Neurofibromatosis-associated lung disease: a case series and literature review

Abstract

An association of neurofibromatosis with diffuse lung disease (NF-DLD) has been described, but its true prevalence and characteristics remain unclear. The objective of the present study was to define diffuse lung disease in patients with neurofibromatosis.A retrospective case series and literature review in a tertiary care academic medical centre is reported in which medical records, chest radiographs and high-resolution computed tomography (HRCT) scans were reviewed.A total of 55 adult patients with neurofibromatosis were identified, three of whom had NF-DLD. A literature review revealed 16 articles reporting 61 additional cases, yielding a total of 64 NF-DLD cases. The mean age of patients was 50 yrs. Males outnumbered females; most reported dyspnoea. Of the 16 subjects with documented smoking histories, 12 were ever-smokers. Eight patients had HRCT scan results demonstrating ground-glass opacities (37%), bibasilar reticular opacities (50%), bullae (50%), cysts (25%) and emphysema (25%); none had honeycombing. A group of 14 patients had surgical biopsy results that showed findings of interstitial fibrosis (100%) and interstitial inflammation (93%).In conclusion, neurofibromatosis with diffuse lung disease is a definable clinical entity, characterised by upper lobe cystic and bullous disease and lower lobe fibrosis. Its relationship to smoking remains unclear.

Chest ultrasonography to detect lung involvement in Von Recklinghausen’s disease

“…Common symptoms include dyspnea (80 %) and cough (32 %). Only 5 % of the patients complain of chest pain and 11 % are asymptomatic [2]. The average age and symptoms of ED presentation of our patient correlate with previous papers.…”

“…The average age and symptoms of ED presentation of our patient correlate with previous papers. Regarding the types of lung lesions detected by radiological examination, Zamora et al [2] report that chest radiography demonstrates bullous lung disease in 73 % of the cases, almost always in the upper lobes (93 %), and radiographic honeycombing sign in 13 % of the cases. Chest HRCT reveals emphysema (25 %), cyst (25 %), ground-glass abnormality (37 %), bullas (50 %) and reticular abnormalities (50 %).…”

Synchronous neuroendocrine tumor and non‐small‐cell lung cancer in neurofibromatosis type 1

“…The radiographic findings most commonly reported small, round lung cysts and asymmetrical, thin‐walled, bullae with an apical predominance. These findings are similar to, but distinct from those found in smoking‐related emphysema – the borders of the bullae and cysts are thicker and more sharply defined in NF1‐related disease 16. The CT chest in our patient noted multiple small, round cysts, paraseptal, and centrilobular emphysema along with scattered bullae with an apical predominance.…”

Padrões tomográficos das doenças intersticiais pulmonares difusas com correlação clínica e patológica

“…(123) Other interstitial lung diseases with cysts Cysts can occur in several DILDs, including chronic HP, chronic sarcoidosis, lymphoid interstitial pneumonia, DIP, and RB-ILD. (120,124,125) In a study of the diagnostic accuracy of HRCT in chronic cystic lung diseases, (120) a reliable diagnosis was rendered by two radiologists in approximately half of the cases.…”