Rare Endocrinology News

Disease Profile

SAPHO syndrome

Prevalence
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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

Acquired hyperostosis syndrome; Synovitis, Acne, Pustlosis, Hyperostosis, and Osteomyelitis; Synovitis acne pustulosis hyperostosis osteitis

Categories

Musculoskeletal Diseases; Skin Diseases

Summary

SAPHO syndrome involves any combination of: Synovitis (inflammation of the joints), Acne, Pustulosis (thick yellow blisters containing pus) often on the palms and soles, Hyperostosis (increase in bone substance) and Osteitis (inflammation of the bones). The cause of SAPHO syndrome is unknown and treatment is focused on managing symptoms.[1]

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
Neoplasm of the skeletal system
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
Arthritis
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

There is no specific treatment plan for SAPHO syndrome. It can be a chronic condition but sometimes eventually heals on its own. Joint pain may be managed with nonsteroidal anti-inflammatory drugs and prescription vitamin A is used to treat the acne.

Other drugs that may be used include:

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

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

  1. SAPHO syndrome. DermNet NZ. December 29, 2013; https://dermnetnz.org/systemic/sapho.html. Accessed 2/4/2014.

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