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  • Wrong UID 425004

Paroxysmal extreme pain disorder(PEXPD)

MedGen UID:
331565
Concept ID:
C1833661
Disease or Syndrome
Synonyms: PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING; PEXPD; RECTAL PAIN, FAMILIAL
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Familial rectal pain (699190008); Submandibular, ocular and rectal pain with flushing (699190008); Paroxysmal extreme pain disorder (699190008)
 
Gene (location): SCN9A (2q24.3)
OMIM®: 167400
Orphanet: ORPHA46348

Definition

Paroxysmal extreme pain disorder, formerly known as familial rectal pain, is characterized by paroxysms of rectal, ocular, or submandibular pain with flushing. Onset is usually in the neonatal period or infancy (Fertleman et al., 2006). [from OMIM]

Additional description

From GHR
Paroxysmal extreme pain disorder is a condition characterized by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body. The area of flushing typically corresponds to the site of the pain. The pain attacks experienced by people with paroxysmal extreme pain disorder usually last seconds to minutes, but in some cases can last hours. These attacks can start as early as infancy. Early in life, the pain is typically concentrated in the lower part of the body, especially around the rectum, and is usually triggered by a bowel movement. Some children may develop constipation, which is thought to be due to fear of triggering a pain attack. Pain attacks in these young children may also be accompanied by seizures, slow heartbeat, or short pauses in breathing (apnea).As a person with paroxysmal extreme pain disorder ages, the location of pain changes. Pain attacks switch from affecting the lower body to affecting the head and face, especially the eyes and jaw. Triggers of these pain attacks include changes in temperature (such as a cold wind) and emotional distress as well as eating spicy foods and drinking cold drinks.Paroxysmal extreme pain disorder is 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.  https://ghr.nlm.nih.gov/condition/paroxysmal-extreme-pain-disorder

Clinical features

Ocular pain
MedGen UID:
57490
Concept ID:
C0151827
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye.
Mandibular pain
MedGen UID:
451005
Concept ID:
C0236000
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVParoxysmal extreme pain disorder
Follow this link to review classifications for Paroxysmal extreme pain disorder in Orphanet.

Recent clinical studies

Etiology

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
Themistocleous AC, Ramirez JD, Serra J, Bennett DL
Pract Neurol 2014 Dec;14(6):368-79. Epub 2014 Apr 28 doi: 10.1136/practneurol-2013-000758. PMID: 24778270Free PMC Article
Klein CJ, Wu Y, Kilfoyle DH, Sandroni P, Davis MD, Gavrilova RH, Low PA, Dyck PJ
J Neurol Neurosurg Psychiatry 2013 Apr;84(4):386-91. Epub 2012 Nov 5 doi: 10.1136/jnnp-2012-303719. PMID: 23129781Free PMC Article
Vargas-Alarcon G, Alvarez-Leon E, Fragoso JM, Vargas A, Martinez A, Vallejo M, Martinez-Lavin M
BMC Musculoskelet Disord 2012 Feb 20;13:23. doi: 10.1186/1471-2474-13-23. PMID: 22348792Free PMC Article
Cox JJ, Sheynin J, Shorer Z, Reimann F, Nicholas AK, Zubovic L, Baralle M, Wraige E, Manor E, Levy J, Woods CG, Parvari R
Hum Mutat 2010 Sep;31(9):E1670-86. doi: 10.1002/humu.21325. PMID: 20635406Free PMC Article

Diagnosis

Kim DT, Rossignol E, Najem K, Ospina LH
J AAPOS 2015 Oct;19(5):478-9. doi: 10.1016/j.jaapos.2015.05.015. PMID: 26486037
Imai N, Miyake N, Saito Y, Kobayashi E, Ikawa M, Manaka S, Shiina M, Ogata K, Matsumoto N
J Headache Pain 2015;16:519. Epub 2015 Apr 23 doi: 10.1186/s10194-015-0519-3. PMID: 25903274Free PMC Article
Suter MR, Bhuiyan ZA, Laedermann CJ, Kuntzer T, Schaller M, Stauffacher MW, Roulet E, Abriel H, Decosterd I, Wider C
Anesthesiology 2015 Feb;122(2):414-23. doi: 10.1097/ALN.0000000000000476. PMID: 25285947
Meglič A, Perkovič-Benedik M, Trebušak Podkrajšek K, Bertok S
Pediatr Nephrol 2014 Sep;29(9):1643-6. Epub 2014 May 12 doi: 10.1007/s00467-014-2819-2. PMID: 24817410
Theile JW, Jarecki BW, Piekarz AD, Cummins TR
J Physiol 2011 Feb 1;589(Pt 3):597-608. Epub 2010 Nov 29 doi: 10.1113/jphysiol.2010.200915. PMID: 21115638Free PMC Article

