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Journals / Tüberküloz ve Toraks / 2006 / Cilt: 54 - Sayı: 3

Thoracic findings in neurofibromatosis

Nörofibromatoziste torasik bulgular

Aygün GÜR
Gülcihan ÖZKAN
Güngör ÇAMSAN
Fatma ZENGİN
Ayşe KÜLCÜ
Nur Dilek BAKAN
Pages
267–272
Publication Date
2022-11-05
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Cases 2 and 4 are still under our control.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Neurofibromatosis type 1 (von Recklinghausen’ disease) is an autosomal dominant hereditary syndrome.
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Key Findings & Data:Skin lesions of neurofibromatosis type 1 (NF 1) were pathologically confirmed in all cases.
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Conclusion & Impact:Cases 2 and 4 are still under our control.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Neurofibromatosis type 1 (von Recklinghausen’ disease) is an autosomal dominant hereditary syndrome. It is characterized with multiple light brown (café-au-lait) spots, Lisch nodules and neurofibromas. Thorax and lungs are affected in various forms. Four cases with symptoms of thoracic involvement were investigated in our clinic. Mean age was 46. All cases had dyspnoea and cough; two of them had chest pain. Skin lesions of neurofibromatosis type 1 (NF 1) were pathologically confirmed in all cases. Moreover, case 3 had diffuse interstitial fibrosis and honeycomb pattern. Case 2 had thorax deformity, kyphoscoliosis and intrathoracic benign mass. Case 1 had two neurofibrosarcoma masses on the right hemithorax. Case 4 had multiple intrathoracic neurofibromas. Cases 1 and 3 died within two years after diagnosis due to malignancy and respiratory failure, respectively. Cases 2 and 4 are still under our control.

Özet

Nörofibromatozis tip 1 (von Recklinghausen hastalığı) otozomal dominant geçişli herediter bir sendromdur. Hastalık multipl sütlü kahve (café au lait) lekeleri, Lisch nodülleri ve nörofibromlarla karakterizedir. Nörofibromatozis tip 1’de (NF 1) toraks ve akciğerler çeşitli şekillerde etkilenmektedir. Kliniğimizde intratorasik tutuluma ait semptomlarla başvuran dört olgu incelendi. Olguların ortalama yaşı 46 idi. Hastaların tümünde nefes darlığı ve öksürük yakınmaları mevcut olup, iki olguda göğüs ağrısı saptandı. Olguların tümünde NF 1’e ait cilt lezyonları patolojik olarak kanıtlandı. Bunun dışında olgu 3’te difüz interstisyel fibrozis ve bal peteği akciğer paterni vardı. Olgu 2’de kifoskolyoz, toraks duvarında deformite ve intratorasik benign kitle görünümü vardı. Olgu 1’de sağ hemitoraksta iki adet nörofibrosarkom kitlesi vardı. Olgu 4’te ise, multipl intratorasik nörofibromlar saptandı. Olgu 1 ve 3 tanıdan sonraki iki yıl içinde sırasıyla malignite ve solunum yetmezliği nedeniyle kaybedildi. Olgu 2 ve 4 halen takibimiz altındadır.

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Cite This Article

GÜR, A., ÖZKAN, G., ÇAMSAN, G., ZENGİN, F., KÜLCÜ, A., BAKAN, N. D. (2022). Thoracic findings in neurofibromatosis. Tüberküloz ve Toraks, Cilt: 54 - Sayı: 3, 267–272. https://ajindex.com/articles/619154

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