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Autoamputation

MedGen UID:
331463
Concept ID:
C1833222
Finding
HPO: HP:0001218

Definition

Auto-amputation is the spontaneous detachment of an appendage from the body due to long standing pathology. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutoamputation

Conditions with this feature

Charcot-Marie-Tooth disease type 2B
MedGen UID:
371512
Concept ID:
C1833219
Disease or Syndrome
A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. Onset in the second or third decade has manifestations of ulceration and infection of the feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss. Tendon reflexes are only reduced at ankles and foot deformities including pes cavus or planus and hammer toes, appear in childhood.

Professional guidelines

PubMed

Bascietto F, Liberati M, Marrone L, Khalil A, Pagani G, Gustapane S, Leombroni M, Buca D, Flacco ME, Rizzo G, Acharya G, Manzoli L, D'Antonio F
Ultrasound Obstet Gynecol 2017 Jul;50(1):20-31. Epub 2017 Jun 7 doi: 10.1002/uog.16002. PMID: 27325566
Kim HS, Yoo SY, Cha MJ, Kim JH, Jeon TY, Kim WK
J Clin Ultrasound 2016 Jun;44(5):290-7. Epub 2016 Feb 1 doi: 10.1002/jcu.22327. PMID: 27154434
Zampieri N, Mantovani A, Scirè G, Camoglio FS
J Pediatr Adolesc Gynecol 2014 Oct;27(5):271-3. Epub 2014 May 16 doi: 10.1016/j.jpag.2013.11.012. PMID: 24841518

Recent clinical studies

Etiology

Toker Kurtmen B, Divarci E, Ergun O, Ozok G, Celik A
J Pediatr Adolesc Gynecol 2022 Feb;35(1):18-22. Epub 2021 Aug 25 doi: 10.1016/j.jpag.2021.08.007. PMID: 34454073
Kanneganti A, Bhadiraju P, Tong PSY
Eur J Obstet Gynecol Reprod Biol 2021 Jul;262:134-141. Epub 2021 May 7 doi: 10.1016/j.ejogrb.2021.05.005. PMID: 34022590
Raimi TH, Alese OO
Pan Afr Med J 2014;18:199. Epub 2014 Jul 5 doi: 10.11604/pamj.2014.18.199.3593. PMID: 25419326Free PMC Article
Bogoch ER, Gross DK
J Rheumatol 2005 Apr;32(4):642-8. PMID: 15801019
Kumar L, Singh S
Indian J Pediatr 1996 May-Jun;63(3):323-34. doi: 10.1007/BF02751524. PMID: 10830007

Diagnosis

Parlak A, Celik F, Turedi Sezer B, Yilmaz MU, Kilic N, Kiristioglu I, Balkan E, Dogruyol H
Pediatr Surg Int 2022 Nov;38(11):1649-1655. Epub 2022 Aug 14 doi: 10.1007/s00383-022-05192-1. PMID: 35964259
Wang M, Ning S, Liu Y, Chen Z, Jiang H, Faiz S, Luo F
BMC Surg 2022 Jun 27;22(1):249. doi: 10.1186/s12893-022-01700-1. PMID: 35761272Free PMC Article
Lee KH, Song MJ, Jung IC, Lee YS, Park EK
World J Surg Oncol 2016 Aug 17;14(1):217. doi: 10.1186/s12957-016-0981-7. PMID: 27535361Free PMC Article
Duchatelet S, Hovnanian A
Orphanet J Rare Dis 2015 Mar 17;10:33. doi: 10.1186/s13023-015-0246-5. PMID: 25886873Free PMC Article
Kumar L, Singh S
Indian J Pediatr 1996 May-Jun;63(3):323-34. doi: 10.1007/BF02751524. PMID: 10830007

Therapy

Punj J, Garg H, Gomez G, Bagri NK, Thakur JP, Singh LD, Jain D, Darlong V, Pandey R
Pain Med 2022 Jul 1;23(7):1211-1216. doi: 10.1093/pm/pnac015. PMID: 35135008
Umair HM, Sandler RD, Alunno A, Matucci-Cerinic M, Hughes M
Semin Arthritis Rheum 2021 Dec;51(6):1200-1204. Epub 2021 Sep 16 doi: 10.1016/j.semarthrit.2021.09.002. PMID: 34655948
McGrath RB, Cahill KC, Eadie PA, Harty SB
BMJ Case Rep 2020 Mar 17;13(3) doi: 10.1136/bcr-2019-233143. PMID: 32188608Free PMC Article
Raimi TH, Alese OO
Pan Afr Med J 2014;18:199. Epub 2014 Jul 5 doi: 10.11604/pamj.2014.18.199.3593. PMID: 25419326Free PMC Article
Lim SY, Lim JH, Horn C
J Clin Rheumatol 2014 Apr;20(3):155-9. doi: 10.1097/RHU.0000000000000043. PMID: 24662558

