Erythromelalgia
Última actualización 18 Aug 2020
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Erythromelalgia is a condition characterised by episodes of pain, redness, and swelling in various parts of the body, particularly the hands and feet. These episodes are usually triggered by increased body temperature, which may be caused by exercise or entering a warm room. Ingesting alcohol or spicy foods may also trigger an episode. Wearing warm socks, tight shoes, or gloves can cause a pain episode so debilitating that it can impede everyday activities such as wearing shoes and walking. Pain episodes can prevent an affected person from going to school or work regularly.
Descripción
Erythromelalgia is a condition characterised by episodes of pain, redness, and swelling in various parts of the body, particularly the hands and feet. These episodes are usually triggered by increased body temperature, which may be caused by exercise or entering a warm room. Ingesting alcohol or spicy foods may also trigger an episode. Wearing warm socks, tight shoes, or gloves can cause a pain episode so debilitating that it can impede everyday activities such as wearing shoes and walking. Pain episodes can prevent an affected person from going to school or work regularly.
The signs and symptoms of erythromelalgia typically begin in childhood, although mildly affected individuals may have their first pain episode later in life. As individuals with erythromelalgia get older and the disease progresses, the hands and feet may be constantly red, and the affected areas can extend from the hands to the arms, shoulders, and face, and from the feet to the entire legs.
Erythromelalgia is often considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
Erythermalgia
Familial erythromelalgia
Primary erythromelalgia
Lecturas adicionales y referencias
- Erythromelalgia; MedlinePlus, National Library of Medicine.
- Cregg R, Laguda B, Werdehausen R, Cox JJ, Linley JE, Ramirez JD, Bodi I, Markiewicz M, Howell KJ, Chen YC, Agnew K, Houlden H, Lunn MP, Bennett DL, Wood JN, Kinali M. Novel mutations mapping to the fourth sodium channel domain of Nav1.7 result in variable clinical manifestations of primary erythromelalgia. Neuromolecular Med. 2013 Jun;15(2):265-78. doi: 10.1007/s12017-012-8216-8. Epub 2013 Jan 6.
- Dib-Hajj SD, Cummins TR, Black JA, Waxman SG. From genes to pain: Na v 1.7 and human pain disorders. Trends Neurosci. 2007 Nov;30(11):555-63. doi: 10.1016/j.tins.2007.08.004. Epub 2007 Oct 22.
- Dib-Hajj SD, Cummins TR, Black JA, Waxman SG. Sodium channels in normal and pathological pain. Annu Rev Neurosci. 2010;33:325-47. doi: 10.1146/annurev-neuro-060909-153234.
- Drenth JP, te Morsche RH, Guillet G, Taieb A, Kirby RL, Jansen JB. SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels. J Invest Dermatol. 2005 Jun;124(6):1333-8. doi: 10.1111/j.0022-202X.2005.23737.x.
- Emery EC, Habib AM, Cox JJ, Nicholas AK, Gribble FM, Woods CG, Reimann F. Novel SCN9A mutations underlying extreme pain phenotypes: unexpected electrophysiological and clinical phenotype correlations. J Neurosci. 2015 May 20;35(20):7674-81. doi: 10.1523/JNEUROSCI.3935-14.2015.
- Estacion M, Han C, Choi JS, Hoeijmakers JG, Lauria G, Drenth JP, Gerrits MM, Dib-Hajj SD, Faber CG, Merkies IS, Waxman SG. Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7. Mol Pain. 2011 Dec 2;7:92. doi: 10.1186/1744-8069-7-92.
- Han C, Dib-Hajj SD, Lin Z, Li Y, Eastman EM, Tyrrell L, Cao X, Yang Y, Waxman SG. Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation. Brain. 2009 Jul;132(Pt 7):1711-22. doi: 10.1093/brain/awp078. Epub 2009 Apr 15.
- Waxman SG, Dib-Hajj S. Erythermalgia: molecular basis for an inherited pain syndrome. Trends Mol Med. 2005 Dec;11(12):555-62. doi: 10.1016/j.molmed.2005.10.004. Epub 2005 Nov 8.
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