Pulmonary neurofibromatosis with bilateral bronchiectasis: A rare thoracic manifestation
| Autor: | Surya Kant, Hemant Kumar, Jyoti Bajpai, Poornima Mishra, Manoj Kumar Pandey |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
lcsh:RC705-779
congenital hereditary and neonatal diseases and abnormalities Inguinal freckling Pathology medicine.medical_specialty Bronchiectasis bronchiectasis business.industry Genetic disorder Interstitial lung disease lcsh:Diseases of the respiratory system General Medicine medicine.disease neurofibroma Lesion kyphoscoliosis histopathological examination medicine Neurofibroma medicine.symptom Neurofibromatosis business Kyphoscoliosis |
| Zdroj: | Indian Journal of Respiratory Care, Vol 10, Iss 1, Pp 132-135 (2021) |
| ISSN: | 2277-9019 |
| DOI: | 10.4103/ijrc.ijrc_45_20 |
| Popis: | Neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease, is an autosomal dominant genetic disorder. The incidence of NF is 1 in 3000 individuals. Approximately one-half of the cases are familial, while the remaining occur sporadically due to germ cell mutations. The clinical manifestation of NF1 may include a café-au-lait macule usually 5–15 mm in diameter, multiple neurofibromas, axillary or inguinal freckling, optic glioma, Lisch nodules, and a distinctive bony lesion. Although very rare, pulmonary manifestation in neurofibromatosis can occur in the form of mediastinal neurofibromas, pleural neurofibromas, tracheobronchial neurofibroma, interstitial lung disease, bullous lung disease, and cystic lung disease. Here, we present a rare case of pulmonary neurofibroma with bronchiectasis. |
| Databáze: | OpenAIRE |
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