Case Reports
15 April 2025

Focal facial dermal dysplasia type IV: a case series

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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.

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Laura Gnesotto, Dermatology Unit, Department of Medicine, University of Padua

Pediatric Dermatology Regional Center, Department of Women’s and Children’s Health, University of Padua; Soft-Tissue, Peritoneum and Melanoma Surgical Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy.

Anna Belloni Fortina, Dermatology Unit, Department of Medicine, University of Padua

Pediatric Dermatology Regional Center, Department of Women’s and Children’s Health, University of Padua, Italy.

How to Cite



Focal facial dermal dysplasia type IV: a case series. (2025). Dermatology Reports. https://doi.org/10.4081/dr.2025.10199