Therapy

Kim DT, Rossignol E, Najem K, Ospina LH
J AAPOS 2015 Oct;19(5):478-9. doi: 10.1016/j.jaapos.2015.05.015. PMID: 26486037
Suter MR
Pain Manag 2015;5(4):229-32. Epub 2015 Jun 10 doi: 10.2217/pmt.15.24. PMID: 26059255
Meglič A, Perkovič-Benedik M, Trebušak Podkrajšek K, Bertok S
Pediatr Nephrol 2014 Sep;29(9):1643-6. Epub 2014 May 12 doi: 10.1007/s00467-014-2819-2. PMID: 24817410
Eberhardt M, Nakajima J, Klinger AB, Neacsu C, Hühne K, O'Reilly AO, Kist AM, Lampe AK, Fischer K, Gibson J, Nau C, Winterpacht A, Lampert A
J Biol Chem 2014 Jan 24;289(4):1971-80. Epub 2013 Dec 5 doi: 10.1074/jbc.M113.502211. PMID: 24311784Free PMC Article
Fertleman CR, Ferrie CD, Aicardi J, Bednarek NA, Eeg-Olofsson O, Elmslie FV, Griesemer DA, Goutières F, Kirkpatrick M, Malmros IN, Pollitzer M, Rossiter M, Roulet-Perez E, Schubert R, Smith VV, Testard H, Wong V, Stephenson JB
Neurology 2007 Aug 7;69(6):586-95. doi: 10.1212/01.wnl.0000268065.16865.5f. PMID: 17679678

Prognosis

Suter MR, Bhuiyan ZA, Laedermann CJ, Kuntzer T, Schaller M, Stauffacher MW, Roulet E, Abriel H, Decosterd I, Wider C
Anesthesiology 2015 Feb;122(2):414-23. doi: 10.1097/ALN.0000000000000476. PMID: 25285947
Cross JH
Semin Fetal Neonatal Med 2013 Aug;18(4):192-5. Epub 2013 Apr 30 doi: 10.1016/j.siny.2013.04.003. PMID: 23642846
Dabby R, Sadeh M, Gilad R, Lampl Y, Cohen S, Inbar S, Leshinsky-Silver E
J Neurol Sci 2011 Feb 15;301(1-2):90-2. Epub 2010 Nov 20 doi: 10.1016/j.jns.2010.10.006. PMID: 21094958
Reimann F, Cox JJ, Belfer I, Diatchenko L, Zaykin DV, McHale DP, Drenth JP, Dai F, Wheeler J, Sanders F, Wood L, Wu TX, Karppinen J, Nikolajsen L, Männikkö M, Max MB, Kiselycznyk C, Poddar M, Te Morsche RH, Smith S, Gibson D, Kelempisioti A, Maixner W, Gribble FM, Woods CG
Proc Natl Acad Sci U S A 2010 Mar 16;107(11):5148-53. Epub 2010 Mar 8 doi: 10.1073/pnas.0913181107. PMID: 20212137Free PMC Article
Samuels ME, te Morsche RH, Lynch ME, Drenth JP
Mol Pain 2008 Jun 2;4:21. doi: 10.1186/1744-8069-4-21. PMID: 18518989Free PMC Article

Clinical prediction guides

Rice FL, Albrecht PJ, Wymer JP, Black JA, Merkies IS, Faber CG, Waxman SG
Mol Pain 2015 May 9;11:26. doi: 10.1186/s12990-015-0024-3. PMID: 25957174Free PMC Article
Suter MR, Bhuiyan ZA, Laedermann CJ, Kuntzer T, Schaller M, Stauffacher MW, Roulet E, Abriel H, Decosterd I, Wider C
Anesthesiology 2015 Feb;122(2):414-23. doi: 10.1097/ALN.0000000000000476. PMID: 25285947
Vargas-Alarcon G, Alvarez-Leon E, Fragoso JM, Vargas A, Martinez A, Vallejo M, Martinez-Lavin M
BMC Musculoskelet Disord 2012 Feb 20;13:23. doi: 10.1186/1471-2474-13-23. PMID: 22348792Free PMC Article
Estacion M, Dib-Hajj SD, Benke PJ, Te Morsche RH, Eastman EM, Macala LJ, Drenth JP, Waxman SG
J Neurosci 2008 Oct 22;28(43):11079-88. doi: 10.1523/JNEUROSCI.3443-08.2008. PMID: 18945915
Jarecki BW, Sheets PL, Jackson JO 2nd, Cummins TR
J Physiol 2008 Sep 1;586(17):4137-53. Epub 2008 Jul 3 doi: 10.1113/jphysiol.2008.154906. PMID: 18599537Free PMC Article

Recent systematic reviews

Themistocleous AC, Ramirez JD, Serra J, Bennett DL
Pract Neurol 2014 Dec;14(6):368-79. Epub 2014 Apr 28 doi: 10.1136/practneurol-2013-000758. PMID: 24778270Free PMC Article

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