Steely hair syndrome

Menkes disease is a genetic disease involving mental retardation and death before the age of 3 years. The disease is also called Menkes steely hair syndrome. This term came from the abnormal, steely or kinky hair that results. The hair is tangled, grayish, and easily broken. 

Menkes syndrome (Menkes steely-hair syndrome) is a rare, X-linked recessive disorder in which infants have low levels of copper in serum and in most tissues except kidney and intestine, where the concentration is very high. They also have greatly reduced plasma ceruloplasmin levels. Hair of the affected infants has a characteristic color and texture (pili torti, twisted hair ). It appears tangled and dull, has an ivory or grayish color, and is friable. Weakness and depigmentation of hair and defects in arterial walls (leading to aneurysms) are explained by loss of activity of copper-dependent enzymes (Table 37-5). Cerebral dysfunction may be due to a disturbance in energy metabolism or neurotransmitter synthesis secondary to decreased activity of cytochrome oxidase and dopamine... 

The copper concentrations of the kidneys, spleen, pancreas, and placenta of the diseased fetus were significantly higher than those from controls. Therefore, the gene mutation that occurs in the steely-hair syndrome may affect the copper transport system of organs other than the intestine. 

The recognition of the many pathological anomalies associated with copper deficiency will undoubtedly aid in the diagnosis of ailments that arise when dietary copper is low or unavailable. Support for this statement has already been provided in the section describing Menkes steely hair syndrome. The etiology of this inborn error was discovered when the symptoms of the disease were compared with the symptoms that occur in experimental copper deficiency. 

G. (1973) Therapeutic implications of copper deficiency in Menkes steely-hair syndrome. Arch. Dis. Childhood 48 958. 

Menkes syndrome is a very rare but fatal condition which presents in infants as growth failure and mental retardation, with lesions of the major blt)od vessels and bone disease. A characteristic sign is steely hair (pilo torti). 

Copper deficiency caused by a genetically determined defect of copper absorption is observed in Menkes disease, also called steely or kinky hair syndrome. Extremely low copper concentrations in blood serum, urine, tissues, and hair are associated with retarded growth and development, bone changes, and severe cerebral degeneration. Clinical improvement can be obtained by copper supplementation [48]. 

With the exception of anemia, all the pathological abnormalities associated with copper deficiency in experimental animals have been observed in patients with Menkes syndrome (Banks, 1975). In fact, the similarity between wool from copper-deficient sheep and hair from Menkes patients prompted Banks et al. (1973a) to suggest that the term steely hair be used to describe the hair on these affected infants. 

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