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Abnormally lax or hyperextensible skin

MedGen UID:
870294
Concept ID:
C4024736
Anatomical Abnormality
Synonyms: Abnormally loose or hyperelastic skin; Abnormally loose or stretchable skin
 
HPO: HP:0008067

Professional guidelines

PubMed

Xu K, Li G, Wu Z, Zhang TJ, Wu N; Chinese Multi-Disciplinary Working Group on the Ehlers-Danlos Syndromes
Orphanet J Rare Dis 2024 May 13;19(1):194. doi: 10.1186/s13023-024-03121-0. PMID: 38741208Free PMC Article
Damseh N, Dupuis L, O'Connor C, Oh RY, Wang YW, Stavropoulos DJ, Schwartz SB, Mendoza-Londono R
Am J Med Genet A 2022 May;188(5):1376-1383. Epub 2022 Feb 6 doi: 10.1002/ajmg.a.62672. PMID: 35128800
Hahn RT, Abraham T, Adams MS, Bruce CJ, Glas KE, Lang RM, Reeves ST, Shanewise JS, Siu SC, Stewart W, Picard MH
J Am Soc Echocardiogr 2013 Sep;26(9):921-64. doi: 10.1016/j.echo.2013.07.009. PMID: 23998692

Recent clinical studies

Etiology

Gensemer C, Burks R, Kautz S, Judge DP, Lavallee M, Norris RA
Dev Dyn 2021 Mar;250(3):318-344. Epub 2020 Aug 17 doi: 10.1002/dvdy.220. PMID: 32629534Free PMC Article
Malfait F, Castori M, Francomano CA, Giunta C, Kosho T, Byers PH
Nat Rev Dis Primers 2020 Jul 30;6(1):64. doi: 10.1038/s41572-020-0194-9. PMID: 32732924
van Gool JD, Hirche H, Lax H, De Schaepdrijver L
Reprod Toxicol 2018 Sep;80:73-84. Epub 2018 May 16 doi: 10.1016/j.reprotox.2018.05.004. PMID: 29777755
Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B
Am J Med Genet C Semin Med Genet 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552. PMID: 28306229
Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-Seebacher I, Kosho T, Mendoza-Londono R, Pope MF, Rohrbach M, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Zschocke J, Malfait F
Am J Med Genet C Semin Med Genet 2017 Mar;175(1):70-115. doi: 10.1002/ajmg.c.31550. PMID: 28306225

Diagnosis

Gensemer C, Burks R, Kautz S, Judge DP, Lavallee M, Norris RA
Dev Dyn 2021 Mar;250(3):318-344. Epub 2020 Aug 17 doi: 10.1002/dvdy.220. PMID: 32629534Free PMC Article
Malfait F, Castori M, Francomano CA, Giunta C, Kosho T, Byers PH
Nat Rev Dis Primers 2020 Jul 30;6(1):64. doi: 10.1038/s41572-020-0194-9. PMID: 32732924
Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B
Am J Med Genet C Semin Med Genet 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552. PMID: 28306229
Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-Seebacher I, Kosho T, Mendoza-Londono R, Pope MF, Rohrbach M, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Zschocke J, Malfait F
Am J Med Genet C Semin Med Genet 2017 Mar;175(1):70-115. doi: 10.1002/ajmg.c.31550. PMID: 28306225
Grahame R
S Afr Med J 2016 May 25;106(6 Suppl 1):S45-6. doi: 10.7196/SAMJ.2016.v106i6.10991. PMID: 27245524

Therapy

Karlsson B, Jokura H, Yang HC, Yamamoto M, Martinez-Alvarez R, Kawagishi J, Guo WY, Chung WY, Söderman M, Yeo TT, Lax I
Neurosurgery 2022 Dec 1;91(6):920-927. Epub 2022 Oct 5 doi: 10.1227/neu.0000000000002130. PMID: 36219806Free PMC Article
Lax SJ, Harvey J, Axon E, Howells L, Santer M, Ridd MJ, Lawton S, Langan S, Roberts A, Ahmed A, Muller I, Ming LC, Panda S, Chernyshov P, Carter B, Williams HC, Thomas KS, Chalmers JR
Cochrane Database Syst Rev 2022 Mar 11;3(3):CD013356. doi: 10.1002/14651858.CD013356.pub2. PMID: 35275399Free PMC Article
Benson CS, Shah A, Stanworth SJ, Frise CJ, Spiby H, Lax SJ, Murray J, Klein AA
Anaesthesia 2021 Apr;76 Suppl 4:84-95. doi: 10.1111/anae.15405. PMID: 33682105
Melvin JE, Hickey RW
Pediatr Emerg Care 2019 Jul;35(7):e127. doi: 10.1097/PEC.0000000000001498. PMID: 29746360
van Gool JD, Hirche H, Lax H, De Schaepdrijver L
Reprod Toxicol 2018 Sep;80:73-84. Epub 2018 May 16 doi: 10.1016/j.reprotox.2018.05.004. PMID: 29777755

