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Erythromelalgia in Children
What is erythromelalgia?
Erythromelalgia (ur-i-thruh-muh-lal-jah) is a rare chronic pain disorder that can cause severe burning, redness, and pain in the extremities, especially the hands and feet. It can affect people of all ages, but often begins in childhood. There are two main types of erythromelalgia in children and adults:
- Primary erythromelalgia: This type of erythromelalgia isn’t the result of another underlying disease. Some forms of primary erythromelalgia can be inherited through a genetic variant. However, most cases are idiopathic, which means that they have no known cause.
- Secondary erythromelalgia: This type of erythromelalgia results from another underlying condition. These may be autoimmune diseases (such as Sjogren’s syndrome or lupus), blood disorders, and genetic or acquired disorders that affect small nerve fibers (small fiber neuropathy), or diseases where the body is missing an enzyme that prevents accumulation of toxic fatty substances (such as Fabry disease).
Symptoms & Causes
What are the symptoms of erythromelalgia?
Erythromelalgia typically affects the hands and feet, but it can also sometimes occur in other parts of the body, such as the ears or face. It usually affects both sides of the body. Erythromelalgia in children has the same main symptoms as it does in adults. These include:
- Pain: Discomfort ranging from mild tingling to severe burning
- Heat: Increased skin temperature in affected areas
- Redness: Skin-color change called erythema
The pain caused by erythromelalgia usually worsens with heat and improves with cold.
Erythromelalgia may also cause:
- Swelling
- Itching
- Sweating
- Skin cracking, ulcers, or blisters
Symptoms of erythromelalgia may come and go in episodes called flares. These may worsen over time.
What causes erythromelalgia in children?
Erythromelalgia is sometimes caused by a genetic variant and passed down through families. It can also occur along with another underlying condition. However, most cases of erythromelalgia have no known cause. Boston Children’s is conducting research to learn more about the condition, including developing a patient registry, performing research-based gene sequencing, and studying neurobiologic mechanisms.
Although they don’t cause erythromelalgia, certain things can trigger a flare for some people. These include:
- Warm temperatures
- Stress
- Excessive exercise
Diagnosis & Treatments
How is erythromelalgia diagnosed?
If your child’s doctor suspects they might have erythromelalgia, they will perform a physical exam and ask about your child’s medical history. They may also recommend tests to confirm a diagnosis and rule out or rule in other conditions. These can include:
- Blood tests
- Genetic testing
Because erythromelalgia has symptoms that are similar to those of other conditions (such as Raynaud’s phenomenon, peripheral neuropathy, and complex regional pain syndrome) — and because symptoms can come and go — it’s important to see a doctor who has experience diagnosing and treating children with erythromelalgia.
How is erythromelalgia treated in children?
Treatment for erythromelalgia is aimed at helping relieve symptoms. Your child’s doctor will discuss different treatment options, which may include:
- Lifestyle management, including avoidance of triggers, use of moderate cooling but avoiding direct application of ice
- Skin care for prevention and treatment of skin breakdown
- Topical creams and topical medications
- Medications such as low-dose aspirin, sodium channel blockers (such as mexiletine), antihistamines, anticonvulsants, and antidepressants. Although several of these medications are used to treat other conditions, they can also help relieve erythromelalgia symptoms.
- In a small percentage of cases, interventional approaches including nerve blocks may be used.
How we care for children with erythromelalgia at Boston Children’s Hospital
At Boston Children’s, we see children and teens with erythromelalgia in our Pain Treatment Center. We take a state-of-the-art team approach to pain management that encourages children and families as active players in their own care. Our patients receive care from anesthesiologists, neurologists, and pediatricians, in addition to evaluation by a psychologist — who specializes in pain management through cognitive behavioral therapy — and a physical therapist. Our team also conducts research on erythromelalgia, with the goal of learning more about its causes and potential treatments. To learn more about research, please contact our team at ped-emerge@childrens.harvard.edu.
