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Developmental defects
Original article
The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity
  1. Beom Hee Lee1,2,
  2. Aneel Aggarwal3,
  3. Anne Slavotinek4,
  4. Lisa Edelmann1,
  5. Brenden Chen1,
  6. Robert J Desnick1
  1. 1 Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA
  2. 2 Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
  3. 3 Department of Structural and Chemical Biology, Icahn School of Medicine at Mount Sinai, New York, USA
  4. 4 Department of Pediatrics, UCSF School of Medicine, San Francisco, USA
  1. Correspondence to Dr Robert J Desnick, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, Fifth Avenue and 100th Street, Box 1498, New York, NY 10029, USA; robert.desnick{at}mssm.edu

Abstract

Focal facial dermal dysplasias (FFDDs) are rare genetic/developmental disorders characterised by bilateral ‘scar-like’ facial lesions. Four subtypes are classified by the bitemporal (FFDD1–3) or preauricular (FFDD4) lesion location. FFDD1–3 are differentiated by additional facial abnormalities and inheritance patterns. Although the genetic defects causing FFDD1 and FFDD2 remain unknown, recent studies identified defects causing FFDD3 and FFDD4. Here, the clinical phenotypes, genetic defects and inheritance of the four FFDD subtypes are described. In addition, the overlapping facial abnormalities in FFDD3 and two other genetic disorders, Ablepharon macrostomia syndrome and Barber-Say syndrome, are noted. Familiarity with the FFDDs by clinicians will further delineate the phenotypes and genetic/developmental defects of these dermal facial disorders.

  • focal facial dermal dysplasia
  • TWIST2
  • ablepharon-macrostomia syndrome
  • Barber-Say syndrome
  • chromosome 1p36

https://doi.org/10.1136/jmedgenet-2017-104561

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    Footnotes

    • Contributors BHL and BC conducted the literature review. AA contributed to the structural insight of TWIST2. AS and LE provided insight on FFDD4 and aCGH. RJD supervised the project. BHL, BC and RJD wrote the manuscript with input from all other authors.

    • Funding This study was supported in part by a grant from the National Research Foundation of Korea, funded by the Ministry of Education, Science, and Technology (NRF-2016M3A9B4915706).

    • Competing interests None declared.

    • Patient consent Obtained.

    • Ethics approval IRB of the Icahn School of Medicine at Mount Sinai and Pellegrin-Enfants, Bordeaux, France.

    • Provenance and peer review Not commissioned; internally peer reviewed.

    • Correction notice This paper has been amended since it was published Online First. Owing to a scripting error, some of the publisher names in the references were replaced with ‘BMJ Publishing Group’ This only affected the full text version, not the PDF. We have since corrected these errors and the correct publishers have been inserted into the references.