PDF(Pubmed)
Abstract：
Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare syndrome described in the literature. Patchy skin hypoplasia is the most evident sign. Hyperpigmentation, hypopigmentation, papillomas, limb defects, and orofacial manifestations have also been reported. A 12-year-old Saudi girl with unremarkable family history presented with FDH. The diagnosis was confirmed using a genetic study. Physical examination revealed asymmetrical streaks of vermiculate dermal atrophy, telangiectasia with hyperpigmentation, and hypopigmentation on the left half of the face, trunk, and bilateral extremities. It appears along Blashko lines. No mental impairment was observed. Intraoral examination generalized plaque-induced gingivitis with erythematous gingival hyperplasia. Examination of the teeth showed generalized enamel hypoplasia with abnormal tooth formations, malalignment, microdontia, spacing and tilting, and minimal caries. As reported cases of FDH are rare worldwide, this syndrome is yet to be fully understood. As the manifestation of the syndrome varies among cases, the management of each case is unique. This emphasizes the importance of reporting cases of FDH.
摘要：
局灶性真皮发育不全(FDH),也被称为戈尔茨综合症，是文献中描述的罕见综合征。斑片状皮肤发育不全是最明显的征象。色素沉着过度,色素沉着减退,乳头状瘤,肢体缺陷,和口面表现也有报道。一名12岁的沙特女孩，家族史平淡无奇，患有FDH。通过基因研究证实了这一诊断。体格检查显示不对称的蛭状真皮萎缩条纹，毛细血管扩张伴色素沉着过度，左半脸色素减退，树干,和双边四肢。它沿着Blashko线出现。没有观察到精神损害。口腔内检查全身性牙菌斑诱发的牙龈炎伴红斑性牙龈增生。牙齿检查显示广泛的釉质发育不全伴异常牙齿形成，不对准,microdontia,间距和倾斜，和最小的龋齿。由于报告的FDH病例在全球范围内很少见，这种综合症尚未得到充分理解。由于该综合征的表现因病例而异，每个案例的管理都是独特的。这强调了报告FDH病例的重要性。
