Case Reports

Focal facial dermal dysplasia type IV: a case series

Publisher's note
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Received: 24 November 2024
Accepted: 27 March 2025
Published: 15 April 2025
428
Views
271
Downloads
8
HTML

Authors

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.

Downloads

Download data is not yet available.

Citations

Mehrtens SH, Shankar S. A case of focal facial dermal dysplasia type 4. Pediatr Dermatol 2019;36:58-9. DOI: https://doi.org/10.1111/pde.13730
Drolet BA, Baselga E, Gosain AK, et al. Preauricular skin defects. A consequence of a persistent ectodermal groove. Arch Dermatol 1997;133:1551-4. DOI: https://doi.org/10.1001/archderm.1997.03890480071010
Slavotinek AM, Mehrotra P, Nazarenko I, et al. Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. Hum Mol Genet 2013;22:696-703. DOI: https://doi.org/10.1093/hmg/dds477
Wells JM, Weedon D. Focal facial dermal dysplasia or aplasia cutis congenita: a case with a hair collar. Australas J Dermatol 2001;42:129-31. DOI: https://doi.org/10.1046/j.1440-0960.2001.00496.x
Lee BH, Aggarwal A, Slavotinek A, et al. The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity. J Med Genet 2017;54:585-90. DOI: https://doi.org/10.1136/jmedgenet-2017-104561
Cervantes-Barragán DE, Villarroel CE, Medrano-Hernández A, 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;48:716-20. DOI: https://doi.org/10.1136/jmedgenet-2011-100251
Graul-Neumann LM, Stieler KM, Blume-Peytavi U, Tzschach A. Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome). Am J Med Genet A 2009;149A:746-50. DOI: https://doi.org/10.1002/ajmg.a.32728
Kowalski DC, Fenske NA. The focal facial dermal dysplasias: report of a kindred and a proposed new classification. J Am Acad Dermatol 1992;27:575-82. DOI: https://doi.org/10.1016/0190-9622(92)70225-5
Rosti RO, Uyguner ZO, Nazarenko I, et al. Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation. Clin Genet 2015;88:489-93. DOI: https://doi.org/10.1111/cge.12539
Duan X, Yang GE, Yu D, et al. Aplasia cutis congenita: a case report and literature review. Exp Ther Med 2015;10:1893-5. DOI: https://doi.org/10.3892/etm.2015.2737
Yang MY, Ha DL, Kim HS, et al. Aplasia cutis congenita in Korea: Single center experience and literature review. Pediatr Int 2020;62:804-9. DOI: https://doi.org/10.1111/ped.14192
Prescott T, Devriendt K, Hamel B, et al. Focal preauricular dermal dysplasia: distinctive congenital lesions with a bilateral and symmetric distribution. Eur J Med Genet 2006;49:135-9. DOI: https://doi.org/10.1016/j.ejmg.2005.06.005
Tukel T, Šošić D, Al-Gazali LI, et al. Homozygous nonsense mutations in TWIST2 cause Setleis syndrome. Am J Hum Genet 2010;87:289-96. DOI: https://doi.org/10.1016/j.ajhg.2010.07.009
Marchegiani S, Davis T, Tessadori F, et al. Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. Am J Hum Genet 2015;97:99-110. DOI: https://doi.org/10.1016/j.ajhg.2015.05.017
Tahayato A, Dollé P, Petkovich M. Cyp26C1 encodes a novel retinoic acid-metabolizing enzyme expressed in the hindbrain, inner ear, first branchial arch and tooth buds during murine development. Gene Expr Patterns 2003;3:449-54. DOI: https://doi.org/10.1016/S1567-133X(03)00066-8
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 IRCCS, Padua, Italy.

How to Cite



1.
Gnesotto L, Cutrone M, Ruggiero G, Morando C, Belloni Fortina A, Patrizi A, et al. Focal facial dermal dysplasia type IV: a case series. Dermatol Reports [Internet]. 2025 Apr. 15 [cited 2026 May 4];17(4). Available from: https://journals.pagepress.net/dr/article/view/10199