Ehlers-Danlos Syndrome Questions & Answers

1. Castori M, Hakim A. Contemporary approach to joint hypermobility and related disorders. Curr Opin Pediatr. 2017 Dec. 29 (6):640-649. [QxMD MEDLINE Link].

2. Junkiert-Czarnecka A, Pilarska-Deltow M, Bąk A, Heise M, Haus O. New variants in COL5A1 gene among Polish patients with Ehlers-Danlos syndrome: analysis of nine cases. Postepy Dermatol Alergol. 2019 Feb. 36 (1):29-33. [QxMD MEDLINE Link].

3. Hamonet C, Frédy D, Lefèvre JH, Bourgeois-Gironde S, Zeitoun JD. Brain injury unmasking Ehlers-Danlos syndromes after trauma: the fiber print. Orphanet J Rare Dis. 2016 Apr 22. 11:45. [QxMD MEDLINE Link].

4. Umekoji A, Fukai K, Hosomi N, Ishii M, Tanaka A, Murakami K, et al. Vascular type of Ehlers-Danlos syndrome associated with mild haemophilia A. Clin Exp Dermatol. 2009 Jan. 34 (1):101. [QxMD MEDLINE Link].

5. Leganger J, Fonnes S, Kulas Søborg ML, et al. The most common comorbidities in patients with Ehlers-Danlos syndrome: a 15-year nationwide population-based cohort study. Disabil Rehabil. 2022 Jan. 44 (2):189-193. [QxMD MEDLINE Link].

6. 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 Rehabil. 2011 Jul. 92 (7):1106-12. [QxMD MEDLINE Link].

7. Kitagawa T, Matsui N, Nakaizumi D. Structured Rehabilitation Program for Multidirectional Shoulder Instability in a Patient with Ehlers-Danlos Syndrome. Case Rep Orthop. 2020. 2020:8507929. [QxMD MEDLINE Link].

8. Reina-Bueno M, Vázquez-Bautista C, Palomo-Toucedo IC, Domínguez-Maldonado G, Castillo-López JM, Munuera-Martínez PV. Custom-Made Foot Orthoses Reduce Pain and Fatigue in Patients with Ehlers-Danlos Syndrome. A Pilot Study. Int J Environ Res Public Health. 2020 Feb 20. 17 (4):[QxMD MEDLINE Link].

9. Grahame R. The multisystemic nature and natural history of joint hypermobility syndrome and Ehlers-Danlos syndrome in children: New research data conflict with widely held views. Rheumatology (Oxford). 2017 Dec 1. 56 (12):2048-2049. [QxMD MEDLINE Link].

10. Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-Seebacher I, et al. The Ehlers-Danlos syndromes, rare types. Am J Med Genet C Semin Med Genet. 2017 Mar. 175 (1):70-115. [QxMD MEDLINE Link].

11. Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, et al. Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet. 2017 Mar. 175 (1):40-47. [QxMD MEDLINE Link].

12. Eder J, Laccone F, Rohrbach M, Giunta C, Aumayr K, Reichel C, et al. A new COL3A1 mutation in Ehlers-Danlos syndrome type IV. Exp Dermatol. 2013 Mar. 22 (3):231-4. [QxMD MEDLINE Link].

13. Ghali N, Baker D, Brady AF, Burrows N, Cervi E, Cilliers D, et al. Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility. Genet Med. 2019 Mar 6. [QxMD MEDLINE Link].

14. Schwarze U, Atkinson M, Hoffman GG, Greenspan DS, Byers PH. Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II). Am J Hum Genet. 2000 Jun. 66 (6):1757-65. [QxMD MEDLINE Link].

15. Bouma P, Cabral WA, Cole WG, Marini JC. COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II. J Biol Chem. 2001 Apr 20. 276 (16):13356-64. [QxMD MEDLINE Link].

16. Wenstrup RJ, Florer JB, Willing MC, Giunta C, Steinmann B, Young F, et al. COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS. Am J Hum Genet. 2000 Jun. 66 (6):1766-76. [QxMD MEDLINE Link].

