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Erythromelalgia

MedGen UID:
8687
Concept ID:
C0014804
Disease or Syndrome
Synonyms: Erythermalgia; Erythermalgias; Erythromelalgias
SNOMED CT: Erythromelalgia (37151006); Weir Mitchell's disease (37151006); Erythralgia (37151006); Erythermalgia (37151006)
 
HPO: HP:0032147
Monarch Initiative: MONDO:0016028

Definition

Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVErythromelalgia
Follow this link to review classifications for Erythromelalgia in Orphanet.

Conditions with this feature

Primary erythromelalgia
MedGen UID:
8688
Concept ID:
C0014805
Disease or Syndrome
SCN9A neuropathic pain syndromes (SCN9A-NPS) comprise SCN9A erythromelalgia (EM), SCN9A paroxysmal extreme pain disorder (PEPD), and SCN9A small fiber neuropathy (SFN). SCN9A-EM is characterized by recurrent episodes of bilateral intense, burning pain, and redness, warmth, and occasionally swelling. While the feet are more commonly affected than the hands, in severely affected individuals the legs, arms, face, and/or ears may be involved. SCN9A-PEPD is characterized by neonatal or infantile onset of autonomic manifestations that can include skin flushing, harlequin (patchy or asymmetric) color change, tonic non-epileptic attacks (stiffening), and syncope with bradycardia. Later manifestations are episodes of excruciating deep burning rectal, ocular, or submandibular pain accompanied by flushing (erythematous skin changes). SCN9A-SFN is characterized by adult-onset neuropathic pain in a stocking and glove distribution, often with a burning quality; autonomic manifestations such as dry eyes, mouth, orthostatic dizziness, palpitations, bowel or bladder disturbances; and preservation of large nerve fiber functions (normal strength, tendon reflexes, and vibration sense).

Professional guidelines

PubMed

Caldito EG, Caldito NG, Kaul S, Piette W, Mehta S
J Am Acad Dermatol 2024 Mar;90(3):465-474. Epub 2023 Jun 24 doi: 10.1016/j.jaad.2023.02.070. PMID: 37364616
Ma JE, Lee JUJ, Sartori-Valinotti JC, Rooke TW, Sandroni P, Davis MDP
Mayo Clin Proc 2023 Jan;98(1):136-149. Epub 2022 Dec 2 doi: 10.1016/j.mayocp.2022.08.005. PMID: 36470753
Khalil S, Kurban M, Abbas O
J Am Acad Dermatol 2022 Sep;87(3):614-622. Epub 2020 Jun 1 doi: 10.1016/j.jaad.2020.05.113. PMID: 32497688

Recent clinical studies

Etiology

Fealey RD
Handb Clin Neurol 2018;157:777-787. doi: 10.1016/B978-0-444-64074-1.00048-3. PMID: 30459040
Klein-Weigel PF, Volz TS, Richter JG
Vasa 2018 Feb;47(2):91-97. Epub 2018 Jan 4 doi: 10.1024/0301-1526/a000675. PMID: 29299961
Linnemann B, Erbe M
Vasa 2015 May;44(3):166-77. doi: 10.1024/0301-1526/a000426. PMID: 26098320
Bennett DL, Woods CG
Lancet Neurol 2014 Jun;13(6):587-99. Epub 2014 May 6 doi: 10.1016/S1474-4422(14)70024-9. PMID: 24813307
Brière JB
Orphanet J Rare Dis 2007 Jan 8;2:3. doi: 10.1186/1750-1172-2-3. PMID: 17210076Free PMC Article

Diagnosis

Caldito EG, Kaul S, Caldito NG, Piette W, Mehta S
J Am Acad Dermatol 2024 Mar;90(3):453-462. Epub 2023 Jun 24 doi: 10.1016/j.jaad.2023.02.071. PMID: 37364617
Caiza-Zambrano F, Galarza J, Benetti M, Gonzalez F, Landriscina P, Reisin R, León-Cejas L
Pract Neurol 2023 Aug;23(4):343-345. Epub 2023 Jun 30 doi: 10.1136/pn-2023-003770. PMID: 37391230
Raef HS, Williams M, Fedeles F
Dermatol Ther 2022 Nov;35(11):e15860. Epub 2022 Oct 6 doi: 10.1111/dth.15860. PMID: 36164837
Dean SM
Prog Cardiovasc Dis 2018 Mar-Apr;60(6):567-579. Epub 2018 Mar 10 doi: 10.1016/j.pcad.2018.03.004. PMID: 29534983
Klein-Weigel PF, Volz TS, Richter JG
Vasa 2018 Feb;47(2):91-97. Epub 2018 Jan 4 doi: 10.1024/0301-1526/a000675. PMID: 29299961

