Diagnostic Considerations

Differential diagnosis for specific hair findings is as follows:

Trichorrhexis nodosa (ie, beaded, fractured hair shafts)

Biotin deficiency
Argininosuccinic aciduria - A urea cycle defect with elevated ammonia and argininosuccinic acids
Pollitt syndrome - Nonprogressive autosomal recessive disease with intellectual disability, spasticity, and seizures

Pili torti (twisted hair shafts)

Isolated finding
Pollitt syndrome
A syndrome associated with dental abnormalities, corneal opacities, deafness, and ichthyosis
Autosomal dominant intellectual disability and postpubertal pili torti
Citrullinemia - A urea cycle defect
Trichothiodystrophy - A defect of DNA repair with photosensitivity, ichthyosis, and intellectual disability
In heterozygotes, possibly areas of hair with 30-50% pili torti or skin depigmentation

Myeloneuropathy due to copper deficiency^[17]

Copper deficiency after gastric bypass surgery
Excessive zinc ingestion

Differential Diagnoses

Non accidental trauma

Workup

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Media Gallery

Four-month-old patient with classic Menkes disease. His hair is depigmented and lusterless with pili torti and the skin is pale with eczema.
Diverticula of the bladder in a boy with Menkes disease.
The clavicles are short with hammer-shaped distal ends in a patient with Menkes disease.
Flared metaphyses of the ulna and radius in a 5-month-old patient with classic Menkes disease.
Lax skin in a patient with occipital horn syndrome.
Occipital horns (arrow) in a 14-year-old boy with occipital horn syndrome.
Magnetic resonance imaging of the brain of a patient with Menkes disease. Subdural effusion is evident in the left frontal lesion. Brain atrophy is also evident.

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Menkes Disease Differential Diagnoses

Diagnostic Considerations

Differential Diagnoses

References

Tables

Contributor Information and Disclosures

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