Indian Journal of Paediatric Dermatology

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

Menkes kinky hair disease: Role of dermatologist


Bela Jaswantlal Shah, Ashish Jagati, Rutu Joshi 
 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

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.


How to cite this article:
Shah BJ, Jagati A, Joshi R. Menkes kinky hair disease: Role of dermatologist.Indian J Paediatr Dermatol 2018;19:151-153


How to cite this URL:
Shah BJ, Jagati A, Joshi R. Menkes kinky hair disease: Role of dermatologist. Indian J Paediatr Dermatol [serial online] 2018 [cited 2020 Aug 8 ];19:151-153
Available from: http://www.ijpd.in/article.asp?issn=2319-7250;year=2018;volume=19;issue=2;spage=151;epage=153;aulast=Shah;type=0