Diffuse Interstitial Lung Disease in Neurofibromatosis

Burkhalter, James L.; Morano, James U.; McCAY, Marvin

doi:10.1097/00007611-198608000-00007

Cited by 34 publications

(19 citation statements)

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“…First, of the 16 cases of NF-DLD with recorded smoking histories, four (25%) were nonsmokers [5,12,15]. Secondly, the radiographic appearance of HRCT in the current three cases (which constitute approximately 40% of reported HRCT cases) is atypical for smoking-related disease; the borders of the cysts and bullae are thicker and more sharply defined than is seen in smoking-related emphysema.…”

Section: Neurofibromatosis-associated Lung Diseasementioning

confidence: 82%

“…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%

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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: Neurofibromatosis-associated Lung Diseasementioning

confidence: 82%

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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“…However, the association between Von Recklinghausen's disease and tumor secretion of GCSF remains controversial [4]. The association of NF1 and neuroendocrine carcinoma has been described by several authors, especially abdominal [12], duodenal [13,14], pancreatic [15], and mediastinal [16,17] tumors, but we found no cases of familiar neurofibromatosis associated with large cell neuroendocrine carcinoma in the literature.…”

Section: Discussionmentioning

confidence: 58%

“…Respiratory complications of NF 1 are quite rare; the most common involvement is bullous lung dystrophy, which was reported in 6% in the series of Bukhatter et al [4]. NF1 may also be complicated by benign tumors; malignant tumor complications are rare, and malignant nerve sheath tumor (formerly neurofibrosarcoma) is the main complication of NF 1 in adulthood.…”

Section: Discussionmentioning

confidence: 99%

Type I Neurofibromatosis Complicated by Large Cell Neuroendocrine Carcinoma of the Lung

Nadia¹,

Zahraoui²,

Khaoula³

et al. 2014

Tur Toraks Der

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Turk Thorac J 2014; 15: 168-71 CASE REPORT Type I Neurofibromatosis Complicated by Large Cell Neuroendocrine Carcinoma of the Lung INTRODUCTIONMost tumors that occur in Von Recklinghausen's disease or type I neurofibromatosis (NF 1) are benign neurofibromas; malignant tumors that are associated with NF 1 increase the disease severity. The distribution of malignant tumors is very different from that of the general population of tumors: 50% of them originate from central nervous system [1,2], and the occurrence of lung cancer is rarely reported, while there are no reported cases of large cell neuroendocrine carcinomas associated with NF 1, according to our knowledge.We report a case who was hospitalized in the Pulmonary Department of Moulay Youssef Hospital in Rabat, suffering from Von Recklinghausen's disease, in whom large cell neuroendocrine lung cancer was diagnosed. CASE PRESENTATIONOur case was a 40-year-old man with a history of familial type 1 neurofibromatosis. He was an ex-smoker with a smoking history of 30 pack-years. He presented with a 5-month history of moderate left chest pain, radiating to the left upper limb, associated with stage II NYHA dyspnea and dry cough, accompanied by dysphonia, asthenia, anorexia, and weight loss of 14 kg in 5 months. On clinical examination, the patient was poor general condition, and his saturation on room air was 94%. There was clubbing and a chest deformity and crackles on auscultation in the upper two-thirds of the left hemithorax; there was no reproducible pain by palpation.The cutaneous examination revealed "café au lait" spots all over the trunk, multiple typical and plexiform neurofibromas (Figure 1, 2) in the right lateral-cervical region, suprasternal, in the upper limbs, in the back, and the upper anterior part of the left hemithorax, some of which were painful on palpation. There were no palpable lymph nodes, and clinical examination of the systems was within normal limits. The chest radiograph (Figure 3) showed a homogeneous opacity occupying the upper two-thirds of the left hemithorax, a left basal, round opacity with sharp borders, and nodular and micronodular opacities occupying half of the right lung. Hemoglobin was 11.4 g/dL, white blood cell count was 11,800/mm 3 , erythrocyte sedimentation rate was 165 mm/h, C-reactive protein was 81.10 mg/L, and renal and hepatic tests were within normal limits. Neurofibromatosis 1 (NF 1), or Von Recklinghausen's disease, is one of the most common genetic diseases that are shown to be associated with several malignancies. The most common malignant tumors associated with NF are neurogenic tumors, while primary lung carcinomas are quite rare. We reported a 40-year-old patient, with a known family history of NF 1, who suffered from cough, dyspnea, and impaired general condition for the past 5 months. Radiography and CT chest showed the presence of a large left upper lobe mass measuring 13 cm in transverse diameter and 16 cm in anteroposterior diameter pressing on the trachea, left main bronchus, aortic arch, and lef...

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“…However, histological examination has revealed that the fibrosis is seen in all patients with bullae. Estimated incidences of interstitial fibrosis have ranged from 7 to 10 percent (5,6). Even though the NF1 gene has already been discovered, it is not clear whether the NF1 locus is also responsible for the lung involvement.…”

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confidence: 99%

Pulmonary Manifestations in von Recklinghausen''s Disease

Miyamoto

1997

Intern. Med.

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Diffuse Interstitial Lung Disease in Neurofibromatosis

Cited by 34 publications

References 0 publications

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

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

Type I Neurofibromatosis Complicated by Large Cell Neuroendocrine Carcinoma of the Lung

Pulmonary Manifestations in von Recklinghausen''s Disease

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