Focal facial dermal dysplasia

Definition:

The focal facial dermal dysplasias (FFDDs) are a group of inherited disorders of facial development, characterized by skin lesions resembling aplasia cutis congenita. 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.

References:

[1]. Anne M Slavotinek, et al. Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. Hum Mol Genet. 2013 Feb 15;22(4):696-703. [Content Brief]

[2]. Beom Hee Lee, et al. The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity. J Med Genet. 2017 Sep;54(9):585-590. [Content Brief]

[3]. David E Cervantes-Barragán, et al. Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification. J Med Genet. 2011 Oct;48(10):716-20. [Content Brief]

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