HRCT findings in the lungs of non-smokers with neurofibromatosis
Introduction
Neurofibromatosis (NF) type I, known also as von Recklinghausen's disease is a relatively common familial disorder with a prevalence of about 1 in 3000. It is an autosomal condition affecting the ectoderm and mesoderm characterized by collections of neurofibromas, café-au-lait spots and pigmented hamartomas in the iris (Lish nodules) [1]. NF has variable manifestations in the thorax and lungs including intrathoracic neurogenic tumors, meningoceles, kyphoscoliosis, ribbon deformity of the ribs, cutaneous and subcutaneous neurofibromas of the chest wall and interstitial lung disease (ILD) [2]. The association of neurofibromatosis with diffuse lung disease and severe bullous disease has been described, but its severity and prevalence remain obscure [2]. Moreover, interstitial lung disease as a consequence of neurofibromatosis was recently disputed; ILD has been completely attributed to smoking related changes rather than neurofibromatosis induced lung changes [2]. The purpose of this study was to describe the HRCT findings of lung involvement in never-smokers with neurofibromatosis type I.
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Materials and methods
Six of 7 patients with type I neurofibromatosis followed in neurology and neurosurgery outpatient clinics at our hospital were never smokers, and comprised the patients studied. They underwent HRCT of the chest to determine possible lung involvement secondary to neurofibromatosis. The diagnosis of neurofibromatosis was established according to published diagnostic criteria [3]. None had respiratory symptoms and all had a normal chest radiograph. The ethics committee approved this study and
Results
All six non-smoking patients with neurofibromatosis type I (four females and two males, mean age 39-year old, age range: 23–61) had small lung cysts (Table 1). The cysts had an extremely thin, barely perceptible, yet well-defined, wall. They were small in size ranging from 2 to 18 mm, with the majority ranging from 2 to 5 mm. In five cases the cysts were few in number (3 cysts in one, 5 cysts in 2, 9 cysts in one and 17 cysts in one patient), while in one case the cysts were numerous (more than
Discussion
Since 1963 when Davies [5] first reported an association of NF with ILD, there have been a number of surveys and case studies supporting a co-occurrence of pulmonary fibrosis in 10–20% of NF patients [5]. In some cases NF-associated ILD was an incidental finding, but in most the patients had dyspnea on exertion. Pulmonary function tests showed either a restrictive or an obstructive defect accompanied by a decreased diffusing capacity of the lung for carbon monoxide (DLCO) [1]. Chest radiography
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