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Menke's syndrome
Synonym:
Kinky hair disease
Menke's syndrome is an X-linked defect in copper metabolism. There are low copper levels in the serum and in hair, and defective keratinization of the hair leading to sparseness, kinkiness and, microscopically, pili torti.
There is progressive mental deterioration, and associated defects in aortic elastin.
Treatment:
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