Menkes kinky hair disease: Role of dermatologist

Abstract

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.

Keywords

• Cutis laxa
• Menkes disease
• seizures