SAPHO syndrome is a rare disorder that involves a combination of signs and symptoms affecting the joints, bones, and skin.
People with SAPHO syndrome may experience inflammation of the joints and bones alongside skin conditions, such as acne and blisters.
Keep reading to learn more about SAPHO syndrome, including its symptoms and treatment. We also discuss the outlook for people with this disease.
SAPHO stands for:
- Synovitis (inflammation of the joints)
- Pustulosis (thick, sterile pus-filled blisters, often on the hands or feet)
- Hyperostosis (an increase in bone substance)
- Osteitis (inflammation of the bones)
People with SAPHO syndrome can have any combination of these signs and symptoms.
There is currently no known cause of SAPHO syndrome. The findings of a 2019 study suggest that certain genetic factors may play a part in causing SAPHO syndrome. Mutations in genes, called copy number variations, may have a link to SAPHO syndrome.
The authors of a 2015 review mention theories that the immune system and infections may also play a part in SAPHO syndrome, although there is not enough evidence to support this idea.
More studies are necessary for researchers to understand the cause of SAPHO syndrome.
People with SAPHO syndrome may experience a wide range of symptoms, some of which are more common than others. According to the Genetic and Rare Diseases Information Center (GARD), 80–99% of people with SAPHO syndrome will experience the following:
- joint pain and inflammation of the joints
- bone pain
- chest pain
- craniofacial osteosclerosis, which is a thickening of the bones in the skull and face
- enthesitis, which is inflammation where tendons and ligaments meet the bone
- hyperostosis, an overgrowth of bone
- skeletal tumor
- osteolysis, where the bone breaks down
In addition, 30–79% of people with SAPHO syndrome report:
- abnormality of the sacroiliac joint
- bone infection
- thick blisters on the palms of the hand and soles of the feet
- psoriasiform dermatitis, which is the term for a group of skin conditions that appear similar to psoriasis
The following issues affect 5–29% of people with SAPHO syndrome:
- abdominal pain
- chronic diarrhea
- cranial nerve paralysis
- inflammation of the large intestine
- increased number of fractures
- repeated skin infections
- skin rash
- oily stools
- inflammation of blood vessels
- a blood clot in a vein
Although SAPHO syndrome can be a chronic disorder, it may heal by itself over time.
There is no set treatment specifically for SAPHO syndrome, and treatment will vary depending on a person’s symptoms.
To treat inflammation of the joints, people may take nonsteroidal anti-inflammatory drugs (NSAIDs). If acne appears, a doctor may prescribe vitamin A or other acne medication.
Treatment options may also include medications such as:
- calcitonin (Miacalcin)
- colchicine (Colcrys)
- etanercept (Enbrel)
- infliximab (Remicade)
- methotrexate (Rheumatrex)
- sulfasalazine (Azulfidine)
People may be able to use natural remedies to help treat some of the symptoms of SAPHO.
Increasing the intake of omega-3-rich foods or taking a supplement may help improve acne and inflammation in some people.
A 2014 study looked at the effects of omega-3 or gamma-linoleic acid supplementation on 45 people with mild-to-moderate acne.
In comparison with the control group, both groups taking the supplements had a significant decrease in acne lesions after 10 weeks.
Eating an anti-inflammatory diet may also help reduce inflammation in the body, including around the joints.
A Mediterranean diet is full of foods that can help fight inflammation and manage disease. These foods include:
- oily fish, such as salmon, tuna, and sardines
- nuts and seeds, including walnuts, pine nuts, and pumpkin seeds
- colorful fruits and vegetables
- olive oil
- beans, such as kidney or pinto beans
- whole grains, including brown rice, quinoa, and oatmeal
People living with SAPHO syndrome may need to take long-term action to manage the condition and relieve symptoms.
For example, they can discuss their current medications with their doctor to ensure that they are taking the lowest possible effective dosage. Doing this can help minimize any side effects of certain drugs.
People may also find that a holistic approach can help them manage SAPHO syndrome. Engaging in regular physical activity and performing relaxation exercises alongside any other treatment may help a person manage their symptoms and relieve pain.
According to a 2015 review, most people with SAPHO syndrome will have symptoms that come and go throughout their life. Some people will have relapsing-remitting symptoms, which appear and then seem to improve or disappear before coming back again.
Other people may have chronic indolent symptoms. In these cases, the condition is long lasting, but the symptoms do not cause any pain. In most people, symptoms involving the bones and joints will not worsen.
In some individuals, SAPHO syndrome will heal by itself over time.
SAPHO syndrome is a rare disorder with a wide range of possible symptoms. Some common symptoms include blisters, acne, and inflammation of the joints and bones.
There is no set treatment for SAPHO syndrome, and the options will depend on the symptoms that people are experiencing.
A doctor may prescribe anti-inflammatory medication to treat inflammation in the body. Specific medication for skin disorders may help with skin-related symptoms.
In some cases, SAPHO syndrome can heal by itself over time. In other cases, people may need to manage the condition throughout their life.