17. Sun M, Connizzo BK, Adams SM, Freedman BR, Wenstrup RJ, Soslowsky LJ, et al. Targeted deletion of collagen V in tendons and ligaments results in a classic Ehlers-Danlos syndrome joint phenotype. Am J Pathol. 2015 May. 185 (5):1436-47. [QxMD MEDLINE Link].

18. Yeowell HN, Walker LC. Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI. Mol Genet Metab. 2000 Sep-Oct. 71 (1-2):212-24. [QxMD MEDLINE Link].

19. Schalkwijk J, Zweers MC, Steijlen PM, Dean WB, Taylor G, van Vlijmen IM, et al. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. N Engl J Med. 2001 Oct 18. 345 (16):1167-75. [QxMD MEDLINE Link].

20. Boudko SP, Engel J, Okuyama K, Mizuno K, Bächinger HP, Schumacher MA. Crystal structure of human type III collagen Gly991-Gly1032 cystine knot-containing peptide shows both 7/2 and 10/3 triple helical symmetries. J Biol Chem. 2008 Nov 21. 283 (47):32580-9. [QxMD MEDLINE Link].

21. Okamoto O, Ando T, Watanabe A, Sato F, Mimata H, Shimada T, et al. A novel point mutation in type III collagen gene resulting in exon 24 skipping in a case of vascular type Ehlers-Danlos syndrome. Arch Dermatol Res. 2008 Oct. 300 (9):525-9. [QxMD MEDLINE Link].

22. Viglio S, Zoppi N, Sangalli A, Gallanti A, Barlati S, Mottes M, et al. Wound repair capability in EDS fibroblasts can be retrieved by exogenous type V collagen. ScientificWorldJournal. 2008 Oct 3. 8:956-8. [QxMD MEDLINE Link].

23. Kuz'mina NS, Shipaeva EV, Semyachkina AN, Vasil'eva IM, Kovalenko LP, Durnev AD, et al. Polymorphism of detoxification genes and cell resistance to mutagens in patients with Ehlers-Danlos syndrome. Bull Exp Biol Med. 2007 Nov. 144 (5):717-21. [QxMD MEDLINE Link].

24. Murray ML, Yang M, Fauth C, Byers PH. FKBP14-related Ehlers-Danlos syndrome: expansion of the phenotype to include vascular complications. Am J Med Genet A. 2014 Jul. 164A (7):1750-5. [QxMD MEDLINE Link].

25. Bethea BT, Fitton TP, Alejo DE, Barreiro CJ, Cattaneo SM, Dietz HC, et al. Results of aortic valve-sparing operations: experience with remodeling and reimplantation procedures in 65 patients. Ann Thorac Surg. 2004 Sep. 78 (3):767-72; discussion 767-72. [QxMD MEDLINE Link].

26. Remvig L, Flycht L, Christensen KB, Juul-Kristensen B. Lack of consensus on tests and criteria for generalized joint hypermobility, Ehlers-Danlos syndrome: hypermobile type and joint hypermobility syndrome. Am J Med Genet A. 2014 Mar. 164A (3):591-6. [QxMD MEDLINE Link].

27. Castori M, Dordoni C, Morlino S, Sperduti I, Ritelli M, Valiante M, et al. Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. Am J Med Genet C Semin Med Genet. 2015 Mar. 169C (1):43-53. [QxMD MEDLINE Link].

28. Scheper MC, Nicholson LL, Adams RD, Tofts L, Pacey V. The natural history of children with joint hypermobility syndrome and Ehlers-Danlos hypermobility type: a longitudinal cohort study. Rheumatology (Oxford). 2017 Apr 18. [QxMD MEDLINE Link].

29. Yassin OM, Rihani FB. Multiple developmental dental anomalies and hypermobility type Ehlers-Danlos syndrome. J Clin Pediatr Dent. 2006 Summer. 30 (4):337-41. [QxMD MEDLINE Link].

