Home About us Editorial board Search Ahead of print Current issue Archives Submit article Instructions Subscribe Contacts Login 
Home Print this page Email this page Small font size Default font size Increase font size Users Online: 165
CASE REPORT
Year : 2020  |  Volume : 21  |  Issue : 1  |  Page : 73-75

A case of netherton syndrome with novel mutation in SPINK5 gene expressing incomplete phenotype


Department of Dermatology, Vernerology, Leprology, Gujarat Cancer Society Medical College, Hospital and Research Centre, Ahmedabd, Gujarat, India

Correspondence Address:
Dr Jigna Krunal Padhiyar
Department of Dermatology, Vernerology, Leprology, Gujarat Cancer Society Medical College, Hospital and Research Centre, Room No-35, Ahmedabd, Gujarat
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_76_19

Rights and Permissions

Netherton syndrome (NS) is characterized by ichthyosis linearis circumflexa, trichorrhexis invaginata, and atopic diathesis. It is also considered a probable primary immunodeficiency as many patients have shown increased tendency for infections and abnormal levels of various immunoglobulins. Primary defect in NS is mutation in SPINK5 (serine protease inhibitor Kazal-type 5) gene which leads to the defective expression and function of lymphoepithelial Kazal-type-related inhibitor. We describe a case of a 7-year-old male born out of first-degree consanguineous marriage with findings of novel mutation, noninvolvement of the hair shaft, and unusual histopathology.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed76    
    Printed0    
    Emailed0    
    PDF Downloaded22    
    Comments [Add]    

Recommend this journal