Dermatologic Manifestations of Menkes Kinky Hair Disease Workup

Updated: Jun 25, 2018
  • Author: Suguru Imaeda, MD; Chief Editor: William D James, MD  more...
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Laboratory Studies

The serum copper level is low in patients with Menkes kinky hair syndrome. Copper accumulation may be observed in cultured cells (useful mainly for prenatal diagnosis). Copper levels in the intestines, kidney, and skin fibroblasts are within the reference range or high. Copper levels in the liver, brain, and endothelial cells are low.

The serum ceruloplasmin level is low. [22]

Urine homovanillic/vanillylmandelic acid ratio of greater than 4 is strongly suggestive of Menkes disease and can be used as a screening method, especially in early infancy. Impaired activity of dopamine beta-hydroxylase, a copper-dependent enzyme, leads to increased homovanillic acid levels. [23, 24]

Urinalysis can be performed to investigate for hypercalciuria, albuminuria, aminoaciduria, and a high rate of beta2 microglobulin excretion. [25]


Imaging Studies

Radiography of the long bones and skull may be performed. Angiography or magnetic resonance angiography may be performed. Findings include metaphyseal widening of the femur and ribs, tibial and femoral spurs, and wormian bones of the skull.


Histologic Findings

Light microscopy shows hairs with pili torti that twist along the longitudinal axis. The twisting of the hair fiber creates the illusion of wide and narrow areas along the hair shaft similar to the nodes of monilethrix. Trichorrhexis nodosa also is commonly seen.

Electron microscopy of the skin shows that the diameter of dermal collagen fibrils is decreased and that sparse, amorphous elastin fibers are present.