Neurofibromatosis type 1 and pneumoconiosis: A case report on a coincidence

被引:0
作者
Kalayci, Defne [1 ]
Aydin, Mehmet Maruf [2 ]
Ozdemir, Levent [3 ]
机构
[1] Antalya City Hosp, Occupat Med Outpatient Clin, Antalya, Turkiye
[2] Samsun Educ & Res Hosp, Dept Radiol, Samsun, Turkiye
[3] Samsun Educ & Res Hosp, Dept Chest Dis, Samsun, Turkiye
关键词
Neurofibromatosis; occupational medicine; occupational respiratory diseases; pneumoconiosis;
D O I
10.1080/19338244.2024.2320634
中图分类号
X [环境科学、安全科学];
学科分类号
08 ; 0830 ;
摘要
Neurofibromatosis (NF) is a neurocutaneous syndrome characterized by the development of central or peripheral nervous system tumors. The most common form, known as NF1 or Von Recklinghausen's disease, presents with distinct clinical features, including cutaneous and ocular manifestations, along with various other organ and systemic symptoms. While the lung findings associated with neurofibromatosis lack specificity, they can include parenchymal cysts and bullae formation, primarily in the upper-apical regions. Additionally, progressive fibrotic changes, such as ground-glass areas, consolidations, and paving stone patterns, may manifest in the basal parts of the lungs. In this case report, a case of NF1 diagnosed in adulthood and accompanying pneumoconiosis was discussed as a coincidence.
引用
收藏
页码:107 / 111
页数:5
相关论文
共 16 条
  • [1] New Insights into Pathomechanisms and Treatment Possibilities for Lung Silicosis
    Adamcakova, Jana
    Mokra, Daniela
    [J]. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2021, 22 (08)
  • [2] Imaging diagnosis of pneumoconiosis with predominant nodular pattern: HRCT and pathologic findings
    Akira, Masanori
    Suganuma, Narufumi
    [J]. CLINICAL IMAGING, 2023, 97 : 28 - 33
  • [3] Neurofibromatosis type 1: State-of-the-art review with emphasis on pulmonary involvement
    Alves Junior, Sergio Ferreira
    Zanetti, Glaucia
    Alves de Melo, Alessandro Severo
    Souza, Arthur Soares, Jr.
    Souza, Luciana Soares
    Portes Meirelles, Gustavo de Souza
    Irion, Klaus Loureiro
    Hochhegger, Bruno
    Marchiori, Edson
    [J]. RESPIRATORY MEDICINE, 2019, 149 : 9 - 15
  • [4] Structural alteration of lung parenchyma in patients with NF1: a phenotyping study using multidetector computed tomography (MDCT)
    Avanesov, Maxim
    Well, Lennart
    Laqmani, Azien
    Derlin, Thorsten
    Riccardi, Vincent M.
    Adam, Gerhard
    Mautner, Victor-Felix
    Salamon, Johannes
    [J]. ORPHANET JOURNAL OF RARE DISEASES, 2021, 16 (01)
  • [5] Neurofibromatosis type 1
    Gutmann, David H.
    Ferner, Rosalie E.
    Listernick, Robert H.
    Korf, Bruce R.
    Wolters, Pamela L.
    Johnson, Kimberly J.
    [J]. NATURE REVIEWS DISEASE PRIMERS, 2017, 3
  • [6] Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1
    Isakson, Sara H.
    Rizzardi, Anthony E.
    Coutts, Alexander W.
    Carlson, Daniel F.
    Kirstein, Mark N.
    Fisher, James
    Vitte, Jeremie
    Williams, Kyle B.
    Pluhar, G. Elizabeth
    Dahiya, Sonika
    Widemann, Brigitte C.
    Dombi, Eva
    Rizvi, Tilat
    Ratner, Nancy
    Messiaen, Ludwine
    Stemmer-Rachamimov, Anat O.
    Fahrenkrug, Scott C.
    Gutmann, David H.
    Giovannini, Marco
    Moertel, Christopher L.
    Largaespada, David A.
    Watson, Adrienne L.
    [J]. COMMUNICATIONS BIOLOGY, 2018, 1
  • [7] Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
    Legius, Eric
    Messiaen, Ludwine
    Wolkenstein, Pierre
    Pancza, Patrice
    Avery, Robert A.
    Berman, Yemima
    Blakeley, Jaishri
    Babovic-Vuksanovic, Dusica
    Cunha, Karin Soares
    Ferner, Rosalie
    Fisher, Michael J.
    Friedman, Jan M.
    Gutmann, David H.
    Kehrer-Sawatzki, Hildegard
    Korf, Bruce R.
    Mautner, Victor-Felix
    Peltonen, Sirkku
    Rauen, Katherine A.
    Riccardi, Vincent
    Schorry, Elizabeth
    Stemmer-Rachamimov, Anat
    Stevenson, David A.
    Tadini, Gianluca
    Ullrich, Nicole J.
    Viskochil, David
    Wimmer, Katharina
    Yohay, Kaleb
    Huson, Susan M.
    Evans, D. Gareth
    Plotkin, Scott R.
    [J]. GENETICS IN MEDICINE, 2021, 23 (08) : 1506 - 1513
  • [8] Early Identification, Accurate Diagnosis, and Treatment of Silicosis
    Li, Tian
    Yang, Xinyu
    Xu, Hong
    Liu, Heliang
    [J]. CANADIAN RESPIRATORY JOURNAL, 2022, 2022
  • [9] The Diagnosis and Management of Neurofibromatosis Type 1
    Ly, K. Ina
    Blakeley, Jaishri O.
    [J]. MEDICAL CLINICS OF NORTH AMERICA, 2019, 103 (06) : 1035 - +
  • [10] HRCT findings in the lungs of non-smokers with neurofibromatosis
    Oikonomou, Anastasia
    Vadikolias, Konstantinos
    Birbilis, Theodosios
    Bouros, Demosthenes
    Prassopoulos, Panos
    [J]. EUROPEAN JOURNAL OF RADIOLOGY, 2011, 80 (03) : E520 - E523