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Inherited cutis laxa

MedGen UID:
609465
•Concept ID:
C0432334
•
Disease or Syndrome
Synonyms: hereditary cutis laxa; inherited cutis laxa
SNOMED CT: Inherited cutis laxa (254220005)
 
Monarch Initiative: MONDO:0100237
OMIM® Phenotypic series: PS123700

Definition

An instance of cutis laxa that is inherited. [from MONDO]

Professional guidelines

PubMed

GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations.
De Vilder EY, Debacker J, Vanakker OM
Int J Mol Sci 2017 Jan 25;18(2) doi: 10.3390/ijms18020240. PMID: 28125048Free PMC Article
Inherited copper transport disorders: biochemical mechanisms, diagnosis, and treatment.
Kodama H, Fujisawa C, Bhadhprasit W
Curr Drug Metab 2012 Mar;13(3):237-50. doi: 10.2174/138920012799320455. PMID: 21838703Free PMC Article

Recent clinical studies

Etiology

Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa.
Mohamed M, Gardeitchik T, Balasubramaniam S, Guerrero-Castillo S, Dalloyaux D, van Kraaij S, Venselaar H, Hoischen A, Urban Z, Brandt U, Al-Shawi R, Simons JP, Frison M, Ngu LH, Callewaert B, Spelbrink H, Kallemeijn WW, Aerts JMFG, Waugh MG, Morava E, Wevers RA
J Inherit Metab Dis 2020 Nov;43(6):1382-1391. Epub 2020 Jun 26 doi: 10.1002/jimd.12255. PMID: 32418222Free PMC Article
Decreased bone density and treatment in patients with autosomal recessive cutis laxa.
Noordam C, Funke S, Knoers NV, Jira P, Wevers RA, Urban Z, Morava E
Acta Paediatr 2009 Mar;98(3):490-4. Epub 2008 Dec 4 doi: 10.1111/j.1651-2227.2008.01145.x. PMID: 19055655
Elastin production and degradation in cutis laxa acquisita.
Fornieri C, Quaglino D, Lungarella G, Cavarra E, Tiozzo R, Giro MG, Canciani M, Davidson JM, Ronchetti IP
J Invest Dermatol 1994 Oct;103(4):583-8. doi: 10.1111/1523-1747.ep12396893. PMID: 7930686

Diagnosis

Bioenergetic analysis of aged-phenotype skin in a rare syndromic cutis laxa.
Nabavizadeh N, Shboul M, Hojati Z
J Cosmet Dermatol 2021 Sep;20(9):2999-3006. Epub 2021 Feb 1 doi: 10.1111/jocd.13951. PMID: 33522694
Cutis Laxa.
Mohamed M, Voet M, Gardeitchik T, Morava E
Adv Exp Med Biol 2014;802:161-84. doi: 10.1007/978-94-007-7893-1_11. PMID: 24443027
Metabolic cutis laxa syndromes.
Mohamed M, Kouwenberg D, Gardeitchik T, Kornak U, Wevers RA, Morava E
J Inherit Metab Dis 2011 Aug;34(4):907-16. Epub 2011 Mar 23 doi: 10.1007/s10545-011-9305-9. PMID: 21431621Free PMC Article
Decreased bone density and treatment in patients with autosomal recessive cutis laxa.
Noordam C, Funke S, Knoers NV, Jira P, Wevers RA, Urban Z, Morava E
Acta Paediatr 2009 Mar;98(3):490-4. Epub 2008 Dec 4 doi: 10.1111/j.1651-2227.2008.01145.x. PMID: 19055655
A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl.
Litzman J, Bucková H, Ventruba J, Holcíková A, Mikyska P, Lokaj J
Acta Paediatr 2003 Jul;92(7):861-4. doi: 10.1080/08035250310003596. PMID: 12892171

Therapy

Decreased bone density and treatment in patients with autosomal recessive cutis laxa.
Noordam C, Funke S, Knoers NV, Jira P, Wevers RA, Urban Z, Morava E
Acta Paediatr 2009 Mar;98(3):490-4. Epub 2008 Dec 4 doi: 10.1111/j.1651-2227.2008.01145.x. PMID: 19055655

Prognosis

Decreased bone density and treatment in patients with autosomal recessive cutis laxa.
Noordam C, Funke S, Knoers NV, Jira P, Wevers RA, Urban Z, Morava E
Acta Paediatr 2009 Mar;98(3):490-4. Epub 2008 Dec 4 doi: 10.1111/j.1651-2227.2008.01145.x. PMID: 19055655

Clinical prediction guides

Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders?
Vanakker OM, Leroy BP, Schurgers LJ, Vermeer C, Coucke PJ, De Paepe A
Am J Med Genet A 2011 Nov;155A(11):2855-9. Epub 2011 Sep 30 doi: 10.1002/ajmg.a.34264. PMID: 21964806
Decreased bone density and treatment in patients with autosomal recessive cutis laxa.
Noordam C, Funke S, Knoers NV, Jira P, Wevers RA, Urban Z, Morava E
Acta Paediatr 2009 Mar;98(3):490-4. Epub 2008 Dec 4 doi: 10.1111/j.1651-2227.2008.01145.x. PMID: 19055655
A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl.
Litzman J, Bucková H, Ventruba J, Holcíková A, Mikyska P, Lokaj J
Acta Paediatr 2003 Jul;92(7):861-4. doi: 10.1080/08035250310003596. PMID: 12892171
Elastin production and degradation in cutis laxa acquisita.
Fornieri C, Quaglino D, Lungarella G, Cavarra E, Tiozzo R, Giro MG, Canciani M, Davidson JM, Ronchetti IP
J Invest Dermatol 1994 Oct;103(4):583-8. doi: 10.1111/1523-1747.ep12396893. PMID: 7930686

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