Neurofibromatosis With Recurrent Spontaneous Pneumothorax

Satar, Seher; Özcan, Ayşenaz; Kara, Tuğba; Canbakan, Sema

doi:10.1378/chest.2235522

Cited by 2 publications

(2 citation statements)

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“… 16 It is worth noticing that Satar et al reported a case of first-degree family history of NF1 and clinical features similar to our patient. 17 Both had skinfold freckling, café-au-lait macules, multiple neurofibromas and mixed-type hearing loss as well as recurrent pneumothorax. This is the only other case besides ours to report recurrent pneumothorax and first-degree relatives with NF1.…”

Section: Discussionmentioning

confidence: 99%

Spontaneous pneumothorax as a clinical manifestation of neurofibromatosis type 1

et al. 2021

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Neurofibromatosis type 1 (NF1) is a genetic disorder affecting the skin, nervous system, eyes and bones. Pulmonary involvement is unknown to many physicians. Yet, patients may be affected by lung bullae and cysts, which represent an increased risk for secondary spontaneous pneumothorax (SSP). We present a 56-year-old patient with a pathogenic variant of the NF1 gene, who suffered from NF1 with lung manifestations and recurrent SSP. It is essential to identify the patients having an increased risk of developing SSP as preventive surgery seem to decrease the risk of new events. Pneumothorax can be a clinical manifestation of NF1 but is not yet widely acknowledged as such.

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Section: Discussionmentioning

confidence: 99%

Spontaneous pneumothorax as a clinical manifestation of neurofibromatosis type 1

et al. 2021

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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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Neurofibromatosis With Recurrent Spontaneous Pneumothorax

Cited by 2 publications

References 0 publications

Spontaneous pneumothorax as a clinical manifestation of neurofibromatosis type 1

Spontaneous pneumothorax as a clinical manifestation of neurofibromatosis type 1

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

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