What are the other Names for this Condition? (Also known as/Synonyms)

• RB-FBMUS

What is RELA Associated Familial Behçets-like Mucocutaneous Ulceration Syndrome? (Definition/Background Information)

• RELA-Associated Familial Behçets-like Mucocutaneous Ulceration Syndrome (RA-FBMUS) is a rare genetic disorder characterized by recurrent oral and genital ulcers, as well as skin rashes. The disorder primarily affects children and young adults
• The disorder is caused by a genetic mutation in the RELA gene, which leads to the over-production of certain inflammatory proteins. Having a family history of the disorder or a genetic mutation in the RELA gene may increase the risk for developing RELA Associated Familial Behçets-like Mucocutaneous Ulceration Syndrome
• The signs and symptoms of RELA-Associated Familial Behçets-like Mucocutaneous Ulceration Syndrome may include recurrent ulcers in the mouth and genitalia, rashes on the skin, and inflammation of the eyes and joints, along with fever, fatigue, and weight loss. A diagnosis of the condition may be made based on one’s symptoms, physical examination, laboratory test results, and genetic testing
• Treatments for the condition may include non-steroidal anti-inflammatory drugs, corticosteroids, immunosuppressants, and biologic therapy, as well as antiviral medications to prevent or treat secondary infections. In case of complications, RA-FBMUS may cause scarring, chronic pain, joint damage, and growth delays
• The prognosis for individuals with RELA-Associated Familial Behçets-like Mucocutaneous Ulceration Syndrome varies depending on the severity of the disorder and the effectiveness of treatment. With prompt management, long-term joint damage and other complications may be prevented

Who gets RELA Associated Familial Behçets-like Mucocutaneous Ulceration Syndrome? (Age and Sex Distribution)

• RELA Associated Familial Behçets-like Mucocutaneous Ulceration Syndrome is a rare disorder that primarily affects children and young adults; it can occur in older adults too
• The disorder is more common in males than females
• Because of the recent discovery of this genetic condition, the ethnic distribution and frequency are not yet known

What are the Risk Factors for RELA Associated Familial Behçets-like Mucocutaneous Ulceration Syndrome? (Predisposing Factors)

The main risk factor for developing RELA Associated Familial Behçets-like Mucocutaneous Ulceration Syndrome (RA-FBMUS) include:

• Having a family history of RA-FBMUS
• Genetic mutation in the RELA gene

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others. 

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of RELA Associated Familial Behçets-like Mucocutaneous Ulceration Syndrome? (Etiology)

• RELA Associated Familial Behçets-like Mucocutaneous Ulceration Syndrome (RA-FBMUS) is caused by a genetic mutation in the RELA gene, which leads to the over-production of certain inflammatory proteins
• At least one report of a member of RA-FBMUS also had neuromyelitis optica (NMO or Devic’s disease), an autoinflammatory disease confined to the central nervous system. The NF-(kappa)B inflammatory system is involved in NMO as well as many forms of Behcet’s disease 

What are the Signs and Symptoms of RELA Associated Familial Behçets-like Mucocutaneous Ulceration Syndrome?

The signs and symptoms of RELA Associated Familial Behçets-like Mucocutaneous Ulceration Syndrome may include:

• Recurrent oral and genital ulcers
• Skin rashes
• Inflammation of the eyes and joints
• Fever
• Fatigue
• Weight loss

How is RELA Associated Familial Behçets-like Mucocutaneous Ulceration Syndrome Diagnosed?

RELA Associated Familial Behçets-like Mucocutaneous Ulceration Syndrome is diagnosed by a pediatric rheumatologist or pediatrician based on the individual’s symptoms, physical examination, laboratory test results, and genetic testing.

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of RELA Associated Familial Behçets-like Mucocutaneous Ulceration Syndrome?

Complications of RELA Associated Familial Behçets-like Mucocutaneous Ulceration Syndrome may include:

• Joint damage
• Growth delay
• Chronic pain

In some cases, the ulcers can cause scarring and can be disfiguring.

How is RELA Associated Familial Behçets-like Mucocutaneous Ulceration Syndrome Treated?

The treatment for RELA Associated Familial Behçets-like Mucocutaneous Ulceration Syndrome may include: 

• Non-steroidal anti-inflammatory drugs (NSAIDs)
• Corticosteroids
• Immunosuppressants
• Biologic therapy
• Antiviral medications to prevent or treat secondary infections

How can RELA Associated Familial Behçets-like Mucocutaneous Ulceration Syndrome be Prevented?

• As the exact cause of RELA Associated Familial Behçets-like Mucocutaneous Ulceration Syndrome is not known, the disorder may not be prevented
• However, genetic counseling may be recommended for individuals with a family history of the disorder

What is the Prognosis of RELA Associated Familial Behçets-like Mucocutaneous Ulceration Syndrome? (Outcomes/Resolutions)

• The prognosis for individuals with RELA Associated Familial Behçets-like Mucocutaneous Ulceration Syndrome varies depending on the severity of the disorder and the effectiveness of treatment
• With early diagnosis and treatment, most individuals can manage their symptoms and prevent long-term joint damage and other complications

Additional and Relevant Useful Information for RELA Associated Familial Behçets-like Mucocutaneous Ulceration Syndrome:

The following link is a useful resource for information on Behcet’s syndrome:

https://www.dovemed.com/diseases-conditions/behcets-syndrome/