Bin Rubaian Nouf F, Alghamdi Nada, Alhaddad Bayan, AlJanobi Hawra, Alharbi Abdulmajeed S
Department of Dermatology, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, SAU.
Department of Dermatology, King Fahad University Hospital, Dammam, SAU.
Cureus. 2023 Apr 16;15(4):e37661. doi: 10.7759/cureus.37661. eCollection 2023 Apr.
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.
局灶性真皮发育不全（FDH），也称为戈尔茨综合征，是文献中描述的一种罕见综合征。片状皮肤发育不全是最明显的体征。也有报道称存在色素沉着过度、色素减退、乳头状瘤、肢体缺陷和口面部表现。一名12岁的沙特女孩，家族史无异常，患有局灶性真皮发育不全。通过基因研究确诊。体格检查发现左侧面部、躯干和双侧肢体有不对称的蠕虫状皮肤萎缩条纹、伴有色素沉着过度的毛细血管扩张和色素减退，沿布拉斯科线分布。未观察到智力障碍。口腔检查发现广泛性菌斑性牙龈炎伴牙龈红斑增生。牙齿检查显示广泛性釉质发育不全，伴有牙齿形态异常、排列不齐、过小牙、牙间隙和牙倾斜，以及轻度龋齿。由于全球范围内报道的局灶性真皮发育不全病例很少，该综合征尚未被完全了解。由于该综合征在不同病例中的表现各异，每个病例的治疗都是独特的。这强调了报告局灶性真皮发育不全病例的重要性。
