Nasal Polyposis in mucopolysaccharidosis type II

被引:0
|
作者
Kabekkodu, Sushmitha [1 ]
Sreedharan, Suja [2 ]
Gupta, Kirti [3 ]
Murali, Nirupama [4 ]
机构
[1] Manipal Acad Higher Educt, Kasturba Med Coll Mangalore, Otorhinolaryngol, Mangalore, Karnataka, India
[2] Manipal Acad Highe Educ, Kasturba Med Coll Mangalore, Otorhinolaryngol, Mangalore, Karnataka, India
[3] Post Grad Inst Med Educ & Res, Histopathol, Chandigarh, India
[4] Manipal Acad Higher Educ, Kasturba Med Coll Mangalore, Pathol, Mangalore, Karnataka, India
关键词
ear; nose and throat; nasal polyps; pathology; otolaryngology; ENT; genetics;
D O I
10.1136/bcr-2020-238778
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Mucopolysaccharidosis (MPS) type II is a rare multisystem disorder resulting from the accumulation of breakdown products of glycosaminoglycans in the body tissues. Many patients with this disease undergo ENT (ear, nose and throat) surgeries such as adenotonsillectomy and tympanocentesis at a very early age, much before the diagnosis of MPS. Nasal polyposis is a rare occurrence, with only one case of MPS II with polyposis reported in the literature. We present a patient who presented with recurrent nasal polyposis from the age of 2 years. Hale's colloidal iron was used to stain these 'nasal polyps', which revealed that they are, in fact, mucopolysaccharide-laden sinonasal mucosa prolapsing into the nasal cavities. We believe this is the first time that this stain has been used to stain nasal polyps in MPS. In addition to the histopathological peculiarities of these nasal masses, we also discuss the natural history of nasal polyposis in MPS II.
引用
收藏
页数:4
相关论文
共 50 条
  • [21] A molecular genetics view on Mucopolysaccharidosis Type II
    Verma, Shalja
    Pantoom, Supansa
    Petters, Janine
    Pandey, Anand Kumar
    Hermann, Andreas
    Lukas, Jan
    MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH, 2021, 788
  • [22] Mucopolysaccharidosis Type II, Hunter's Syndrome
    Tylki-Szymanska, Anna
    PEDIATRIC ENDOCRINOLOGY REVIEWS PER, 2014, 12 : 107 - 113
  • [23] Enzyme replacement therapy in mucopolysaccharidosis type II
    Castorina, M.
    Antuzzi, D.
    Zampetti, A.
    Ricci, R.
    ACTA PAEDIATRICA, 2008, 97 : 101 - 101
  • [24] Expanding the phenotype of mucopolysaccharidosis type II retinopathy
    Kowalski, Tanya
    Ruddle, Jonathan B.
    de Jong, Gerard
    Mack, Heather G.
    OPHTHALMIC GENETICS, 2021, 42 (05) : 631 - 636
  • [25] Biomarkers in patients with mucopolysaccharidosis type II and IV
    Fujitsuka, Honoka
    Sawamoto, Kazuki
    Peracha, Hira
    Mason, Robert W.
    Mackenzie, William
    Kobayashi, Hironori
    Yamaguchi, Seiji
    Suzuki, Yasuyuki
    Orii, Kenji
    Orii, Tadao
    Fukao, Toshiyuki
    Tomatsu, Shunji
    MOLECULAR GENETICS AND METABOLISM REPORTS, 2019, 19
  • [26] NASAL POLYPOSIS IN CHILDREN
    MARSDEN, D
    SOUTHERN MEDICAL JOURNAL, 1978, 71 (08) : 911 - 913
  • [27] Biology of nasal polyposis
    Stevens, Whitney W.
    Schleimer, Robert P.
    Chandra, Rakesh K.
    Peters, Anju T.
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2014, 133 (05) : 1503 - U479
  • [28] Pathogenesis of nasal polyposis
    Hulse, K. E.
    Stevens, W. W.
    Tan, B. K.
    Schleimer, R. P.
    CLINICAL AND EXPERIMENTAL ALLERGY, 2015, 45 (02): : 328 - 346
  • [29] NASAL POLYPOSIS IN A CHIMPANZEE
    JACOBS, RL
    LUX, GK
    SPIELVOGEL, RL
    EICHBERG, JW
    GLEISER, CA
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 1984, 74 (01) : 61 - 63
  • [30] Dupilumab for nasal polyposis
    Lipworth, Brian
    Chan, Rory
    Kuo, Chris RuiWen
    LANCET, 2020, 396 (10246): : 233 - 233