A heterogenous group of genetic disorders characterized by scar-like atrophic lesions on the temple region of the head including preauricular area. Location of skin defects is likely related to defects in fusion of embryonic facial prominences during development of the face. Focal facial dermal dysplasia (FFDD) is generally divided into four subtypes according to the location of the lesions and inheritance pattern: FFDD1 (Brauer syndrome); FFDD2 (Brauer-Setleis syndrome); FFDD3 (Setleis syndrome); and FFDD4. Mutations in TWIST2 Protein and/or CYP26C1 (see CYP26 FAMILY) are associated with FFDD3, and 4.
Year introduced: 2022