30. Kapferer-Seebacher I, Oakley-Hannibal E, Lepperdinger U, Johnson D, Ghali N, Brady AF, et al. Prospective clinical investigations of children with periodontal Ehlers-Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature. Genet Med. 2021 Feb. 23 (2):316-322. [QxMD MEDLINE Link].

31. Cortés-Bretón Brinkmann J, García-Gil I, Lobato-Peña DM, Martínez-Mera C, Suárez-García MJ, Martínez-González JM, et al. The key role of the dental practitioner in early diagnosis of periodontal Ehlers-Danlos syndromes: a rare case report of siblings. Quintessence Int. 2021. 52 (2):166-174. [QxMD MEDLINE Link].

32. van Bon AC, Kristinsson JO, van Krieken JH, Wanten GJ. Concurrent splenic peliosis and vascular Ehlers-Danlos syndrome. Ann Vasc Surg. 2009 Mar. 23 (2):256.e1-4. [QxMD MEDLINE Link].

33. Guala A, Viglio S, Ottinetti A, Angeli G, Canova G, Colombo E, et al. Cutaneous metaplastic synovial cyst in Ehlers-Danlos syndrome: report of a second case. Am J Dermatopathol. 2008 Feb. 30 (1):59-61. [QxMD MEDLINE Link].

34. Vilisaar J, Harikrishnan S, Suri M, Constantinescu CS. Ehlers-Danlos syndrome and multiple sclerosis: a possible association. Mult Scler. 2008 May. 14 (4):567-70. [QxMD MEDLINE Link].

35. Perrinaud A, Matos M, Maruani A, Mondon K, Machet L. [Absence of inferior labial or lingual frenula in Ehlers-Danlos syndrome: a new diagnostic criterion?]. Ann Dermatol Venereol. 2007 Nov. 134 (11):859-62. [QxMD MEDLINE Link].

36. Baba CS, Sharma PK, Deo V, Pal S, Sethuraman G, Gupta SD, et al. Association of Ehlers-Danlos syndrome and solitary rectal ulcer syndrome. Indian J Gastroenterol. 2007 May-Jun. 26 (3):149-50. [QxMD MEDLINE Link].

37. Savasta S, Crispino M, Valli M, Calligaro A, Zambelloni C, Poggiani C. Subependymal periventricular heterotopias in a patient with ehlers-danlos syndrome: a new case. J Child Neurol. 2007 Mar. 22 (3):317-20. [QxMD MEDLINE Link].

38. Miles SC, Robinson PD, Miles JL. Ehlers–Danlos syndrome and anorexia nervosa: a dangerous combination?. Pediatr Dermatol. 2007 May-Jun. 24 (3):E1-4. [QxMD MEDLINE Link].

39. Kundu AK, Chattopadhyay P, Kundu S, Choudhury S. Pregnancy in Ehlers-Danlos syndrome. J Assoc Physicians India. 2006 Dec. 54:938. [QxMD MEDLINE Link].

40. Spiegel E, Nicholls-Dempsey L, Czuzoj-Shulman N, Abenhaim HA. Pregnancy outcomes in women with Ehlers-Danlos Syndrome. J Matern Fetal Neonatal Med. 2022 May. 35 (9):1683-1689. [QxMD MEDLINE Link].

41. Cortini F, Villa C, Marinelli B, Combi R, Pesatori AC, Bassotti A. Understanding the basis of Ehlers-Danlos syndrome in the era of the next-generation sequencing. Arch Dermatol Res. 2019 Mar 2. [QxMD MEDLINE Link].

42. Atzinger CL, Meyer RA, Khoury PR, Gao Z, Tinkle BT. Cross-sectional and longitudinal assessment of aortic root dilation and valvular anomalies in hypermobile and classic Ehlers-Danlos syndrome. J Pediatr. 2011 May. 158 (5):826-830.e1. [QxMD MEDLINE Link].

43. Dordoni C, Ritelli M, Venturini M, Chiarelli N, Pezzani L, Vascellaro A, et al. Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type. Am J Med Genet A. 2013 May. 161A (5):1143-7. [QxMD MEDLINE Link].

