Ehlers–Danlos Syndrome in an Adult Woman: A Hidden Syndrome
  • Diana Spinelli
    Specialty of Internal Medicine, University of Milan, Foundation IRCCS Ca' Granda, Milan, Italy
  • Francesca Minonzio
    Department of Medicine and Medical Sciences, Foundation IRCCS Ca' Granda, Milan, Italy
  • Alessandra Bassotti
    Department of Clinical Sciences and Community Health, Foundation IRCCS Ca' Granda, Milan, Italy
  • Cinzia Hu
    Department of Clinical Sciences and Community Health, Foundation IRCCS Ca' Granda, Milan, Italy
  • Maria Domenica Cappellini
    Department of Medicine and Medical Sciences, Specialty of Internal Medicine, Department of Clinical Sciences and Community Health, University of Milan, Foundation IRCCS Ca’ Granda, Milan, Italy

Abstract

Ehlers–Danlos syndrome is a rare disease and a diagnostic challenge. This case report serves to remind the clinician that it is important to identify all affected patients in order to prevent complications.

VIEW THE ENTIRE ARTICLE

References

  • Wenstrup RJ, Meyer RA, Lyle JS, Hoechstetter L, Rose PS, Levy HP et al. Prevalence of aortic root dilation in the Ehlers-Danlos syndrome, Genet Med 2002;4:112–117.
  • Nuytinck L, Freund M, Lagae L, Pierard GE, Hermanns-Le T, De Paepe A. Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen, Am J Hum Genet 2000;66:1398–1402.
  • Cabral WA, Makareeva E, Colige A, Letocha AD, Ty JM, Yeowell HN et al. Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing, J Biol Chem 2005;280:19259–19269.
  • Karaa A, Stoler JM. Ehlers Danlos syndrome: an unusual presentation you need to know about, Case Rep Pediatr 2013;2013:764659
  • Rombaut L, Malfait F, De Wandele I, Cools A, Thijs Y, De Paepe A et al. Medication, surgery, and physiotherapy among patients with the hypermobility type of Ehlers-Danlos syndrome, Arch Phys Med Rehab 2011;92:1106–1112.
  • Klaassens M, Reinstein E, Hilhorst-Hofstee Y, Schrander JJ, Malfait F, Staal H et al. Ehlers-Danlos arthrochalasia type (VIIA-B): expanding the phenotype: from prenatal life through adulthood, Clin Genet 2012;82:121–130.
  • Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehers-Danlos Support Group (UK), Am J Med Genet 1998;77:31–37.
  • Malfait F, De Paepe A. The Ehlers-Danlos syndrome, Adv Exp Med Biol 2014;802:129–143.
  • Voermans NC, Knoop H, Bleijenberg G, van Engelen BG. Pain in Ehlers-Danlos syndrome is common, severe, and associated with functional impairment, J Pain Symptom Manage 2010;40:370–378.
  • Paepe A, Malfait F. The Ehlers-Danlos syndrome, a disorder with many faces, Clin Genet 2012;82:1–11.
  • Malfait F, Wenstrup RJ, De Paepe A. Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type, Genet Med 2010;12:597–605.
  • Malfait F, Wenstrup R, De Paepe A. Ehlers-Danlos syndrome, classic type, in GeneReviews™. Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. Seattle: University of Washington. 1993–2013. 2007 May 29 [updated 2011 Aug 18] [Internet].
  • Malfait F, De Paepe A. Molecular genetics in classic Ehlers–Danlos syndrome, Am J Med Genet C Semin Med Genet 2005;139C:17–23.
  • Fichard A, Chanut-Delalande H, Ruggiero F. The Ehlers-Danlos syndrome: the extracellular matrix scaffold in question, Med Sci (Paris) 2003;19:443–452.
  • Symoens S, Syx D, Malfait F, Callewaert B, De Backer J, Vanakker O et al. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria, Hum Mutat 2012;33:1485–1493.

    • Views: 2957
    HTML downloads: 27291
    PDF downloads: 1029
    Figure 1. Widened atrophic scarring and smooth and velvety skin, characterizing classical form EDS. downloads: 0

    Published: 2014-05-15
    Issue: Vol. 1 (2014) (view)

    How to cite:
    1.
    Spinelli D, Minonzio F, Bassotti A, Hu C, Cappellini MD. Ehlers–Danlos Syndrome in an Adult Woman: A Hidden Syndrome. EJCRIM 2014;1 doi:10.12890/2014_000063.

    Most read articles by the same author(s)