Von Recklinghausen's neurofibromatosis associated with cystic lung disease

Massaro, Donald; Katz, Sol; Matthews, Mary J.; Higgins, George M.

doi:10.1016/0002-9343(65)90177-4

Cited by 26 publications

(10 citation statements)

References 7 publications

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“…There were no statistically significant differences in age, pulmonary function pattern or radiographic abnormalities between nonsmokers and smokers (table 4). DISCUSSION NF-associated ILD was first described in 1963 by DAVIES [4] and, over the ensuing decades, other reports have described the association between NF and ILD [4][5][6][7][8][9][10][11][12][13][14][15][16][17][18]. In some patients, the finding of lung disease was incidental, but most subjects reported dyspnoea on exertion.…”

Section: Literature Reviewmentioning

confidence: 99%

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

Zamora¹,

Collard²,

Wolters³

et al. 2006

Eur Respir J

139

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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.

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Section: Literature Reviewmentioning

confidence: 99%

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

Zamora¹,

Collard²,

Wolters³

et al. 2006

Eur Respir J

139

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“…[20] This opened the floodgates to many more such sporadic reports linking the respiratory system with neurofibromatosis. [21][22][23][24] Several hypothesis exist which try to explain the pulmonary manifestations in this disease. Patchefsky et al suggested that the pulmonaryparenchymal disease in Neurofibromatosis is attributed to a mesenchymaldefect, resulting in primary deposition of collagen in the lung parenchyma.…”

Section: Descriptionsmentioning

confidence: 99%

Neurofibromatosis And The Lung : An Interesting Case

KapilIyer

Jansari²,

SwapnilKulkarni³

2015

ijmsci

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Neurofibromatosis is an inherited disease, having a predilection for tumour formation. [1] These diseases were previously referred to as "phakomatoses" or neurocutaneous syndromes. The clinical spectrum of these diseases usually involves the nervous, locomotor and cutaneous systems. However the involvement of the nervous system is very dangerous, and is often the leading cause of mortality in this condition. It disturbs cell growth in the nervous system which leads to the formation of tumours, either malignant or benign, on nerve tissue. The involvement of the respiratory system in these patients is very rare. We present an interesting case of a patient with neurofibromatosis induced diffuse parenchymal lung disease.

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“…Bekannt ist, dass die NF1 nicht nur mit Tumoren neuralen Ursprungs, sondern auch mit Tumoren nicht-neuralen Ursprungs sowie nicht-tumorösen Veränderungen an verschiedenen Organen assoziiert sein kann (2). Bullöse Veränderungen der Lunge, gelegentlich in Kombination mit Lungenkarzinomen, sind bei NF1-Patienten beschrieben und gelten als mit der Erkrankung assoziiert (9,10,17,19,20).…”

Section: Diskussionunclassified