Skip to main content
SpringerLink
Log in

Hereditary Disorders of Collagen and Elastic Fibers

  • Living reference work entry
  • First Online:
Braun-Falco´s Dermatology

Abstract

Hereditary connective tissue diseases are a heterogeneous group of disorders in which mutations occur in genes coding for connective tissue proteins or for proteins involved in the synthesis of connective tissue proteins or influencing their homeostasis. As the connective tissue occurs ubiquitously in the body, the diseases result in a multitude of symptoms. The mutations often lead to changes in the biomechanical properties of the tissue, which can, for example, result in increased elasticity or altered resilience of the skin or increased fragility of skin, bones, or vessels.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution

Institutional subscriptions

References

  • Berk DR, Bentley DD, Bayliss SJ et al (2012) Cutis laxa: a review. J Am Acad Dermatol 66:842e1–842e17

    Article  Google Scholar 

  • Bidier M, Salz M, Meyburg J (2018) Restrictive dermopathy: four case reports and structural skin changes. Acta Derm Venereol 98(8):807–808

    Article  PubMed  Google Scholar 

  • Beighton P, De Paepe A, Steinmann B et al (1998) Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet 77:31–7

    Article  CAS  PubMed  Google Scholar 

  • Bowen JM, Sobey GJ, Burrows NP et al (2017) Ehlers-Danlos syndrome, classical type. Am J Med Genet C Semin Med Genet 175:27–39

    Article  PubMed  Google Scholar 

  • Brady AF, Demirdas S, Fournel-Gigleux S et al (2017) The Ehlers-Danlos syndromes, rare types. Am J Med Genet C Semin Med Genet 175:70–115

    Article  PubMed  Google Scholar 

  • Callewaert B, Malfait F, Loeys B et al (2008) Ehlers-Danlos syndromes and Marfan syndrome. Best Pract Res Clin Rheumatol 22:165–189

    Article  CAS  PubMed  Google Scholar 

  • Glaich AS, Martinelli PT, Markus RF et al (2005) Generalized elastolysis following nephrogenic fibrosing dermopathy. J Am Acad Dermatol 53:174–176

    Article  PubMed  Google Scholar 

  • Hofmann Bowman MA, Eagle KA, Milewicz DM (2019) Update on clinical trials of losartan with and without β-blockers to block aneurysm growth in patients with Marfan syndrome: a review. JAMA Cardiol. https://doi.org/10.1001/jamacardio.2019.1176

    Article  PubMed  Google Scholar 

  • Hosen MJ, Lamoen A, De Paepe A, Vanakker OM (2012) Histopathology of pseudoxanthoma elasticum and related disorders: histological hallmarks and diagnostic clues. Scientifica, 598262. https://doi.org/10.6064/2012/598262

    Article  Google Scholar 

  • Hu Q, Reymond JL, Pinel N, Zabot MT, Urban Z (2006) Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes. J Invest Dermatol 126:283–290

    Article  CAS  PubMed  Google Scholar 

  • Kodolitsch Y, De Backer J, Schüler H (2015) Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome. Appl Clin Genet 8:137–155

    Article  CAS  Google Scholar 

  • Lebwohl M, Lebwohl E, Bercovitch L (2003) Prominent mental (chin) crease: a new sign of pseudoxanthoma elasticum. J Am Acad Dermatol 48:620–622

    Article  PubMed  Google Scholar 

  • Li Q, van de Wetering K, Uitto J (2019) Pseudoxanthoma elasticum as a paradigm of heritable ectopic mineralization disorders. Pathomechanisms and treatment development. Am J Pathol 189(2):216–225

    Article  PubMed  PubMed Central  Google Scholar 

  • Liu T, McCalmont TH, Frieden IJ et al (2008) The stiff skin syndrome: case series, differential diagnosis of the stiff skin phenotype, and review of the literature. Arch Dermatol 144:1351–1359

    PubMed  Google Scholar 

  • Loeys BL (2015) Angiotensin receptor blockers: a panacea for Marfan syndrome and related disorders? Drug Discov Today 20:262–266

