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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. 1Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA
  2. 2Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
  3. 3Department of Structural and Chemical Biology, Icahn School of Medicine at Mount Sinai, New York, USA
  4. 4Department 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}


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

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  • 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.

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