The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity

  • J Med Genet. 2017 Sep;54(9):585-590. doi: 10.1136/jmedgenet-2017-104561.
Beom Hee Lee  1  2 ,  Aneel Aggarwal  3 ,  Anne Slavotinek  4 ,  Lisa Edelmann  1 ,  Brenden Chen  1 ,  Robert J Desnick  1
Affiliations
  • 1. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA.
  • 2. Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • 3. Department of Structural and Chemical Biology, Icahn School of Medicine at Mount Sinai, New York, USA.
  • 4. Department of Pediatrics, UCSF School of Medicine, San Francisco, USA.
PMID: 28663233 DOI: 10.1136/jmedgenet-2017-104561
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.

Keywords
Barber-Say syndrome; TWIST2; ablepharon-macrostomia syndrome; chromosome 1p36; focal facial dermal dysplasia.