Ann Dermatol.  2022 Aug;34(4):291-296. 10.5021/ad.20.120.

Focal Dermal Hypoplasia (Goltz Syndrome): A Case Report Showing a Wide Variety of Systemic and Oral Manifestations

Affiliations
  • 1Department of Oral & Maxillofacial Surgery, and Periodontology, School of Dentistry of Ribeirão Preto, University of São Paulo, Brazil
  • 2Department of Pathology, Ribeirão Preto Medical School, University of São Paulo, Brazil
  • 3Department of Stomatology, Public Health and Forensic Dentistry, School of Dentistry of Ribeirão Preto, University of São Paulo, Ribeirão Preto, São Paulo, Brazil

Abstract

Focal dermal hypoplasia (FDH), also known as Goltz syndrome, consists of an unusual genodermatosis that affects tissues of ectodermal and mesodermal origin and various organs and systems, especially skin, bones, eyes, and oral cavity. While systemic manifestations of FDH have been well documented, the oral manifestations have not been extensively discussed. We present a 22-year-old female patient with history of FDH that showed a variety of systemic and oral manifestations. FDH was diagnosed at birth based on cutaneous alterations. Extra and intraoral examination showed facial asymmetry, lip and perioral atrophy, upper lip papilloma, malocclusion, enamel hypoplasia, and gingival hyperplasia. Mucosal lesions, periodontal diseases, and malocclusion were treated by oral surgery, periodontal therapy and orthodontic treatment, respectively. Although FDH is an uncommon syndrome, health professionals should be aware of its systemic and oral manifestations to establish an early diagnosis and adequate treatment.

Keyword

Diagnosis; Focal dermal hypoplasia; Genetics; Oral manifestations
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