Musculoskeletal manifestations of neurofibromatosis type 1 (von Recklinghausen's disease) and tuberous sclerosis (Bourneville's disease)

被引:2
|
作者
Uhl, Markus [1 ]
机构
[1] Artemed Klinikum Freiburg, Sautierstr 1, D-79104 Freiburg, Germany
来源
RADIOLOGE | 2021年 / 61卷 / 12期
关键词
Genetic disorders; Tuberous sclerosis; Neurofibroma; Plexiform neurofibromas; Cafe-au-lait macules;
D O I
10.1007/s00117-021-00892-6
中图分类号
R8 [特种医学]; R445 [影像诊断学];
学科分类号
1002 ; 100207 ; 1009 ;
摘要
Clinical problem Neurofibromatosis type 1 (NF1) and tuberous sclerosis (TS) are among the most common genetic diseases. Bone and soft tissue manifestations are common disease manifestations. Standard radiological procedure and evaluation The standard radiological procedure is magnetic resonance imaging (MRI). All macroscopic disease manifestations can be diagnosed radiologically and observed during the course. Specific complications such as plexiform neurofibromas and malignant peripheral nerve sheath tumors (MPNST) in NF1 are readily visible on MRI. Differentiation of plexiform neurofibromas and MPNST is uncertain and requires follow-up. Recommendation for practice MRI is the most important procedure for the investigation of soft tissue and bone manifestations of NF1 and TS.
引用
收藏
页码:1090 / 1095
页数:6
相关论文
共 50 条
  • [41] Recklinghausen's neurofibromatosis aberrant type generalized aberrant disease
    Conde-Salazar, L.
    del Rio, E.
    Heras, F.
    ACTAS DERMO-SIFILIOGRAFICAS, 2007, 98 (10): : 713 - 714
  • [42] Von Recklinghausen's disease
    Esplugas, J
    Heras, GL
    MEDICINA CLINICA, 1999, 112 (10): : 400 - 400
  • [43] Neurocutaneous Genetic Disorder (Neurofibromatosis Type 1; von Recklinghausen's disease) Associated with a Correctable Cause of Hypertension
    Ahmed, Mohammed
    Al Kahtani, Nora
    Al Reesi, Ali
    Alsughyer, Bader Mansour
    ENDOCRINE REVIEWS, 2014, 35 (03)
  • [44] Plexiform neurofibroma with neurofibromatosis type I/ von Recklinghausen's disease: A rare case report
    Poswal, Pooja
    Bhutani, Namita
    Arora, Sunil
    Kumar, Raj
    ANNALS OF MEDICINE AND SURGERY, 2020, 57 : 346 - 350
  • [45] Specific behavioral phenotype of patients with neurofibromatosis type 1 (von Recklinghausen disease)
    Korzeniewska, Justyna
    Perek-Polnik, Marta
    Dembowska-Baginska, Bozena
    Drogosiewicz, Monika
    Perek, Danuta
    NEURO-ONCOLOGY, 2008, 10 (03) : 464 - 464
  • [46] Generalized neurofibromatosis (Von Recklinghausen's disease) Report of a case showing a superficial resemblance to Hodgkin's disease
    Elliott, CA
    Beifeld, AF
    JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1914, 63 : 1358 - 1362
  • [47] A Contribution on the knowledge of Neurofibromatosis (Recklinghausen's disease).
    Beck, Erich
    ZEITSCHRIFT FUR DIE GESAMTE NEUROLOGIE UND PSYCHIATRIE, 1938, 162 (03): : 426 - 442
  • [49] XVIII - (A) - Von Recklinghausen's Disease in the negro; (B) Curvature of the spine in Von Recklinghausen's Disease
    Weiss, RS
    ARCHIVES OF DERMATOLOGY AND SYPHILOLOGY, 1921, 3 (02): : 144 - 151
  • [50] A case of tuberous sclerosis (bourneville's disease) complicated by bilateral optic disc edema
    Rhizlane, A.
    Jaafar, D.
    Bourakba, S.
    Siham, C.
    Maadan, A.
    Sekhsoukh, R.
    JOURNAL FRANCAIS D OPHTALMOLOGIE, 2020, 43 (02): : 182 - 185