| CASE REPORT |
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| Year : 2018 | Volume
: 19
| Issue : 2 | Page : 151-153 |
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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
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/ijpd.IJPD_28_17
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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.
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