Prognosis

Gandhi S, Opyrchal M, Grimm MJ, Slomba RT, Kokolus KM, Witkiewicz A, Attwood K, Groman A, Williams L, Tarquini ML, Wallace PK, Soh KT, Minderman H, Maguire O, O'Connor TL, Early AP, Levine EG, Kalinski P
J Immunother Cancer 2023 Nov;11(11) doi: 10.1136/jitc-2023-007381. PMID: 37963636Free PMC Article
Bascietto F, Liberati M, Marrone L, Khalil A, Pagani G, Gustapane S, Leombroni M, Buca D, Flacco ME, Rizzo G, Acharya G, Manzoli L, D'Antonio F
Ultrasound Obstet Gynecol 2017 Jul;50(1):20-31. Epub 2017 Jun 7 doi: 10.1002/uog.16002. PMID: 27325566
Lee KH, Song MJ, Jung IC, Lee YS, Park EK
World J Surg Oncol 2016 Aug 17;14(1):217. doi: 10.1186/s12957-016-0981-7. PMID: 27535361Free PMC Article
Lim SY, Lim JH, Horn C
J Clin Rheumatol 2014 Apr;20(3):155-9. doi: 10.1097/RHU.0000000000000043. PMID: 24662558
Kumar L, Singh S
Indian J Pediatr 1996 May-Jun;63(3):323-34. doi: 10.1007/BF02751524. PMID: 10830007

Clinical prediction guides

Gandhi S, Opyrchal M, Grimm MJ, Slomba RT, Kokolus KM, Witkiewicz A, Attwood K, Groman A, Williams L, Tarquini ML, Wallace PK, Soh KT, Minderman H, Maguire O, O'Connor TL, Early AP, Levine EG, Kalinski P
J Immunother Cancer 2023 Nov;11(11) doi: 10.1136/jitc-2023-007381. PMID: 37963636Free PMC Article
Djokic D, Milani GP, Lava SAG, Gualco G, Corigliano T, Bianchetti MG, Lavagno C
Swiss Med Wkly 2023 Nov 9;153:40124. doi: 10.57187/smw.2023.40124. PMID: 37955631
Vijayan N, Vijayvergia P, Bohra GK, Garg MK, Gopalakrishnan M
Clin Rheumatol 2022 Nov;41(11):3543-3549. Epub 2022 Jul 3 doi: 10.1007/s10067-022-06265-1. PMID: 35780227
Umair HM, Sandler RD, Alunno A, Matucci-Cerinic M, Hughes M
Semin Arthritis Rheum 2021 Dec;51(6):1200-1204. Epub 2021 Sep 16 doi: 10.1016/j.semarthrit.2021.09.002. PMID: 34655948
Duchatelet S, Hovnanian A
Orphanet J Rare Dis 2015 Mar 17;10:33. doi: 10.1186/s13023-015-0246-5. PMID: 25886873Free PMC Article

Recent systematic reviews

Djokic D, Milani GP, Lava SAG, Gualco G, Corigliano T, Bianchetti MG, Lavagno C
Swiss Med Wkly 2023 Nov 9;153:40124. doi: 10.57187/smw.2023.40124. PMID: 37955631
Kanneganti A, Bhadiraju P, Tong PSY
Eur J Obstet Gynecol Reprod Biol 2021 Jul;262:134-141. Epub 2021 May 7 doi: 10.1016/j.ejogrb.2021.05.005. PMID: 34022590
Bascietto F, Liberati M, Marrone L, Khalil A, Pagani G, Gustapane S, Leombroni M, Buca D, Flacco ME, Rizzo G, Acharya G, Manzoli L, D'Antonio F
Ultrasound Obstet Gynecol 2017 Jul;50(1):20-31. Epub 2017 Jun 7 doi: 10.1002/uog.16002. PMID: 27325566
Bogoch ER, Gross DK
J Rheumatol 2005 Apr;32(4):642-8. PMID: 15801019

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