J Korean Soc Radiol.  2012 Nov;67(5):367-370. 10.3348/jksr.2012.67.5.367.

An Isolated Pulmonary Hematoma Mimicking a Lung Tumor as the Initial Finding of Vascular Ehlers-Danlos Syndrome

• Kang EJ
• Lee KN
• Choi PJ
• Ki CS

• KMID: 1819751
• DOI: http://doi.org/10.3348/jksr.2012.67.5.367

Abstract

The vascular type of Ehlers-Danlos syndrome (vEDS) is an uncommon inherited disorder characterized by abnormalities in type III collagen, presenting itself as arterial dissection or rupture. We report a case of an isolated pulmonary hematoma mimicking a lung tumor in an 18-year-old man which turned out to be the initial finding of vEDS. Pneumothorax and hemothorax occurred repeatedly for 15 months following the surgical removal of the mass, and were treated by repeated left upper and lower lobectomy and thoracotomy. The diagnosis of vEDS was confirmed by pathologic and genetic studies.

MeSH Terms

Adolescent
Collagen Type III
Ehlers-Danlos Syndrome
Hematoma
Hemothorax
Humans
Lung
Pneumothorax
Rupture
Thoracotomy
Collagen Type III

Figure

• 

  Fig. 1 Sequential chest radiograph and CT images of an 18-year-old man with vascular Ehlers-Danlos syndrome. A. Chest radiograph shows a well-defined mass in the medial aspect of the left upper lung zone. B. Chest computed tomography (CT) demonstrates a well-defined, non-enhancing mass of relatively high attenuation (about 75 Hounsfield units) in the left upper lobe. C-E. Chest radiograph and CT obtained six months later. The chest radiograph reveals a left-sided pneumothorax (C). A chest tube was inserted, and chest CT shows a huge cavity with internal air-hemorrhage level in the left lower lobe and a small cavity surrounded by patchy ground glass opacity in the left upper lobe (D, E). F. Direct sequencing analysis in the patient demonstrates a heterozygous variation (c.899G > A) resulting in a p.Gly300Asp mutation in the COL3A1 gene. G, H. Chest radiograph and CT obtained thirteen months after the initial presentation. A large hematoma with surrounding hemorrhage is detected on chest radiography (G). The chest CT scan shows small air cavities in the large hematoma and a small amount of pneumothorax (H).

Reference

1. Watanabe A, Shimada T. Vascular type of Ehlers-Danlos syndrome. J Nippon Med Sch. 2008. 75:254–261.

2. Abel MD, Carrasco LR. Ehlers-Danlos syndrome: classifications, oral manifestations, and dental considerations. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006. 102:582–590.

3. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Ehlers-Danlos syndromes: revised nosology, Villefranche,1997. Am J Med Genet. 1998. 77:31–33.

4. Germain DP. Clinical and genetic features of vascular Ehlers-Danlos syndrome. Ann Vasc Surg. 2002. 16:391–397.

5. 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. 2000. 342:673–680.

6. Selim B, Lane CR, Rubinowitz AN, Siner JM. Spontaneous hemothorax and recurrent hemoptysis in a 26-year-old man with skin lesions. Chest. 2010. 137:480–483.

7. Herman TE, McAlister WH. Cavitary pulmonary lesions in type IV Ehlers-Danlos syndrome. Pediatr Radiol. 1994. 24:263–265.

8. Ishiguro T, Takayanagi N, Kawabata Y, Matsushima H, Yoshii Y, Harasawa K, et al. Ehlers-Danlos syndrome with recurrent spontaneous pneumothoraces and cavitary lesion on chest X-ray as the initial complications. Intern Med. 2009. 48:717–722.

9. Dimsdale JE, Nelesen RA. French-horn hypertension. N Engl J Med. 1995. 333:326–327.

10. Sykes EM Jr. Colon perforation in Ehlers-Danlos syndrome. Report of two cases and review of the literature. Am J Surg. 1984. 147:410–441.

11. Oderich GS, Panneton JM, Bower TC, Lindor NM, Cherry KJ, Noel AA, et al. The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience. J Vasc Surg. 2005. 42:98–106.