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Átila Vinícius Vitor Nobre,Mário Taba Júnior,Alfredo Ribeiro Silva,Sérgio Luís Scombatti de Souza,Ana Carolina Fragoso Motta 대한피부과학회 2022 Annals of Dermatology Vol.34 No.4
Focal dermal hypoplasia (FDH), also known as Goltz syndrome, consists of an unusual genodermatosis that affects tissues of ectodermal and mesodermal origin and various or- gans and systems, especially skin, bones, eyes, and oral cavity. While systemic manifesta- tions 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 cutane- ous 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, peri- odontal 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.