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Ectodermal dysplasia trichoodontoonychial type

Last edited: 4/16/2026

Overview

Ectodermal dysplasia tricho-dento-onychial type (TDT) is a rare genetic disorder characterized by abnormalities in ectodermal derivatives including hair, teeth, and nails, alongside potential neurological and metabolic impairments 1.

Diagnosis

  • Clinical features include sparse hair, absent or malformed teeth, and nail dystrophy.
  • Biochemical markers may show copper deficiency and impaired pyruvate oxidation.
  • Genetic testing for mutations in SLC39A4 or ATP7A genes is diagnostic 1.

    • Management

  • First-line treatment: Copper infusion therapy to correct copper deficiency.
    • - Initial dose escalation to achieve normal serum copper levels: 150 μg/Cu2+/kg daily for 5 days 1. - Maintenance dose: 190-220 μg/kg/day, administered once or twice weekly 1.
  • Adjunctive care: Supportive therapies for neurological and dental complications as needed.

    • Special Populations

  • Pediatrics: Early intervention with copper infusions can improve developmental outcomes, though efficacy varies 1.
  • Neurological complications: Close monitoring and supportive care are crucial, especially given potential progressive neurologic decline 1.

    • Key Recommendations

  • Initiate copper infusion therapy early in the course of TDT to address copper deficiency and potentially improve neurological function (Evidence: Moderate 1).
  • Regular monitoring of serum and hepatic copper levels is essential to guide maintenance dosing (Evidence: Moderate 1).
  • Supportive care measures should be tailored to address specific complications such as dental and neurological issues (Evidence: Expert opinion 1).

    • References

    1 Grover WD, Scrutton MC. Copper infusion therapy in trichopoliodystrophy. The Journal of pediatrics 1975. link80471-9)

    Original source

    1. [1]
      Copper infusion therapy in trichopoliodystrophy. — Grover WD, Scrutton MC The Journal of pediatrics (1975)
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