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Oral manifestations of Menkes' kinky hair syndrome

J N Brownstein1, R E Primosch

  • 1Department of Pediatric Dentistry, College of Dentistry, University of Florida, Gainesville 32610-0426, USA.

The Journal of Clinical Pediatric Dentistry
|August 11, 2001
PubMed

Insights

Menkes Kinky Hair Syndrome (MKHS) is an X-linked disorder affecting copper transport. This case report details the rare oral findings in a patient with MKHS, highlighting gingival enlargement and delayed tooth eruption.

Area of Science:

  • Genetics
  • Biochemistry
  • Pediatric Medicine

Background:

  • Menkes Kinky Hair Syndrome (MKHS) is a rare X-linked recessive disorder characterized by copper transport defects.
  • Clinical features include hair abnormalities, hypopigmentation, and neurological degeneration.
  • Oral manifestations are infrequently documented.

Observation:

  • This report details a case of MKHS focusing on intraoral clinical findings.
  • Specific observations included gingival enlargement and delayed primary tooth eruption.

Findings:

  • The case presented contributes to the limited literature on the oral manifestations of MKHS.
  • Gingival enlargement and delayed eruption are significant intraoral signs associated with this condition.

Implications:

  • Increased awareness of these oral findings can aid in earlier diagnosis of MKHS.
  • Further research into the mechanisms behind oral symptoms in MKHS is warranted.
  • This case highlights the importance of comprehensive clinical evaluation in patients with suspected genetic disorders.

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