Therapy

Caiza-Zambrano F, Galarza J, Benetti M, Gonzalez F, Landriscina P, Reisin R, León-Cejas L
Pract Neurol 2023 Aug;23(4):343-345. Epub 2023 Jun 30 doi: 10.1136/pn-2023-003770. PMID: 37391230
Gambichler T, Boms S, Susok L, Dickel H, Finis C, Abu Rached N, Barras M, Stücker M, Kasakovski D
J Eur Acad Dermatol Venereol 2022 Feb;36(2):172-180. Epub 2021 Nov 2 doi: 10.1111/jdv.17744. PMID: 34661927Free PMC Article
McMahon DE, Amerson E, Rosenbach M, Lipoff JB, Moustafa D, Tyagi A, Desai SR, French LE, Lim HW, Thiers BH, Hruza GJ, Blumenthal KG, Fox LP, Freeman EE
J Am Acad Dermatol 2021 Jul;85(1):46-55. Epub 2021 Apr 7 doi: 10.1016/j.jaad.2021.03.092. PMID: 33838206Free PMC Article
Mann N, King T, Murphy R
Clin Exp Dermatol 2019 Jul;44(5):477-482. Epub 2019 Jan 4 doi: 10.1111/ced.13891. PMID: 30609105
Brière JB
Orphanet J Rare Dis 2007 Jan 8;2:3. doi: 10.1186/1750-1172-2-3. PMID: 17210076Free PMC Article

Prognosis

Klein-Weigel PF, Volz TS, Richter JG
Vasa 2018 Feb;47(2):91-97. Epub 2018 Jan 4 doi: 10.1024/0301-1526/a000675. PMID: 29299961
Cozzani E, Iurlo A, Merlo G, Cattaneo D, Burlando M, Pierri I, Gugliotta L, Parodi A
Clin Lymphoma Myeloma Leuk 2015 Dec;15(12):739-47. Epub 2015 Sep 3 doi: 10.1016/j.clml.2015.08.086. PMID: 26432058
Linnemann B, Erbe M
Vasa 2015 May;44(3):166-77. doi: 10.1024/0301-1526/a000426. PMID: 26098320
Park HJ, Ranganathan P
Rheum Dis Clin North Am 2011 Nov;37(4):593-606. doi: 10.1016/j.rdc.2011.09.002. PMID: 22075199
Brière JB
Orphanet J Rare Dis 2007 Jan 8;2:3. doi: 10.1186/1750-1172-2-3. PMID: 17210076Free PMC Article

Clinical prediction guides

Perez-Sanchez J, Middleton SJ, Pattison LA, Hilton H, Ali Awadelkareem M, Zuberi SR, Renke MB, Hu H, Yang X, Clark AJ, St John Smith E, Bennett DL
Sci Transl Med 2023 Oct 4;15(716):eadh3839. doi: 10.1126/scitranslmed.adh3839. PMID: 37792955Free PMC Article
Yuan JH, Cheng X, Matsuura E, Higuchi Y, Ando M, Hashiguchi A, Yoshimura A, Nakachi R, Mine J, Taketani T, Maeda K, Kawakami S, Kira R, Tanaka S, Kanai K, Dib-Hajj F, Dib-Hajj SD, Waxman SG, Takashima H
J Peripher Nerv Syst 2023 Dec;28(4):597-607. Epub 2023 Aug 18 doi: 10.1111/jns.12590. PMID: 37555797
Gambichler T, Boms S, Susok L, Dickel H, Finis C, Abu Rached N, Barras M, Stücker M, Kasakovski D
J Eur Acad Dermatol Venereol 2022 Feb;36(2):172-180. Epub 2021 Nov 2 doi: 10.1111/jdv.17744. PMID: 34661927Free PMC Article
McMahon DE, Amerson E, Rosenbach M, Lipoff JB, Moustafa D, Tyagi A, Desai SR, French LE, Lim HW, Thiers BH, Hruza GJ, Blumenthal KG, Fox LP, Freeman EE
J Am Acad Dermatol 2021 Jul;85(1):46-55. Epub 2021 Apr 7 doi: 10.1016/j.jaad.2021.03.092. PMID: 33838206Free PMC Article
Klein-Weigel PF, Volz TS, Richter JG
Vasa 2018 Feb;47(2):91-97. Epub 2018 Jan 4 doi: 10.1024/0301-1526/a000675. PMID: 29299961

Recent systematic reviews

Arthur L, Keen K, Verriotis M, Peters J, Kelly A, Howard RF, Dib-Hajj SD, Waxman SG, Walker SM
J Pediatr 2019 Mar;206:217-224.e9. Epub 2018 Nov 9 doi: 10.1016/j.jpeds.2018.10.024. PMID: 30416015

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