    Article  CAS  PubMed  Google Scholar 

  • Loeys BL, Gerber EE, Riegert-Johnson D (2010) Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. Sci Transl Med 2:23ra20

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Malfait F, Francomano C, Byers P et al (2017) The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet 175:8–26

    Article  PubMed  Google Scholar 

  • McKenna T, Sola Carvajal A, Eriksson M (2015) Skin disease in laminopathy-associated premature aging. J Invest Dermatol 135:2577–2583

    Article  CAS  PubMed  Google Scholar 

  • Ong KT, Perdu J, De Backer J et al (2010) Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomized, open, blinded-endpoints trial. Lancet 376:1476–1484

    Article  CAS  PubMed  Google Scholar 

  • Sanchez MR, Lee M, May JA et al (1993) Ascher syndrome: a mimicker of acquired angioedema. J Am Acad Dermatol 4:650–651

    Article  Google Scholar 

  • Steinmann B, Royce PM, Superti-Furga A (2002) The Ehlers-Danlos syndrome. In: Royce PM, Steinmann B (eds) Connective tissue and its heritable disorders, 2nd edn. Wiley-Liss, New York, pp 431–523

    Chapter  Google Scholar 

  • Uitto J, Jiang Q, Váradi A et al (2014) Pseudoxanthoma elasticum: diagnostic features, classification and treatment options. Expert Opin Orphan Drugs 2:567–577

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Urban Z (2012) The complexity of elastic fiber biogenesis: the paradigm of cutis laxa. J Invest Dermatol 132(E1):E12–E14

    Article  PubMed  Google Scholar 

  • Van Dijke FS, Sillence DO (2014) Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet Part A 164A:1470–1481

    Article  Google Scholar 

  • Wesche WA, Cutlan RT, Khare V et al (2001) Restrictive dermopathy: report of a case and review of the literature. J Cutan Pathol 28:211–218

    Article  CAS  PubMed  Google Scholar 

First Describer

  • Antoine T (1929) Ein Fall von allgemeiner, angeborener Hautatrophie. Monatsschr Geburtshilfe Gynaekol 81:276–283

    Google Scholar 

  • Ascher KW (1920) Blepharochalasis mit Struma und Doppellippe. Klin Monatsbl Augenheilkd 65:86–97

    Google Scholar 

  • Beals RK, Hecht F (1971) Congenital contractural arachnodactyly. A heritable disorder of connective tissue. J Bone Joint Surg Am 53:987

    Article  CAS  PubMed  Google Scholar 

  • Chernogubow NA (1892) About a Case of Cutis laxa (Presentation at the first meeting of the Dermatologic and Venerologic Society, Nov 13, 1891) Monthly booklets for Practical Dermatology Hamburg 14:76

    Google Scholar 

  • Christensen OB (1978) An exogenous variety of pseudoxanthoma elasticum in old farmers. Acta Derm Venereol 58:319–321

    CAS  PubMed  Google Scholar 

  • Danlos M (1908) Un cas de cutis laxa avec tumeurs par contusion chronique des coudes et des genoux (xanthome juvénile pseudo-diabétique de MM Hallopeau et Macé de Lépinay). Bull Soc Fr Dermatol Syphiligr 19:70–72

    Google Scholar 

  • Darier J (1896) Pseudoxanthoma elasticum. Dem dritten Internationalen Dermatologischen Kongress (London, August 1896) überreicht. Monatsschr Prakt Dermatol 23:609–616

    Google Scholar 

  • Ehlers E (1901) Cutis laxa. Neigung zu Hämorrhagien in der Haut, Lockerung mehrerer Artikulationen. Dermatol Z 8:173–174

    Google Scholar 

  • Ekman OJ (1788) Descriptionem et casus aliquot osteomalaciae sistens. Dissertatio medica, Edman, Uppsaliae