44. Ayoub S, Ghali N, Angwin C, Baker D, Baffini S, Brady AF, et al. Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome. Am J Med Genet A. 2020 Feb 24. [QxMD MEDLINE Link].

45. Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar. 175 (1):8-26. [QxMD MEDLINE Link].

46. Castori M, Tinkle B, Levy H, Grahame R, Malfait F, Hakim A. A framework for the classification of joint hypermobility and related conditions. Am J Med Genet C Semin Med Genet. 2017 Mar. 175 (1):148-157. [QxMD MEDLINE Link].

47. Sinibaldi L, Ursini G, Castori M. Psychopathological manifestations of joint hypermobility and joint hypermobility syndrome/ Ehlers-Danlos syndrome, hypermobility type: The link between connective tissue and psychological distress revised. Am J Med Genet C Semin Med Genet. 2015 Mar. 169C (1):97-106. [QxMD MEDLINE Link].

48. Aalberts JJ, van den Berg MP, Bergman JE, du Marchie Sarvaas GJ, Post JG, van Unen H, et al. The many faces of aggressive aortic pathology: Loeys-Dietz syndrome. Neth Heart J. 2008 Sep. 16 (9):299-304. [QxMD MEDLINE Link].

49. Castori M. Ehlers-Danlos syndrome(s) mimicking child abuse: Is there an impact on clinical practice?. Am J Med Genet A. 2016 May 5. [QxMD MEDLINE Link].

50. Ritelli M, Morlino S, Giacopuzzi E, Bernardini L, Torres B, Santoro G, et al. A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations. Clin Genet. 2018 Jan. 93 (1):126-133. [QxMD MEDLINE Link].

51. Yang F, Yang RJ, Li Q, et al. Whole-exome sequencing facilitates the differential diagnosis of Ehlers-Danlos syndrome (EDS). Mol Genet Genomic Med. 2022 Mar. 10 (3):e1885. [QxMD MEDLINE Link]. [Full Text].

52. Alkadhi H, Wildermuth S, Desbiolles L, Schertler T, Crook D, Marincek B, et al. Vascular emergencies of the thorax after blunt and iatrogenic trauma: multi-detector row CT and three-dimensional imaging. Radiographics. 2004 Sep-Oct. 24 (5):1239-55. [QxMD MEDLINE Link].

53. Monroe GR, Harakalova M, van der Crabben SN, Majoor-Krakauer D, Bertoli-Avella AM, Moll FL, et al. Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1. Am J Med Genet A. 2015 Jun. 167 (6):1196-203. [QxMD MEDLINE Link].

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Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Professor of Pediatrics, Professor of Medicine, Rutgers New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, New York Academy of Medicine, Royal College of Physicians of Edinburgh, Sigma Xi, The Scientific Research Honor Society

Disclosure: Nothing to disclose.

Enrico Ceccolini, MD Consulting Staff, Department of Dermatology, University of Bologna; Private Practice, Pesaro, Italy

Enrico Ceccolini, MD is a member of the following medical societies: American Academy of Dermatology, International Society of Dermatology, Society for Pediatric Dermatology

Disclosure: Nothing to disclose.

David F Butler, MD Former Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, Association of Military Dermatologists, Phi Beta Kappa, Texas Dermatological Society

Disclosure: Nothing to disclose.

Warren R Heymann, MD Head, Division of Dermatology, Professor, Department of Internal Medicine, Rutgers New Jersey Medical School

Warren R Heymann, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Noah S Scheinfeld, JD, MD, FAAD † Assistant Clinical Professor, Department of Dermatology, Weil Cornell Medical College; Consulting Staff, Department of Dermatology, St Luke's Roosevelt Hospital Center, Beth Israel Medical Center, New York Eye and Ear Infirmary; Assistant Attending Dermatologist, New York Presbyterian Hospital; Assistant Attending Dermatologist, Lenox Hill Hospital, North Shore-LIJ Health System; Private Practice

Noah S Scheinfeld, JD, MD, FAAD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

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