齐默尔曼-拉班德综合征相关遗传性牙龈纤维瘤病。

Q2 Dentistry Journal of Indian Society of Periodontology Pub Date : 2023-11-01 Epub Date: 2024-01-24 DOI:10.4103/jisp.jisp_582_22
Jaishree Tukaram Kshirsagar, Kalaiselvan Dharani, Priyangha Thangavel
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引用次数: 0

摘要

遗传性牙龈纤维瘤病(HGF)是一种不常见的以结缔组织堆积为特征的缓慢生长的纤维增生性疾病。它既可作为一种孤立的特征,也可作为任何综合征的一种表现形式。与 HGF 相关的各种综合征均为常染色体显性/隐性/X 连锁遗传。齐默尔曼-拉班德综合征(Zimmermann-Laband Syndrome,ZLS)是一种罕见的常染色体显性遗传疾病,表现为牙龈纤维瘤病(GF)、鼻和耳畸形、指甲或手脚末节指骨发育不良/发育不良。虽然发现该病的遗传模式既有常染色体显性遗传,也有隐性遗传,但其分子基础仍不清楚。本报告介绍了一例可能与 ZLS 相关的 HGF 病例,患者为 25 岁女性,表现为 GF、多毛症和其他综合征相关特征。她的父亲也受到类似影响,而她的母亲和兄弟姐妹则没有症状。医生向患者及其家人解释了这一病症,并对患者进行了牙周手术治疗,以改善美观,并定期随访。6 个月后,患者的美观度明显改善,而且没有复发。
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Zimmermann-Laband syndrome-associated hereditary gingival fibromatosis.

Hereditary gingival fibromatosis (HGF) is an uncommon slow-growing fibrous overgrowth characterized by connective tissue accumulation. It presents as an isolated feature or as a manifestation of any syndrome. Various syndromes associated with HGF are inherited by autosomal dominant/recessive/X-linked traits. Zimmermann-Laband syndrome (ZLS) is a rare, autosomal dominant inherited disease manifested with gingival fibromatosis (GF), nose and ears abnormalities, and hypoplastic/dysplastic nails or terminal phalanges of hand and feet. Although the pattern of inheritance was found to be both autosomal dominant and recessive traits, the molecular basis is still unclear. This report presents a possible case of ZLS-associated HGF in a 25-year-old female patient who presents with GF, hypertrichosis, and other syndrome-related features. Her father was similarly affected whereas her mother and sibling were asymptomatic. The patient and her family members were explained about the condition and surgical periodontal therapy was carried out for the patient to improve esthetics and was followed up regularly. Esthetics was significantly improved and no recurrence was noted at the end of 6 months.

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来源期刊
CiteScore
1.70
自引率
0.00%
发文量
87
审稿时长
44 weeks
期刊介绍: The Journal of Indian Society of Periodontology publishes original scientific articles to support practice , education and research in the dental specialty of periodontology and oral implantology. Journal of Indian Society of Periodontology (JISP), is the official publication of the Society and is managed and brought out by the Editor of the society. The journal is published Bimonthly with special issues being brought out for specific occasions. The ISP had a bulletin as its publication for a large number of years and was enhanced as a Journal a few years ago
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