[Erythromelalgia: skin redness and pain].

Area of Science:

• Neurology
• Genetics
• Dermatology

Background:

• Erythromelalgia is a rare disorder.
• It can be associated with hemato-oncological diseases, toxins, or occur independently due to genetic mutations.
• Mutations in the sodium channel Na_V1.7 are a known cause.

Purpose of the Study:

• To describe the clinical presentation, diagnosis, and management of Erythromelalgia.
• To highlight the role of Na_V1.7 gene mutations.
• To differentiate Erythromelalgia from other conditions.

Main Methods:

• Clinical diagnosis based on characteristic symptoms.
• Genetic testing for Na_V1.7 mutations.
• Differential diagnosis evaluation.

Main Results:

• Erythromelalgia presents with burning pain, redness, and relief with cooling.
• Attacks are triggered by heat, exertion, and stress.
• Genetic testing can confirm Na_V1.7 channelopathy.

Conclusions:

• Erythromelalgia requires a multidisciplinary therapeutic approach.
• Treatment should be individualized, including physical therapy, psychotherapy, and pharmacotherapy.
• Distinguishing from complex regional pain syndrome and small fiber neuropathies is crucial.