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Missing the Forest for the Trees - A Rare Cause of Pleural Effusion

Neurofibromatosis type 1 (NF-1) is a genetic disorder associated with dermatological, musculoskeletal, and neurological features. Apart from these, knowledge of other uncommon manifestations, including intrathoracic and pulmonary involvement, is crucial for early diagnosis and treatment. These patie...

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Detalles Bibliográficos
Autores principales: Kalagiri, Sai Samrat, Venkatnarayan, Kavitha, Veluthat, Chitra, Tirumalae, Rajalakshmi, Krishnaswamy, Uma Maheswari
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8843531/
https://www.ncbi.nlm.nih.gov/pubmed/35186543
http://dx.doi.org/10.7759/cureus.21265
Descripción
Sumario:Neurofibromatosis type 1 (NF-1) is a genetic disorder associated with dermatological, musculoskeletal, and neurological features. Apart from these, knowledge of other uncommon manifestations, including intrathoracic and pulmonary involvement, is crucial for early diagnosis and treatment. These patients are predisposed to various sarcomatous and non-sarcomatous malignancies. We report the case of an elderly lady with NF-1 who presented with pleural effusion related to the genetic disorder, which was missed, and elaborate on the diagnostic workup done to reach a diagnosis.