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Hyperextensible skin of face

MedGen UID:
870437
•Concept ID:
C4024883
•
Finding
Synonyms: Hyperelastic face skin; Stretchable face skin
 
HPO: HP:0007425

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHyperextensible skin of face

Recent clinical studies

Etiology

Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients.
Colombi M, Dordoni C, Venturini M, Ciaccio C, Morlino S, Chiarelli N, Zanca A, Calzavara-Pinton P, Zoppi N, Castori M, Ritelli M
Clin Genet 2017 Dec;92(6):624-631. Epub 2017 Sep 4 doi: 10.1111/cge.13052. PMID: 28485813
Systemic connective tissue abnormalities in patients with saccular intracranial aneurysms.
Lebedeva ER, Sakovich VP
Acta Neurol Scand 2013 Aug;128(2):130-5. Epub 2013 Feb 7 doi: 10.1111/ane.12088. PMID: 23398630
Type 1 collagenopathy presenting with a Russell-Silver phenotype.
Parker MJ, Deshpande C, Rankin J, Wilson LC, Balasubramanian M, Hall CM, Wagner BE, Pollitt R, Dalton A, Bishop NJ
Am J Med Genet A 2011 Jun;155A(6):1414-8. Epub 2011 May 12 doi: 10.1002/ajmg.a.33998. PMID: 21567925
Facial aesthetic unit remodeling procedure for neurofibromatosis type 1 hemifacial hypertrophy: report on 33 consecutive adult patients.
Hivelin M, Wolkenstein P, Lepage C, Valeyrie-Allanore L, Meningaud JP, Lantieri L
Plast Reconstr Surg 2010 Apr;125(4):1197-1207. doi: 10.1097/PRS.0b013e3181d180e9. PMID: 20335870
Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder.
Grimbacher B, Holland SM, Gallin JI, Greenberg F, Hill SC, Malech HL, Miller JA, O'Connell AC, Puck JM
N Engl J Med 1999 Mar 4;340(9):692-702. doi: 10.1056/NEJM199903043400904. PMID: 10053178

Diagnosis

Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients.
Colombi M, Dordoni C, Venturini M, Ciaccio C, Morlino S, Chiarelli N, Zanca A, Calzavara-Pinton P, Zoppi N, Castori M, Ritelli M
Clin Genet 2017 Dec;92(6):624-631. Epub 2017 Sep 4 doi: 10.1111/cge.13052. PMID: 28485813
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.
Kariminejad A, Afroozan F, Bozorgmehr B, Ghanadan A, Akbaroghli S, Khorram Khorshid HR, Mojahedi F, Setoodeh A, Loh A, Tan YX, Escande-Beillard N, Malfait F, Reversade B, Gardeitchik T, Morava E
Int J Mol Sci 2017 Mar 15;18(3) doi: 10.3390/ijms18030635. PMID: 28294978Free PMC Article
Somatic mosaicism in B cells of a patient with autosomal dominant hyper IgE syndrome.
Alcántara-Montiel JC, Staines-Boone T, López-Herrera G, Berrón-Ruiz L, Borrego-Montoya CR, Santos-Argumedo L
Eur J Immunol 2016 Oct;46(10):2438-2443. Epub 2016 Aug 23 doi: 10.1002/eji.201546275. PMID: 27488252
Vascular Ehlers-Danlos syndrome without the characteristic facial features: a case report.
Inokuchi R, Kurata H, Endo K, Kitsuta Y, Nakajima S, Hatamochi A, Yahagi N
Medicine (Baltimore) 2014 Dec;93(28):e291. doi: 10.1097/MD.0000000000000291. PMID: 25526469Free PMC Article
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations.
Kosho T, Miyake N, Hatamochi A, Takahashi J, Kato H, Miyahara T, Igawa Y, Yasui H, Ishida T, Ono K, Kosuda T, Inoue A, Kohyama M, Hattori T, Ohashi H, Nishimura G, Kawamura R, Wakui K, Fukushima Y, Matsumoto N
Am J Med Genet A 2010 Jun;152A(6):1333-46. doi: 10.1002/ajmg.a.33498. PMID: 20503305

Therapy

Ehlers-Danlos syndrome: correlation with headache disorders in a young woman.
Di Palma F, Cronin AH
J Headache Pain 2005 Dec;6(6):474-5. doi: 10.1007/s10194-005-0256-0. PMID: 16388346Free PMC Article

Prognosis

Craniofacial neurofibromatosis and tissue expansion: long-term results.
Singhal D, Chen YC, Seselgyte R, Chen PK, Chen YR
J Plast Reconstr Aesthet Surg 2012 Jul;65(7):956-9. Epub 2011 Dec 3 doi: 10.1016/j.bjps.2011.11.034. PMID: 22137975
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.
Kretz R, Bozorgmehr B, Kariminejad MH, Rohrbach M, Hausser I, Baumer A, Baumgartner M, Giunta C, Kariminejad A, Häberle J
J Inherit Metab Dis 2011 Jun;34(3):731-9. Epub 2011 Apr 13 doi: 10.1007/s10545-011-9319-3. PMID: 21487760
Facial aesthetic unit remodeling procedure for neurofibromatosis type 1 hemifacial hypertrophy: report on 33 consecutive adult patients.
Hivelin M, Wolkenstein P, Lepage C, Valeyrie-Allanore L, Meningaud JP, Lantieri L
Plast Reconstr Surg 2010 Apr;125(4):1197-1207. doi: 10.1097/PRS.0b013e3181d180e9. PMID: 20335870

Clinical prediction guides

Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients.
Colombi M, Dordoni C, Venturini M, Ciaccio C, Morlino S, Chiarelli N, Zanca A, Calzavara-Pinton P, Zoppi N, Castori M, Ritelli M
Clin Genet 2017 Dec;92(6):624-631. Epub 2017 Sep 4 doi: 10.1111/cge.13052. PMID: 28485813
Somatic mosaicism in B cells of a patient with autosomal dominant hyper IgE syndrome.
Alcántara-Montiel JC, Staines-Boone T, López-Herrera G, Berrón-Ruiz L, Borrego-Montoya CR, Santos-Argumedo L
Eur J Immunol 2016 Oct;46(10):2438-2443. Epub 2016 Aug 23 doi: 10.1002/eji.201546275. PMID: 27488252
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations.
Kosho T, Miyake N, Hatamochi A, Takahashi J, Kato H, Miyahara T, Igawa Y, Yasui H, Ishida T, Ono K, Kosuda T, Inoue A, Kohyama M, Hattori T, Ohashi H, Nishimura G, Kawamura R, Wakui K, Fukushima Y, Matsumoto N
Am J Med Genet A 2010 Jun;152A(6):1333-46. doi: 10.1002/ajmg.a.33498. PMID: 20503305
Facial aesthetic unit remodeling procedure for neurofibromatosis type 1 hemifacial hypertrophy: report on 33 consecutive adult patients.
Hivelin M, Wolkenstein P, Lepage C, Valeyrie-Allanore L, Meningaud JP, Lantieri L
Plast Reconstr Surg 2010 Apr;125(4):1197-1207. doi: 10.1097/PRS.0b013e3181d180e9. PMID: 20335870
A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.
Faiyaz-Ul-Haque M, Zaidi SH, Al-Ali M, Al-Mureikhi MS, Kennedy S, Al-Thani G, Tsui LC, Teebi AS
Am J Med Genet A 2004 Jul 1;128A(1):39-45. doi: 10.1002/ajmg.a.30005. PMID: 15211654

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