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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

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Abnormally lax or hyperextensible skin

Phenotypic abnormality
- Abnormality of the integument
  - Abnormality of the skin
    - Abnormal skin morphology
      - Abnormal elasticity of skin
        Abnormally lax or hyperextensible skin
        Cutis laxa
        Arterial tortuosity syndrome
        Autosomal recessive cutis laxa type 1
        Craniofaciofrontodigital syndrome
        Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
        Cutis laxa, autosomal dominant
        Cutis laxa, autosomal dominant 1
        Cutis laxa, autosomal dominant 2
        Cutis laxa, autosomal dominant 3
        Cutis laxa, X-linked
        de Barsy syndrome
        ALDH18A1-related de Barsy syndrome
        PYCR1-related de Barsy syndrome
        Geroderma osteodysplastica
        Lethal arteriopathy syndrome due to fibulin-4 deficiency
        Redundant skin
        Redundant skin in infancy
        Redundant skin on fingers
        RIN2 syndrome
        SCARF syndrome
        Delayed recoil upon stretching of skin
        Hyperextensible skin
        Focal hyperextensible skin
        Hyperextensible skin of chest
        Hyperextensible skin of face
        Increased number of skin folds
        Localized area of pendulous skin

Professional guidelines

PubMed

Diagnosis and treatment of the Ehlers-Danlos syndromes in China: synopsis of the first guidelines.

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: 38741208 Free PMC Article

Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers-Danlos syndrome.

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

Guidelines for performing a comprehensive transesophageal echocardiographic examination: recommendations from the American Society of Echocardiography and the Society of Cardiovascular Anesthesiologists.

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

See all (11)

Recent clinical studies

Therapy

Strategies for using topical corticosteroids in children and adults with eczema.

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: 35275399 Free PMC Article

The effect of iron deficiency and anaemia on women's health.

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

Arterial Elasticity in Ehlers-Danlos Syndromes.

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

Laxative-Induced Contact Dermatitis.

Melvin JE, Hickey RW
Pediatr Emerg Care 2019 Jul;35(7):e127. doi: 10.1097/PEC.0000000000001498. PMID: 29746360

Folic acid and primary prevention of neural tube defects: A review.

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

See all (55)

Prognosis

Kagami-Ogata syndrome: a case report.

Suriapperuma T, Randeny S, Mettananda S
J Med Case Rep 2022 Jul 22;16(1):284. doi: 10.1186/s13256-022-03512-6. PMID: 35864517 Free PMC Article

A Panoply of Rheumatological Manifestations in Patients with GATA2 Deficiency.

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: 32433473 Free PMC Article

Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome.

Micale L, Guarnieri V, Augello B, Palumbo O, Agolini E, Sofia VM, Mazza T, Novelli A, Carella M, Castori M
Genes (Basel) 2019 Nov 25;10(12) doi: 10.3390/genes10120967. PMID: 31775249 Free PMC Article

Nephropathy associated with animal, plant, and chemical toxins in the tropics.

Jha V, Chugh KS
Semin Nephrol 2003 Jan;23(1):49-65. doi: 10.1053/snep.2003.50003. PMID: 12563601

GI manifestations of Ehlers-Danlos syndrome.

Solomon JA, Abrams L, Lichtenstein GR
Am J Gastroenterol 1996 Nov;91(11):2282-8. PMID: 8931403

See all (82)

Clinical prediction guides

Clinical Behavior and Molecular Landscape of Stage I p53-Abnormal Low-Grade Endometrioid Endometrial Carcinomas.

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: 37773079 Free PMC Article

Astrocytic pathology in Alpers' syndrome.

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: 37259148 Free PMC Article

The effect of iron deficiency and anaemia on women's health.

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

A Panoply of Rheumatological Manifestations in Patients with GATA2 Deficiency.

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.

Malfait F, Wenstrup RJ, De Paepe A
Genet Med 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. PMID: 20847697

See all (121)

Recent systematic reviews

Strategies for using topical corticosteroids in children and adults with eczema.

Ehlers-Danlos Syndrome Type Arthrochalasia: A Systematic Review.

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: 35162892 Free PMC Article

Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review.

Kapferer-Seebacher I, Schnabl D, Zschocke J, Pope FM
Acta Derm Venereol 2020 Mar 25;100(7):adv00092. doi: 10.2340/00015555-3428. PMID: 32147746 Free PMC Article

Periodontal manifestations of Ehlers-Danlos syndromes: A systematic review.

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

Plasma adiponectin levels in schizophrenia and role of second-generation antipsychotics: a meta-analysis.

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

See all (6)

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Abnormally lax or hyperextensible skin

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

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