Prognosis

Karlsson B, Jokura H, Yang HC, Yamamoto M, Martinez-Alvarez R, Kawagishi J, Guo WY, Chung WY, Söderman M, Yeo TT, Lax I
Neurosurgery 2022 Dec 1;91(6):920-927. Epub 2022 Oct 5 doi: 10.1227/neu.0000000000002130. PMID: 36219806Free PMC Article
Loganathan AK, Barla S S RK, Kurian JJ
BMJ Case Rep 2020 Oct 30;13(10) doi: 10.1136/bcr-2020-236611. PMID: 33127698Free PMC Article
Huh JK, Chung MS, Baek GH, Oh JH, Lee YH, Gong HS
J Hand Surg Am 2011 Apr;36(4):653-7. doi: 10.1016/j.jhsa.2010.12.033. PMID: 21411242
Svensson JF, Schlinzig T, Kaiser S
J Pediatr Surg 2010 Mar;45(3):635-8. doi: 10.1016/j.jpedsurg.2009.12.017. PMID: 20223334
Cianciulli TF, Del Carmen Gonzalez Colaso P, Saccheri MC, Lax JA, Redruello HJ, Guerra JE, Prezioso HA, Vidal LA
Cardiol J 2009;16(1):76-81. PMID: 19130420

Clinical prediction guides

Jamieson A, Vermij L, Kramer CJH, Jobsen JJ, Jürgemlienk-Schulz I, Lutgens L, Mens JW, Haverkort MAD, Slot A, Nout RA, Oosting J, Carlson J, Howitt BE, Ip PPC, Lax SF, McCluggage WG, Singh N, McAlpine JN, Creutzberg CL, Horeweg N, Gilks CB, Bosse T
Clin Cancer Res 2023 Dec 1;29(23):4949-4957. doi: 10.1158/1078-0432.CCR-23-1397. PMID: 37773079Free PMC Article
Smith LA, Chen C, Lax NZ, Taylor RW, Erskine D, McFarland R
Acta Neuropathol Commun 2023 May 31;11(1):86. doi: 10.1186/s40478-023-01579-w. PMID: 37259148Free PMC Article
Lax DN, Bieri P, Patel P
J Neurol Sci 2021 Nov 15;430:120003. Epub 2021 Sep 25 doi: 10.1016/j.jns.2021.120003. PMID: 34655904
Benson CS, Shah A, Stanworth SJ, Frise CJ, Spiby H, Lax SJ, Murray J, Klein AA
Anaesthesia 2021 Apr;76 Suppl 4:84-95. doi: 10.1111/anae.15405. PMID: 33682105
Malfait F, Wenstrup RJ, De Paepe A
Genet Med 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. PMID: 20847697

Recent systematic reviews

Lax SJ, Harvey J, Axon E, Howells L, Santer M, Ridd MJ, Lawton S, Langan S, Roberts A, Ahmed A, Muller I, Ming LC, Panda S, Chernyshov P, Carter B, Williams HC, Thomas KS, Chalmers JR
Cochrane Database Syst Rev 2022 Mar 11;3(3):CD013356. doi: 10.1002/14651858.CD013356.pub2. PMID: 35275399Free PMC Article
Martín-Martín M, Cortés-Martín J, Tovar-Gálvez MI, Sánchez-García JC, Díaz-Rodríguez L, Rodríguez-Blanque R
Int J Environ Res Public Health 2022 Feb 7;19(3) doi: 10.3390/ijerph19031870. PMID: 35162892Free PMC Article
Kapferer-Seebacher I, Schnabl D, Zschocke J, Pope FM
Acta Derm Venereol 2020 Mar 25;100(7):adv00092. doi: 10.2340/00015555-3428. PMID: 32147746Free PMC Article
Kapferer-Seebacher I, Lundberg P, Malfait F, Zschocke J
J Clin Periodontol 2017 Nov;44(11):1088-1100. Epub 2017 Sep 25 doi: 10.1111/jcpe.12807. PMID: 28836281
Bartoli F, Lax A, Crocamo C, Clerici M, Carrà G
Psychoneuroendocrinology 2015 Jun;56:179-89. Epub 2015 Mar 14 doi: 10.1016/j.psyneuen.2015.03.012. PMID: 25827962

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