Focal facial dermal dysplasia type IV: a case series
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 infants 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.
Authors
- Mario Cutrone (ORCID: https://orcid.org/0000-0002-0401-494X)
- Giuseppe Ruggiero (ORCID: https://orcid.org/0000-0003-2792-5364)
- Laura Gnesotto (ORCID: https://orcid.org/0009-0000-1652-4157)
- Anna Belloni Fortina (ORCID: https://orcid.org/0000-0001-5791-0775)
- Annalisa Patrizi (ORCID: https://orcid.org/0000-0002-8398-0483)
- Luigi Naldi (ORCID: https://orcid.org/0000-0002-3160-2835)
- Carla Morando
- Andrea Sechi (ORCID: https://orcid.org/0000-0003-3026-2434)
Institutions
- Centro Studi GISED (IT)
- University of Padua (IT)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola (IT)
- Italian Society of Physiotherapy (IT)
- Ospedale dell' Angelo (IT)
- Ospedale San Bortolo (IT)
Publication Details
- Journal
- Dermatology Reports
- Published
- 2025-04-15
- DOI
- https://doi.org/10.4081/dr.2025.10199
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00