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CUBIC Protocol Visualizes Protein Expression at Single Cell Resolution in Whole Mount Skin Preparations
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Multiple pilomatricomas in Kabuki syndrome.

Atsumori Hamahata1, Wataru Kamei, Masashi Ishikawa

  • 1Department of Plastic and Reconstructive Surgery, Tokyo Women's Medical University, Tokyo. a.hamahata@prs.twmu.ac.jp

Pediatric Dermatology
|February 7, 2012
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Summary

This study reports a rare case of multiple pilomatricomas in a 28-year-old man with Kabuki syndrome. This finding suggests a potential association between Kabuki syndrome and pilomatricoma development.

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Area of Science:

  • Dermatology
  • Genetics
  • Pediatric Oncology

Background:

  • Pilomatricoma is a benign hair matrix tumor, typically seen in children.
  • Multiple pilomatricomas are occasionally linked to inherited syndromes.
  • Kabuki syndrome is a genetic disorder characterized by ectodermal abnormalities.

Observation:

  • A 28-year-old male diagnosed with Kabuki syndrome presented with three pilomatricomas.
  • The pilomatricomas were located on the head and thigh.
  • No prior reports documented multiple pilomatricomas in conjunction with Kabuki syndrome.

Findings:

  • The case highlights a potential association between Kabuki syndrome and multiple pilomatricomas.
  • Pilomatricomas are linked to beta-catenin mutations involved in hair follicle development.
  • Kabuki syndrome involves ectodermal abnormalities, including hair issues.

Implications:

  • This association may extend beyond coincidence, suggesting a predisposition.
  • Further research is warranted to explore the genetic link between Kabuki syndrome and pilomatricoma.
  • This finding could inform clinical surveillance for patients with Kabuki syndrome.