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Hendy Setyo Yudhanto
Department of Anatomical Pathology, Faculty of Medicine, Universitas Brawijaya, Malang, Indonesia.
Health Professions Medicine & Pharmacology Public Health

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Persistent Pneumothorax in Neurofibromatosis Type-1 Hustorio Aliongko Simamora; Susanthy Djajalaksana; Iin Noor Chozin; Dini Rachma Erawati; Hendy Setyo Yudhanto; Gracelia Ruth Elisabeth Damanik; Adinda Amalia Dani; Aditya Sri Listyoko
Jurnal Respirasi Vol. 12 No. 1 (2026): January 2026
Publisher : Faculty of Medicine Universitas Airlangga

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.20473/jr.v12-I.1.2026.64-70

Abstract

Introduction: Neurofibromatosis type 1 (NF-1) is a rare autosomal dominant disorder. While typically recognized by its cutaneous features, pulmonary involvement, including apical cysts and basal interstitial fibrosis consistent with interstitial lung disease (ILD), can occur in up to 20% of patients. These manifestations create a predisposition to complications such as spontaneous pneumothorax. While this is relatively uncommon, occurring in approximately 1.5% of patients with NF-1, it represents a serious and potentially life-threatening complication when it does occur. Case: A 52-year-old male with a 20-pack-year smoking history and active pulmonary tuberculosis (TB) presented with acute chest pain and dyspnea. Dermatological examination and skin biopsy confirmed the diagnosis of NF-1. A high-resolution computed tomography (HRCT) scan of the chest revealed multiple subpleural pulmonary cysts consistent with NF-1-related ILD, alongside findings suggestive of active TB. The patient was diagnosed with a secondary spontaneous pneumothorax (SSP), which proved to be persistent despite initial chest tube drainage, ultimately requiring surgical intervention. Conclusion: This case highlights that NF-1 is a significant underlying risk factor for persistent pneumothorax, particularly when co-existing with other conditions like active TB and a history of smoking. The chronic inflammation and parenchymal destruction associated with these comorbidities can exacerbate the inherent structural lung abnormalities in NF-1, leading to complex, difficult-to-manage clinical scenarios. Early recognition of pulmonary manifestations in patients with NF-1 is crucial for anticipating and managing severe complications.
Sclerosing Rhabdomyosarcoma Tumor of Anterior Mediastinum in an Adult: A Rare Case Report Ria Christin Lumpiach; Yani Jane Sugiri; Ungky Agus Setyawan; Liana Karliasari; Hendy Setyo Yudhanto
Jurnal Respirasi Vol. 12 No. 3 (2026): September 2026
Publisher : Faculty of Medicine Universitas Airlangga

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.20473/jr.v12-I.3.2026.274-281

Abstract

Introduction: Rhabdomyosarcoma (RMS) is a malignant tumor that develops from mesenchymal cells, very rare in adults, approximately only 1-2%. Sclerosing Rhabdomyosarcoma (ScRMS) includes as newer subtypes of RMS, forming 5-10% of all RMS cases. RMS very rare occurs in the mediastinal, the predilection generally in extremity, genitourinary, head and neck region. RMS in adults has a poorer prognosis than paediatric and other high-grade sarcomas in adults. Case Presentation: A 47 years-old man with complaints of shortness of breath and left chest pain 4 months before admitted to the hospital. Thorax-CT suggests anterior mediastinal tumor with pericardial effusion, bilateral pleural effusion and venous cava superior syndrome (VCSS). The patient underwent open biopsy, radiotherapy, thoracocentesis and pericardiocentesis. Immunohistochemistry Desmin(+), CD45(-), CK(-), Myogenin(+), suggest a ScRMS dd Malignant Tryton Tumor, then H3K27Me3(+), SOX-10(-) established ScRMS. He started chemotherapy with Carboplatin-Etoposide regimen. After third series chemotherapy, RECIST CT examination showed progressive disease, patient then continued second line chemotherapy with Paclitaxel but also results to progressive disease. Conclusions: Pure mediastinal ScRMS in adults is extremely rare, with aggresive behaviour. Awareness of adults RMS is important due to its prognosis that rapidly progressive cause death and there is no standart regimen for adults RMS. Keywords: Sclerosing Rhabdomyosarcoma, Mediastinal Rhabdomyosarcoma
Co-Authors Adinda Amalia Dani Aditya Sri Listyoko Dini Rachma Erawati Gracelia Ruth Elisabeth Damanik Hustorio Aliongko Simamora Iin Noor Chozin Liana Karliasari Ria Christin Lumpiach Susanthy Djajalaksana Ungky Agus Setyawan Yani Jane Sugiri