Ehlers-Danlos syndrome with recurrent spontaneous pneumothoraces and cavitary lesion on chest x-ray as the initial complications

Internal Medicine

Volumn 48, Issue 9, 2009, Pages 717-722

  Ishiguro, Takashi ^a   Takayanagi, Noboru ^a   Kawabata, Yoshinori ^b   Matsushima, Hidekazu ^a   Yoshii, Yutaka ^a   Harasawa, Keiji ^a   Yamaguchi, Shozaburo ^a   Yoneda, Koichiro ^a   Miyahara, Yousuke ^a   Kagiyama, Naho ^a   Tokunaga, Daido ^a   Aoki, Fumiaki ^a   Saito, Hiroo ^a   Kurashima, Kazuyoshi ^a   Ubukata, Mikio ^a   Yanagisawa, Tsutomu ^a   Sugita, Yutaka ^a   Okita, Hiroshi ^c   Hatamochi, Atsushi ^c  

^a Saitama Cardiovascular and Respiratory Center ^*  (Japan)

^b Saitama Prefecture Cardiovascular and Respiratory Center   (Japan)

^c DOKKYO MEDICAL UNIVERSITY   (Japan)

Author keywords

Ehlers Danlos syndrome; Lung; Pneumothorax; Vascular type

Indexed keywords

COLLAGEN TYPE 3;

ADOLESCENT; ANEURYSM; ARTICLE; CASE REPORT; EHLERS DANLOS SYNDROME; ENDOSCOPIC SURGERY; FOLLOW UP; HEMATOMA; HEMOPTYSIS; HEMOSIDEROSIS; HUMAN; LUNG CAVITY; LUNG NODULE; MALE; OUTPATIENT CARE; POINT MUTATION; RECURRENT DISEASE; SPONTANEOUS PNEUMOTHORAX; THORACOTOMY; THORAX RADIOGRAPHY; THORAX SURGERY;

ADOLESCENT; EHLERS-DANLOS SYNDROME; HUMANS; LUNG DISEASES; MALE; PNEUMOTHORAX; RECURRENCE;

EID: 67650064545     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.48.1818     Document Type: Article

References (12)

1. Abel MD, Carrasco LR. Ehlers-Danlos syndrome: classifications, oral manifestations, and dental considerations. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 102: 582-590, 2006.
2. Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med 342: 673-680, 2000 (Erratum in: N Engl J Med 343: 366-368, 2000).
3. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet 88: 31-37, 1998.
4. Oderich GS, Panneton JM, Bower TC, Lindor NM, Cherry KJ, Noel AA, Kaira M, Sullivan T, Gloviczki P. The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience. J Vasc Surg 42: 98-106, 2005.
5. Germain DP. Clinical and genetic features of vascular Ehlers-Danlos syndrome. Ann Vasc Surg 16: 391-397, 2002.
6. Clark JG, Kuhn C 3rd, Uitto J. Lung collagen in type IV Ehlers-Danlos syndrome: ultrastructural and biochemical studies. Am Rev Respir Dis 122: 971-978, 1980.
7. Yost BA, Vogelsang JP, Lie JT. Fatal hemoptysis in Ehlers-Danlos syndrome. Old malady with a new curse. Chest 107: 1465-1467, 1995.
8. Smit J, Alberts C, Balk AG. Pneumothorax in the Ehlers-Danlos syndrome: consequence of coincidence? Scand J Respir Dis 59: 239-242, 1978.
9. Herman TE, McAlister WH. Cavitary pulmonary lesions in type IV Ehlers-Danlos syndrome. Pediatr Radiol 24: 263-265, 1994.
10. Corrin B, Simpson CG, Fisher C. Fibrous pseudotumours and cyst formation in the lungs in Ehlers-Danlos syndrome. Histopathology 1990 17: 478-479, 1990.
11. Watanabe A, Kawabata Y, Okada O, et al. Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene. Eur Respir J 19: 195-198, 2002,
12. Sareli AE, Janssen WJ, Sterman D, Saint S, Pyeritz RE. Clinical problem-solving. What's the connection? -A 26-year-old white man presented to our referral hospital with a 1-month history of persistent cough productive of white sputum, which was occasionally tinged with blood. N Engl J Med 358: 626-632, 2008.