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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

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
Whitelaw SE
Dermatol Nurs 2004 Oct;16(5):433-6, 449. PMID: 15624708

Recent clinical studies

Etiology

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
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
Ritelli M, Colombi M
Genes (Basel) 2020 May 13;11(5) doi: 10.3390/genes11050547. PMID: 32414079Free PMC Article
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

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
Ritelli M, Colombi M
Genes (Basel) 2020 May 13;11(5) doi: 10.3390/genes11050547. PMID: 32414079Free PMC Article
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
Bowen JM, Sobey GJ, Burrows NP, Colombi M, Lavallee ME, Malfait F, Francomano CA
Am J Med Genet C Semin Med Genet 2017 Mar;175(1):27-39. Epub 2017 Feb 13 doi: 10.1002/ajmg.c.31548. PMID: 28192633

Therapy

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
Miller AJ, Schubart JR, Sheehan T, Bascom R, Francomano CA
Genes (Basel) 2020 Jan 4;11(1) doi: 10.3390/genes11010055. PMID: 31947929Free PMC Article
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

Suriapperuma T, Randeny S, Mettananda S
J Med Case Rep 2022 Jul 22;16(1):284. doi: 10.1186/s13256-022-03512-6. PMID: 35864517Free PMC Article
Amarnani AA, Poladian KR, Marciano BE, Daub JR, Williams SG, Livinski AA, Hsu AP, Palmer CL, Kenney CM, Avila DN, Holland SM, Katz JD
Sci Rep 2020 May 20;10(1):8305. doi: 10.1038/s41598-020-64852-1. PMID: 32433473Free PMC Article
Solomon JA, Abrams L, Lichtenstein GR
Am J Gastroenterol 1996 Nov;91(11):2282-8. PMID: 8931403
Klipple GL, Riordan KK
Rheum Dis Clin North Am 1989 May;15(2):383-98. PMID: 2567043
Reid DC
Sports Med 1988 Nov;6(5):295-307. doi: 10.2165/00007256-198806050-00005. PMID: 3064238

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
Igharo D, Thiel JC, Rolke R, Akkaya M, Weis J, Katona I, Schulz JB, Maier A
Eur J Neurol 2023 Mar;30(3):719-728. Epub 2022 Dec 13 doi: 10.1111/ene.15649. PMID: 36437696
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, 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
Burcharth J, Rosenberg J
Dig Surg 2012;29(4):349-57. Epub 2012 Oct 22 doi: 10.1159/000343738. PMID: 23095510

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