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Disease Profile
SAPHO syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Adolescent
ICD-10
M86.3
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Acquired hyperostosis syndrome; Synovitis, Acne, Pustlosis, Hyperostosis, and Osteomyelitis; Synovitis acne pustulosis hyperostosis osteitis
Categories
Musculoskeletal Diseases; Skin Diseases
Summary
SAPHO
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal thorax morphology |
Abnormality of the chest
|
0000765 |
Arthralgia |
Joint pain
|
0002829 |
Bone pain | 0002653 | |
Chest pain | 0100749 | |
Craniofacial osteosclerosis | 0005464 | |
Enthesitis | 0100686 | |
Hyperostosis |
Bone overgrowth
|
0100774 |
Skeletal tumor
|
0010622 | |
Osteolysis |
Breakdown of bone
|
0002797 |
Synovitis | 0100769 | |
30%-79% of people have these symptoms | ||
Abnormality of the sacroiliac joint | 0100781 | |
Acne | 0001061 | |
Joint inflammation
|
0001369 | |
Edema |
Fluid retention
Water retention
[ more ] |
0000969 |
Osteomyelitis |
Bone infection
|
0002754 |
Palmoplantar pustulosis | 0100847 | |
Psoriasiform dermatitis | 0003765 | |
5%-29% of people have these symptoms | ||
Abdominal pain |
Pain in stomach
Stomach pain
[ more ] |
0002027 |
Chronic diarrhea | 0002028 | |
Cranial nerve paralysis | 0006824 | |
Inflammation of the large intestine | 0002037 | |
Recurrent fractures |
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ] |
0002757 |
Recurrent skin infections |
Skin infections, recurrent
|
0001581 |
Skin rash | 0000988 | |
Steatorrhea |
Fat in feces
|
0002570 |
Vasculitis |
Inflammation of blood vessel
|
0002633 |
Venous thrombosis |
Blood clot in vein
|
0004936 |
Treatment
Other drugs that may be used include:
- Colchicine
- Topical corticosteroids
- Systemic corticosteroids
- Methotrexate
- Calcitonin
- Bisphosphonates
- Infliximab
- Etanercept.[1]
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnosis includes infectious osteomyelitis or arthritis, Langerhans cell histiocytosis, and bone tumors such as Ewing sarcoma, osteoblastoma, and osteoid osteoma. Hypophosphatasia may mimic the bone phenotype of SAPHO syndrome.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Social Networking Websites
- Visit the following Facebook groups related to SAPHO syndrome:
SAPHO Syndrome Support
Sapho syndrome
SAPHO Syndrome UK
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss SAPHO syndrome. Click on the link to view a sample search on this topic.
References
- SAPHO syndrome. DermNet NZ. December 29, 2013; https://dermnetnz.org/systemic/sapho.html. Accessed 2/4/2014.
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