kinky hair disease

(redirected from Trichopoliodystrophy)

kink·y-hair dis·ease

, kinky hair disease [MIM*309400]
an inborn error of copper metabolism, onset within a few weeks of birth; manifested by short, sparse, poorly pigmented kinky hair; failure to thrive; development of seizures; spasticity; and progressive mental deterioration leading to death. X-linked recessive inheritance due to a defect of copper transport, caused by mutation in the Menkes gene (MNK), which encodes a copper-transporting ATPase on Xq.

kinky hair disease

Etymology: Du, kink, short twist + AS, haer + L, dis + Fr, aise, ease
an inherited condition characterized by short, sparse, poorly pigmented hair with shafts that are twisted and broken. Other mental and physical disorders are usually associated with the disease.
An X-linked recessive [MIM309400] condition caused by defective copper metabolism with copper accumulation in certain tissues—e.g., fibroblasts, kidneys, gastrointestinal mucosa—and a relative deficiency of copper in other tissues—e.g., brain and liver—accompanied by defective copper enzymes—e.g., lysyl oxidase, tyrosinase
Prognosis Death often occurs in early infancy with progressive neurologic and vascular degeneration; kinky hair also occurs in autosomal dominant trichodento-osseous syndrome and in normal people

kinky hair disease

Menke syndrome, trichopoliodystrophy Metabolic disease An X-R condition due to defective copper metabolism with copper accumulation in fibroblasts, kidneys, GI mucosa, and a relative deficiency of copper in other tissues–eg, brain and liver, accompanied by defective copper enzymes–eg, lysyl oxidase, tyrosinase Clinical FTT, seizures, hypothermia, ↑ infections, kinky hair–pili torti due to defective disulfide bond formation, seborrheic dermatitis, mental and growth retardation, myoclonic seizures, scurvy-like radiologic changes of long bones Prognosis Death in early infancy with progressive neurologic and vascular degeneration. Cf Giant axonal neuropathy, Uncombable hair syndrome, Woolly hair disease.
References in periodicals archive ?
Menkes disease (MD) (OMIM: 309400) is also known as kinky hair disease, trichopoliodystrophy, and steely hair.
Menkes disease (MD)(OMIM: 309400) is also known as kinky hair disease, trichopoliodystrophy, and steely hair.