Nobre Átila Vinícius Vitor, Taba Mário, Silva Alfredo Ribeiro, de Souza Sérgio Luís Scombatti, Motta Ana Carolina Fragoso
Department of Oral & Maxillofacial Surgery, and Periodontology, School of Dentistry of Ribeirão Preto, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.
Department of Pathology, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.
Ann Dermatol. 2022 Aug;34(4):291-296. doi: 10.5021/ad.20.120.
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.
局灶性真皮发育不全（FDH），也称为戈尔茨综合征，是一种罕见的遗传性皮肤病，会影响外胚层和中胚层起源的组织以及各种器官和系统，尤其是皮肤、骨骼、眼睛和口腔。虽然FDH的全身表现已有充分记录，但口腔表现尚未得到广泛讨论。我们报告了一名22岁有FDH病史的女性患者，该患者表现出多种全身和口腔表现。FDH在出生时根据皮肤改变被诊断出来。口腔内外检查显示面部不对称、唇部和口周萎缩、上唇乳头状瘤、错牙合、釉质发育不全和牙龈增生。分别通过口腔外科手术、牙周治疗和正畸治疗对黏膜病变、牙周疾病和错牙合进行了治疗。尽管FDH是一种罕见综合征，但卫生专业人员应了解其全身和口腔表现，以便早期诊断并进行适当治疗。
