Focal Facial Dermal Dysplasias
- DOI:
- 10.1093/med/9780199934522.003.0067
The Focal Facial Dermal Dysplasias (FFDDs) are a group of developmental defects characterized by atrophic skin lesions located in a bitemporal (FFDD1-3) or preauricular distribution (FFDD4). The lesions occur along the fusion sites of the facial prominences early in embryogenesis. The FFDDs have been subdivided into four groups. FFDD1, Brauer syndrome, in which patients only have bitemporal lesions, is inherited as an autosomal dominant trait. FFDD2, Brauer-Setleis syndrome, in which patients have bitemporal lesions and associated defects, is an autosomal dominant disorder with variable expressivity and lack of penetrance. FFDD3, Setleis syndrome, characterized by bitemporal lesions and typical facial abnormalities, is genetically heterogeneous, due to recessive TWIST2 loss-of-function mutations, 1.3Mb 1p36 chromosomal duplications/triplications, or other undefined gene mutations. In contrast, FFDD4, characterized by preauricular skin defects without dysmorphic facial features, is also genetically heterogeneous. However, most patients have CYP26C1 recessive mutations.
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