Dermatologic Manifestations of Menkes Kinky Hair Disease Clinical Presentation

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

History

Individuals with Menkes kinky hair syndrome typically have hypotonia and seizures when they are infants. Although development initially appears normal, marked developmental delays are noted within the patient's first year of life. Feeding difficulties are common in individuals with Menkes kinky hair syndrome.

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Physical Examination

Common early physical features of Menkes kinky hair syndrome are microcephaly; distinct facial features; and silvery, wiry scalp hair.

Physical findings of Menkes kinky hair syndrome are as follows:

Hair findings are as follows, although changes may not be present at birth:

  • Shorter, thinner on sides and occiput

  • Hypopigmented - White, silver, gray

  • Pili torti (most common but not pathognomonic)

  • Trichoclasis and trichoptilosis

  • Trichorrhexis nodosa

  • Sparse, short, brittle, kinky, steel wool–like

  • Sparse, broken, horizontal eyebrows

  • Sparse eyelashes

Skin findings are as follows:

  • Hypopigmented, pale, mottled (cutis marmorata pattern), doughy, lax

  • Pudgy, sagging cheeks

  • Cupid's bow upper lip

Central nervous system findings include progressive deterioration marked by lethargy, seizures, mental retardation, motor retardation, hypotonia, hypothermia, and microcephaly.

Musculoskeletal findings are as follows:

  • Failure to thrive

  • Metaphyseal widening

  • Spurs of the long bones

  • Wormian bones in the sagittal and lambdoid sutures

  • Pectus excavatum

Cardiovascular findings are as follows:

  • Tortuous arteries

  • Intimal fragmentation of the internal elastic lamina - aneurysm

  • Venous phlebectasia [18]

Genitourinary findings are as follows [19] :

  • Bladder diverticula [20]

  • Nephrocalcinosis [21]

  • Calciuria, aminoaciduria, albuminuria, beta2 microalbuminuria

Other findings may include hypothermia (33-35°C).

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Complications

Complications of Menkes kinky hair syndrome include seizures and pneumonia.

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