Unilateral condylar hyperplasia in hemifacial hyperplasia, is there genetic proof of overgrowth?

Research output: Contribution to journalArticleAcademicpeer-review

5 Citations (Scopus)

Abstract

Hemifacial hyperplasia (HFH) is characterized by an increase in volume of all affected tissues of half of the face. It is present at birth, subsequently grows proportionally, and stops growing before adulthood. Unilateral condylar hyperplasia (UCH) consists of progressive asymmetric growth of the mandible and develops typically in early adulthood. Both disorders have an unknown aetiology. The overgrowth limited to one body part suggests somatic mosaicism, as this has been found in other similar localized overgrowth disorders. Often this includes a variant in a gene in the (PIK3CA)/PI3K/(PTEN)/AKT1/mTOR pathway. Here we report the case of an HFH patient with asymmetry present at birth, in whom a progressive growth pattern similar to UCH subsequently occurred, causing marked mandibular asymmetry. A condylectomy was successfully performed to stop the progressive growth. Somatic mosaicism for a mutation in PIK3CA was detected in the condylar tissue. This finding might indicate that both HFH and UCH can be caused by variants in genes in the (PIK3CA)/PI3K/(PTEN)/AKT1/mTOR pathway, similar to other disorders that result in asymmetrical bodily overgrowth.

Original languageEnglish
Pages (from-to)1464-1469
Number of pages6
JournalInternational Journal of Oral and Maxillofacial Surgery
Volume49
Issue number11
Early online date2020
DOIs
Publication statusPublished - Nov 2020

Keywords

  • PIK3CA
  • genetics
  • hemifacial hyperplasia
  • hemimandibular elongation
  • hemimandibular hyperplasia
  • mandibular asymmetry
  • maxillofacial surgery
  • unilateral condylar hyperplasia

Cite this