{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T01:48:48Z","timestamp":1790214528004,"version":"4.1.0"},"reference-count":11,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,4,8]]},"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:p>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\u2013phenotype correlation studies are needed for NF1 in general and for its link to spontaneous pneumothorax in particular.<\/jats:p>","DOI":"10.1136\/bcr-2023-259475","type":"journal-article","created":{"date-parts":[[2024,5,2]],"date-time":"2024-05-02T12:55:32Z","timestamp":1714654532000},"page":"e259475","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Recurrent spontaneous pneumothorax in an NF1 patient with a novel causative variant: broadening genotype\u2013phenotype correlations"],"prefix":"10.1136","volume":"17","author":[{"given":"Ariane","family":"Paoloni-Giacobino","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Diagnostics, Geneva University Hospitals, Geneva, Switzerland"},{"name":"Hirslanden Precise, Clinique des Grangettes, Ch\u00eane-Bougeries, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Louis","family":"Blouin","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Diagnostics, Geneva University Hospitals, Geneva, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Nouspikel","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Diagnostics, Geneva University Hospitals, Geneva, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar","family":"Zgheib","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Diagnostics, Geneva University Hospitals, Geneva, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2024,5,2]]},"reference":[{"key":"2025082702551056000_17.5.e259475.1","unstructured":"Friedman JM . 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Neurofibromatosis type 1: a case highlighting pulmonary and other rare clinical manifestations. BMJ Case Rep 2018;2018. doi:10.1136\/bcr-2017-222614","DOI":"10.1136\/bcr-2017-222614"},{"key":"2025082702551056000_17.5.e259475.10","doi-asserted-by":"crossref","first-page":"3504","DOI":"10.1016\/j.radcr.2021.08.022","article-title":"A case of a patient with Neurofibromatosis type I who developed Pneumothorax and eosinophilic pleural effusion after suffering from COVID-19 pneumonia","volume":"16","author":"Wakamatsu","year":"2021","journal-title":"Radiol Case Rep"},{"key":"2025082702551056000_17.5.e259475.11","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-019-0695-0"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2023-259475","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T09:55:22Z","timestamp":1756288522000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2023-259475"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5]]},"references-count":11,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2024,5,2]]},"published-print":{"date-parts":[[2024,5]]}},"alternative-id":["10.1136\/bcr-2023-259475"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2023-259475","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5]]}}}