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Ectodermal abnormalities in patients with Kabuki syndrome.

Ghada M H Abdel-Salam1, Hanan H Afifi, Maha M Eid

  • 1Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt. ghada.abdelsalam@yahoo.com

Pediatric Dermatology
|June 23, 2011
PubMed
Summary

Kabuki syndrome (KS) can involve ectodermal tissues, affecting hair, nails, and teeth. This study highlights specific hair shaft abnormalities and orodental issues in KS patients, suggesting broader ectodermal involvement.

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Area of Science:

  • Genetics
  • Dermatology
  • Pediatrics

Background:

  • Kabuki syndrome (KS) is a rare genetic disorder with characteristic facial features, developmental delay, and congenital anomalies.
  • Ectodermal manifestations are increasingly recognized in KS, but detailed characterization remains limited.

Observation:

  • Seven patients meeting KS clinical criteria were assessed for ectodermal abnormalities.
  • Microscopic hair examinations were conducted and compared to controls.
  • Clinical, dental, cytogenetic, and immunoglobulin assessments were performed.

Findings:

  • All patients exhibited receding anterior hairline, with five showing sparse frontal scalp hair.
  • Microscopic hair analysis revealed shaft twisting, irregular diameter, and trichorrhexis nodosa in all patients.
  • Hypoplastic nails (57.1%), café-au-lait patches (28.6%), missing upper lateral incisors (14.3%), and variable orodental anomalies were observed.

Implications:

  • This study provides further evidence for significant ectodermal involvement in Kabuki syndrome.
  • Understanding these ectodermal features can aid in comprehensive diagnosis and management of KS.
  • Further research into the genetic and molecular basis of KS ectodermal manifestations is warranted.