Focal facial dermal dysplasia type IV: a case series

Abstract

Focal facial dermal dysplasias (FFDDs) encompass four rare inherited disorders. FFDD types I, II, and III are characterized by bitemporal scar-like lesions present from birth, while FFDD IV is identified by analogous lesions localized in the periauricular area. Most FFDD IV cases show autosomal-recessive inheritance with mutations in the CYP26C1 gene. We describe three newborns with bilateral, oval-shaped, hypopigmented preauricular lesions indicative of FFDD IV. It is crucial for physicians to recognize these rare conditions at an early stage to ensure proper diagnosis and to rule out associated malformations.