Bullous lung disease and neurofibromatosis type-1

Nardecchia, Elisa; Perfetti, L.; Castiglioni, Massimo; Natale, Davide Di; Imperatori, Andrea; Rotolo, Nicola

doi:10.4081/monaldi.2012.159

Cited by 9 publications

(12 citation statements)

References 15 publications

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“…Moreover, the disease is asymptomatic at this stage, unless a pneumothorax occurs. 5 In addition, a study involving 6 adults with NF-1 submitted to lung CT revealed signs of NF-DLD in all of them and, in larger research conducted on 88 adults, cysts and emphysema-like bullae were present in 13 and 16 subjects, respectively. 16,17 Our study indicates that the earliest sign of lung involvement is the presence of subpleural bullae, blebs or cysts without basilar fibrosis, as already reported in two case reports of NF-DLD in childhood/adolescence.…”

Section: Discussionmentioning

confidence: 95%

“…The prevalence of NF‐DLD may be underestimated because the pulmonary findings, usually involving small lungs volume, are detectable only by CT at an early stage of the disease. Moreover, the disease is asymptomatic at this stage, unless a pneumothorax occurs . In addition, a study involving 6 adults with NF‐1 submitted to lung CT revealed signs of NF‐DLD in all of them and, in larger research conducted on 88 adults, cysts and emphysema‐like bullae were present in 13 and 16 subjects, respectively …”

Section: Discussionmentioning

confidence: 99%

“…Our study indicates that the earliest sign of lung involvement is the presence of subpleural bullae, blebs or cysts without basilar fibrosis, as already reported in two case reports of NF‐DLD in childhood/adolescence …”

Section: Discussionmentioning

confidence: 99%

“…16,17 Our study indicates that the earliest sign of lung involvement is the presence of subpleural bullae, blebs or cysts without basilar fibrosis, as already reported in two case reports of NF-DLD in childhood/adolescence. 5,6 Pediatricians should ensure the proper clinical follow-up for children with a diagnosis of NF-DLD, to check the respiratory function over time. Moreover, patients and their parents should be informed about the risk of pneumothorax.…”

Section: Discussionmentioning

confidence: 99%

“…More recently, the presence of NF‐DLD has also been reported in two pediatric cases (16‐ and 4‐year old) both with subpleural bullae/blebs at the upper lobes, without basilar fibrosis . These reports reinforce the concept that lung disease may be a direct manifestation of NF‐1.…”

Section: Introductionmentioning

confidence: 99%

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Neurofibromatosis type‐1‐associated diffuse lung disease in children

Spinnato

Facchini

Tetta

et al. 2019

Pediatric Pulmonology

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Objective: The purpose of the study was to investigate the occurrence of diffuse lung disease associated with neurofibromatosis type‐1 in the pediatric population. We also aimed at evaluating computed tomography (CT) findings of the disease. Introduction: Diffuse lung disease associated with neurofibromatosis type‐1 has been described mainly in the adult population; causes and connections between lung disease and the genetic disorder are still not completely understood. The occurrence of the disease in non‐smokers, the presence of blebs, bullae or cysts distinct from smoking‐related emphysema on CT and the histopathological pattern characterized by lymphoplasmocytic inflammation and fibrosis, are all factors that support the association of diffuse lung disease as a distinct manifestation of neurofibromatosis. Methods: We retrospectively reviewed, with “lung window,” all the spinal CTs performed in two institutions from 2004 to 2018 for scoliosis assessment in pediatric patients affected by neurofibromatosis type‐1 (group 1). Moreover, we retrospectively analyzed a control group of pediatric patients, affected by severe scoliosis without neurofibromatosis (group 2). Differences between the two groups were analyzed to ascertain whether the disease can be related to neurofibromatosis type‐1 rather than to scoliosis. Results: Six out of thirty one subjects from group 1 (19.4%) showed a condition of diffuse lung disease while none (0 of 31) in group 2. The differences between the two groups were statistically significant (P = .01). All six patients showed subpleural blebs, bullae, or cysts without basilar fibrosis. Conclusion: Our research consolidates the hypothesis that diffuse lung disease is a direct manifestation of neurofibromatosis type‐1 and that early onset is possible, even in pediatric patients.

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Section: Discussionmentioning

confidence: 95%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Neurofibromatosis type‐1‐associated diffuse lung disease in children

Spinnato

Facchini

Tetta

et al. 2019

Pediatric Pulmonology

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Diffuse lung disease associated with neurofibromatosis type-1 can also affect children

et al. 2018

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Interstitial lung disease and pre-capillary pulmonary hypertension in neurofibromatosis type 1

Rodrigues¹,

Oliveira²,

Andrade³

et al. 2018

Respiratory Medicine Case Reports

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Although previously reported, the existence of a neurofibromatosis (NF)-associated diffuse lung disease (DLD) still lacks solid evidence. We report a case of a 68-year-old non-smoking female with NF1, pre-capillary pulmonary hypertension (PH) and an interstitial lung pattern. Initial findings included progressive dyspnea, hypoxemia and sparse centrilobular ground-glass micronodules on high-resolution computed tomography (HRCT). Further study demonstrated a severe defect in diffusing capacity for carbon monoxide (DLCO), macrophages on bronchoalveolar lavage and pre-capillary PH on right cardiac catheterization. Surgical biopsy revealed macrophage accumulation along bronchovascular bundles and alveolar spaces and type II pneumocytes hyperplasia. Given the absence of environmental exposure or new drugs, a NF-DLD was hypothesized. Pre-capillary PH was disproportionate to interstitial findings, so it was attributed to a NF1-vasculopathy. Treatment with triple sequential combined therapy was unsuccessful culminating in death 18 months later. This case adds HRCT and anatomopathological data suggesting NF-DLD as a distinct manifestation of the disease.

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Bullous lung disease and neurofibromatosis type-1

Cited by 9 publications

References 15 publications

Neurofibromatosis type‐1‐associated diffuse lung disease in children

Neurofibromatosis type‐1‐associated diffuse lung disease in children

Diffuse lung disease associated with neurofibromatosis type-1 can also affect children

Interstitial lung disease and pre-capillary pulmonary hypertension in neurofibromatosis type 1

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