RT Journal Article
SR Electronic
T1 The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP jmedgenet-2017-104561
DO 10.1136/jmedgenet-2017-104561
A1 Beom Hee Lee
A1 Aneel Aggarwal
A1 Anne Slavotinek
A1 Lisa Edelmann
A1 Brenden Chen
A1 Robert J Desnick
YR 2017
UL http://jmg.bmj.com/content/early/2017/06/29/jmedgenet-2017-104561.abstract
AB 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.