Pneumothorax spontané et maladie de Recklinghausen : À propos d’un cas

Della, S. Ayed; Kotti, A.; Ayed, S.; Hassen, M. Fekih; Elatrous, Souheil

doi:10.1016/j.pneumo.2011.08.001

Cited by 9 publications

(3 citation statements)

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“…The seemingly intuitive association of NF1 and spontaneous pneumothorax, given the inherent risk of cystic and bullous disease in NF1, is, however, not widely recognised among clinicians. There are very few reports pointing out this risk, with phenotypes ranging from mild clinical features restricted to café-au-lait macules to more severe presentations 3–10. One report, published in this journal in 2021, was the first to describe a case of spontaneous pneumothorax in a patient with a known neurofibromin ( NF1 ) gene mutation 3.…”

Section: Introductionmentioning

confidence: 99%

Recurrent spontaneous pneumothorax in an NF1 patient with a novel causative variant: broadening genotype–phenotype correlations

Paoloni-Giacobino,

Blouin,

Nouspikel

et al. 2024

BMJ Case Rep

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Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with complete penetrance, most commonly known to affect the skin and eyes. Although lung involvement in the form of cysts and bullae occurs in up to 20% of adults, the seemingly intuitive association of NF1 and spontaneous pneumothorax is not widely recognised among clinicians. Here, we report the second case of recurring spontaneous pneumothorax in the context of NF1 with a confirmed molecular diagnosis. In both cases, the NF1 variants featured a premature stop codon in the C-terminal protein domain. Interestingly, our patient had mild skin symptoms, suggesting that spontaneous pneumothorax may not be correlated with cutaneous disease severity. More genotype–phenotype correlation studies are needed for NF1 in general and for its link to spontaneous pneumothorax in particular.

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Section: Introductionmentioning

confidence: 99%

Recurrent spontaneous pneumothorax in an NF1 patient with a novel causative variant: broadening genotype–phenotype correlations

Paoloni-Giacobino,

Blouin,

Nouspikel

et al. 2024

BMJ Case Rep

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“…Примерно половина случаев заболевания -следствие новых мутаций. Нейрофиброматоз характеризуется выраженным клиническим полиморфизмом, прогрессирующим течением, полиорганностью поражений и высокой частотой осложнений, требующих оперативного лечения, в том числе приводящих к летальному исходу (развитие сердечно-легочной недостаточности вследствие выраженных скелетных аномалий, злокачественное перерождение нейрофибром, пневмоторакс, легочная гипертензия, кровотечение) [2][3][4]. Механизм развития клинических проявлений неизвестен.…”

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“…В зарубежной литературе [4][5][6][7][8] описаны случаи манифестирования этого заболевания с легочных проявлений, сочетанного или изолированного поражения легких и средостения. A. Baydur и соавт.…”

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