关键词: Case report Gingival enlargement Infantile systemic hyalinosis Papulonodular lesions Zimmermann-Laband Syndrome

Mesh : Humans Female Infant Hyaline Fibromatosis Syndrome Fibromatosis, Gingival / diagnosis genetics pathology Abnormalities, Multiple / genetics Craniofacial Abnormalities / diagnosis

来  源:   DOI:10.1186/s12887-023-04344-z   PDF(Pubmed)

Abstract:
Zimmermann-Laband Syndrome (ZLS) and infantile systemic hyalinosis (ISH) are rare genetic disorders. They are characterized by various spectrum manifestations. In spite of other case reports, this case with features of both syndromes was reported by oral medicine specialists and oral and maxillofacial surgeons.
In this study, we reported an 18-months old female patient with gingival overgrowth. This phenomenon completely embedded all the erupted teeth. In this case, the presence of multiple papulonodular cutaneous lesions is a newly observed aspect that has rarely been reported in the existing literature. Gingival overgrowth was excised under general anesthesia. At six months of follow-up after surgery, mastication and breathing problems were improved. Aesthetic aspects were ameliorated in terms of gingival appearance.
To date, due to the ambiguous presentations, both syndromes remain an enigma for specialists. A timely diagnosis could be crucial for prognosis and preventing severe further surcharge. Dentists could play an important role in the diagnosis of rare disorders.
摘要:
背景:Zimmermann-Laband综合征(ZLS)和婴儿全身性透明症(ISH)是罕见的遗传性疾病。它们的特征在于各种光谱表现。尽管有其他病例报告,该病例由口腔医学专家和口腔颌面外科医师报告。
方法:在本研究中,我们报道了一名18个月大的牙龈过度生长女性患者.这种现象完全嵌入了所有萌出的牙齿。在这种情况下,多发性丘疹性皮肤病变的存在是一个新观察到的方面,在现有文献中很少报道。在全身麻醉下切除牙龈过度生长。在手术后六个月的随访中,咀嚼和呼吸问题得到改善。在牙龈外观方面改善了美学方面。
结论:迄今为止,由于模棱两可的介绍,这两种综合症对于专家来说仍然是一个谜。及时的诊断对于预后和防止严重的进一步附加费至关重要。牙医可以在罕见疾病的诊断中发挥重要作用。
公众号