Clinical Characteristics and Comorbidities of Hereditary Hemorrhagic Telangiectasia / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: Hereditary hemorrhagic telangiectasia (HHT), often manifested as epistaxis, is also manifested in combination with serious comorbid diseases. The authors reviewed 12 cases of HHT and investigated the manifestations and comorbid diseases of HHT in the Korean population. SUBJECTS AND METHOD: Medical records of the HHT patients in our department from July 2004 to December 2011 were reviewed retrospectively. Twelve patients who had been classified as definite or possible HHT according to the Curacao criteria were enrolled in this study. Clinical manifestations, treatment methods, results, and comorbid diseases were investigated. RESULTS: Recurrent epistaxis occurred in 100% of the patients. Epistaxis was managed by bipolar or laser cauterization (n=9), embolization of the feeding vessel (n=1), intranasal application of bevacizumab (Avastin(R))(n=2) or septodermoplasty (n=1). The symptoms of seven patients showed much improvement while the other two did not. Comorbid diseases included pulmonary arteriovenous malformation (AVM) in 5 patients (41.7%) and cerebral AVM in 2 patients (16.7%). Three patients with pulmonary AVM received embolization and one patient with cerebral AVM received gamma knife surgery with good prognosis. CONCLUSION: Epistaxis by HHT can be improved by active treatment using various methods. Pulmonary and cerebral AVMs are common comorbid diseases and should be considered in the management of HHT.

A Case of Schwannoma of the Mouth Floor Mistaken as a Ranula / 대한이비인후과학회지

Schwannoma is a relatively slow-growing, encapsulated benign tumor that is derived from the Schwann cell of the nerve sheath. We report here on a case of schwannoma of the mouth floor with a review of the literature. A 67-year-old woman presented with a right mouth floor mass, which was first detected 5 years ago. The preoperative diagnosis was ranula on the basis of the physical findings and the computerized tomographic findings. However, the mass was found to be a true neoplastic lesion rather than a cystic lesion in the course of surgical dissection. The permanent pathologic report of the mass was schwannoma. Postoperatively, although the patient had no problem with taste, the pain-sense, speech and swallowing, she had mild deviation of the tongue towards the same side of the mass, which means that the function of the hypoglossal nerve was somewhat impaired. Her tongue deviation was spontaneously resolved within 6 weeks postoperatively.