinflammatory disease due to interleukin-1 receptor antagonist deficiency; chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis; deficiency of the interleukin-1 receptor antagonist; dira; interleukin 1 receptor antagonist deficiency; interleukin-1 receptor antagonist deficiency
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Sterile multifocal osteomyelitis with periostitis and pustulosis.
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