Klippel Trenaunay (KT) syndrome is a rare, sporadic, congenital vascular disease of unknown etiology. We describe a 45 year old male patient with KT syndrome presenting with exertional dyspnea, interstitial infiltrates, and severe restriction due to metastatic malignant melanoma from an unknown primary.
A 45-year-old white male was seen in the clinic for increasing dyspnea for the last 6 months. He had history of KT syndrome and had resection of a large left neck and shoulder cystic hygroma at the age of 10 days followed by radiation therapy when he was 4 years old. Two years back, he had a basal cell carcinoma removed from the left scapular region.The patient had been well until 6 months ago, when he started feeling shortness of breath on exertion. He was unable to exercise the same way he used to do. During the next several weeks, the dyspnea progressed over the next several weeks and was accompanied by non-productive cough or low-grade fever. He denied weight loss, night sweats, chest pain, hemoptysis, and lower extremity edema. He had been treated with Azithromycin, Levaquin, and a 2 weeks course of Itraconazole and prednisone with minimal improvement. There was no history of asthma, chronic bronchitis, smoking, or use of oxygen at home.The temperature was 37.2°C, the pulse was 100, and the respirations were 20 with 94% oxygen saturation on room air. The blood pressure was 100/60 mm Hg. General physical examination revealed extensive skeletal deformities with hard swelling at the posterior aspect of the left scapula. Chest auscultation revealed bibasilar crackles with no wheezes or pleural rub.X-ray chest showed bilateral extensive reticulonodular infiltrates. There was a left apical pleural thickening with loss of volume in the left upper lung. There was deformity/erosion of the left scapula at the region of the glenoid fossa. Computed tomographic (CT) examination of the chest revealed bilateral reticulo-nodular infiltrates more prominent in the mid-lower lung zone. No lymphadenopathy or pleural deformities were noted.Spirometry revealed severe restriction with FVC of 1.75 (45% predicted) and FEV1 of 1.05(48% predicted) which was a significant change from previous spirometry performed 2 years ago, when FVC was 3.15 (81% predicted) and FEV1 of 2.59 (78% predicted).Bronchoscopy was performed which revealed normal airways and no endobronchial lesions. Bronchoalveolar lavage and transbronchial biopsies from the right lung were obtained. Microscopical examination of the specimen revealed large epitheloid cells with eosinophilic cytoplasm and nuclei with scattered intranuclear inclusions. Immunohistochemical studies revealed these cells are immunoreactive to S-100 and focally immunoreactiveto HMB-45. This pattern was felt to be metastatic malignant melanoma of the lung.DISCUSSION: To our knowledge, this is the first report of a metastatic malignant melanoma presenting as an interstitial lung disease with severe restriction. Malignant melanoma most commonly presents as a primary neoplasm of the skin but has been described in such mucosal sites as the oral cavity, esophagus, larynx, vagina, and anorectal region. Primary malignant melanoma arising in the lung has been described but is a rare entity. Malignant melanomas arising in extra-pulmonary sites may metastasize to the lungs with the most common manifestations being solitary or multiple pulmonary nodules. The present case revealed no evidence of an extrapulmonary primary melanoma during the clinical examination and there was no past history of melanoma. Spontaneous regression of the skin melanomas after regional lymph node metastases have been occurred and is well documented and it is possible in our case.
We report the first case of metastatic malignant melanoma presenting as diffuse reticulonodular infiltrates on chest radiographs and a severe restrictive ventilatory defect on spirometry.
M.M. Mughal, None.