    Google Scholar 

  • Esterly NB, McKusick VA (1971) Stiff skin syndrome. Pediatrics 47:360–369

    CAS  PubMed  Google Scholar 

  • Graf (1836) Örtliche Erschlaffung der Haut. Wochensch Ges Heilkd 15:225–230

    Google Scholar 

  • Grönblad E (1933) Pseudoxanthoma elasticum and changes in the eye. Acta Derm Venereol 13:417–422

    Google Scholar 

  • Laffer WB (1909) Blepharochalasis. Report of a case of this trophoneurosis, involving also the upper lip. Cleve Med J 8:131–135

    Google Scholar 

  • Loeys BL, Chen J, Neptune ER (2005) A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 37:275–281

    Article  CAS  PubMed  Google Scholar 

  • Marfan AB (1896) Un cas de déformation congénitale des quatre membres, plus prononcées aux extrémitiés, caractérée par l'allongement des os avec un certain degré d’aminnicissement. Bull Soc Med Hop (Paris) 13:220–226

    Google Scholar 

  • van Meekeren JJ (1682) Observationes medico-chirurgicae. Ex belgico in latinum translatae ab Abrahamo Blasio. Henrici & Viduae Theodori Boom, Amstelodami. Chapter 32

    Google Scholar 

  • Sartorius CF (1826) Rhachitidis congenitae observations cum tabulis tribus aeri incisis. Staritz, Lipsiae (Medizinische Doktorarbeit aus der Universität Leipzig)

    Google Scholar 

  • Steinberg JC (1966) A simple screening test for the Marfan syndrome. Am J Roentgenol Radium Ther Nucl Med 97:118–124

    Article  CAS  PubMed  Google Scholar 

  • Strandberg J (1929) Pseudoxanthoma elasticum. Central Skin Disease 31:689

    Google Scholar 

  • Vrolik W (1849) Tabulae ad illustrandam embryogenesin hominis et mammalium, tam naturalem quam abnormem. Londonck, Amstelodami

    Google Scholar 

  • Walker BA, Beighton PH, Murdoch PL (1969) The Marfanoid hypermobility syndrome. Ann Intern Med 71:349–352

    Article  CAS  PubMed  Google Scholar 

  • Witt DR, Hayden MR, Holbrook KA et al (1986) Restrictive dermopathy: a newly recognized autosomal skin dysplasia. Am J Hum Genet 24:631–648

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Dermatology, University of Lübeck, Lübeck, Germany

    Jürgen Brinckmann

Authors
  1. Jürgen Brinckmann
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Jürgen Brinckmann .

Editor information

Editors and Affiliations

  1. Department of Dermatology, University of Munich, Munich, Germany

    Gerd Plewig

  2. Department of Dermatology, University of Munich, Munich, Germany

    Lars French

  3. Department of Dermatology, University of Munich, Munich, Germany

    Thomas Ruzicka

  4. Department of Dermatology, Venerology and Allergology, Frankfurt University Hospital, Frankfurt, Germany

    Roland Kaufmann

  5. Clinic for Dermatology and Allergology, University of Marburg, Marburg, Germany

    Michael Hertl

Section Editor information

  1. Clinic for Dermatology and Allergology, University of Marburg, Marburg, Germany

    Michael Hertl

Rights and permissions

Reprints and permissions

Copyright information

© 2020 Springer-Verlag GmbH Germany, part of Springer Nature

About this entry

Check for updates. Verify currency and authenticity via CrossMark

Cite this entry

Brinckmann, J. (2020). Hereditary Disorders of Collagen and Elastic Fibers. In: Plewig, G., French, L., Ruzicka, T., Kaufmann, R., Hertl, M. (eds) Braun-Falco´s Dermatology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-58713-3_51-1

Download citation

  • DOI: https://doi.org/10.1007/978-3-662-58713-3_51-1

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-58713-3

  • Online ISBN: 978-3-662-58713-3

  • eBook Packages: Springer Reference MedicineReference Module Medicine

Publish with us

Policies and ethics

Search

Navigation