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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
Fikri R, Bicknell CD, Bloomfield LM, Lyons SP, Samarasinghe DG, Gibbs RG, Valabhji J
Diabetes Care 2011 Aug;34(8):e134. doi: 10.2337/dc11-0848. PMID: 21788637Free PMC Article

Recent clinical studies

Etiology

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
Pet MA, Gupta D, Tse RW
Pediatr Dermatol 2016 Sep;33(5):e327-32. Epub 2016 Jul 28 doi: 10.1111/pde.12944. PMID: 27470191
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

Banoub MS, Konrath EM, Khan BA, Elkattah RA
CRSLS 2024 Jul-Sep;11(3) Epub 2024 Oct 22 doi: 10.4293/CRSLS.2024.00025. PMID: 39444420Free PMC Article
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
Zhou JL, Zhu XC, Fang YL, Huang R, Wang QY, Ge WP
Arch Dis Child Fetal Neonatal Ed 2021 Mar;106(2):204. Epub 2020 Jun 16 doi: 10.1136/archdischild-2020-318902. PMID: 32546541
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

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
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
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
Pet MA, Gupta D, Tse RW
Pediatr Dermatol 2016 Sep;33(5):e327-32. Epub 2016 Jul 28 doi: 10.1111/pde.12944. PMID: 27470191
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
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
Pet MA, Gupta D, Tse RW
Pediatr Dermatol 2016 Sep;33(5):e327-32. Epub 2016 Jul 28 doi: 10.1111/pde.12944. PMID: 27470191
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
Al Wahbi A
Diabetes Metab Syndr 2019 Mar-Apr;13(2):959-963. Epub 2018 Dec 27 doi: 10.1016/j.dsx.2018.12.021. PMID: 31336551
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
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

Pang KH, Randhawa K, Tang S, Fallara G, Katelaris A, Castiglione F, Ahmed K, Blecher G, Christopher N, Ralph DJ, Muneer A, Alnajjar HM
Int J Impot Res 2024 Aug;36(5):498-508. Epub 2023 Mar 1 doi: 10.1038/s41443-023-00675-8. PMID: 36859681Free 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
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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