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: 473
CASE REPORT
Year : 2018  |  Volume : 19  |  Issue : 2  |  Page : 151-153

Menkes kinky hair disease: Role of dermatologist


Department of Skin and VD, B. J. Medical College and Civil Hospital, Ahmedabad, Gujarat, India

Correspondence Address:
Bela Jaswantlal Shah
Department of Skin and VD, Room No. 139, 1st Floor, Wing No. 3, OPD Building, Civil Hospital, Asarwa, Ahmedabad, Gujarat
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_28_17

Rights and Permissions

Menkes kinky hair disease is an X-linked recessive multisystem disorder which mainly involves a central nervous system and usually presents in early infancy. The underlying defect is in copper metabolism leading to impaired function of copper-dependent enzymes. Diagnosis is confirmed by low level of serum copper and serum ceruloplasmin. Classical disease is associated with poor prognosis. Hereby, we report a classical case of Menkes kinky hair disease with characteristic clinical as well as laboratory findings and radiological features. We are reporting this case because of its early presentation.


[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
    Viewed1208    
    Printed24    
    Emailed0    
    PDF Downloaded108    
    Comments [Add]    

Recommend this journal