Abdul Nishath Sayed, Dagriri Lamis Khalid, Shenoy Mahesh
Oral and Maxillofacial Surgery and Diagnostic Sciences, College of Dentistry Riyadh Elm University, Riyadh, SAU.
Dentistry, College of Dentistry Riyadh Elm University, Riyadh, SAU.
Cureus. 2022 Jun 21;14(6):e26163. doi: 10.7759/cureus.26163. eCollection 2022 Jun.
Palmar-plantar hyperkeratosis and severe early-onset periodontitis are the hallmarks of the uncommon autosomal recessive Papillon-Lefévre syndrome (PLS), which may cause both primary and permanent teeth to be lost at an early age. The cause and pathophysiology of the disorder involve several factors, including genetic, immunological, and microbial factors.
The purpose of this case study is to provide insight into the fascinating role of consanguinity in the aetiology of this unusual illness.
An unusual PLS case report in a household with two consanguineously married parents was provided. A 17-year-old Saudi boy visited the dental clinic at Riyadh Elm University because he was having problems with loose teeth and pain while chewing, as well as irritated and friable gums. He may be suffering from a genetic condition that has been effectively treated in the past by his elder brother, who is now 26 years old. In this instance, severe extensive periodontitis contributed to the early loss of primary teeth as well as permanent teeth, resulting in PLS. On the lateral surface of the soles, the distinctive skin lesions revealed hyperkeratosis with regions of persistent thickening, flaking, and scaling. There were erythematous patches on the palms, but no hyperkeratosis was seen.
When it comes to Papillon-Lefévre syndrome (PLS), this is an extremely unusual instance since two siblings in the same family were both afflicted. Patients who are stigmatised because of their condition will benefit from early discovery and multidisciplinary treatment.
掌跖角化过度和严重的早发性牙周炎是罕见的常染色体隐性遗传性帕皮永 - 勒费夫尔综合征（PLS）的特征，该综合征可能导致乳牙和恒牙在早年脱落。该疾病的病因和病理生理学涉及多种因素，包括遗传、免疫和微生物因素。
本病例研究的目的是深入了解近亲结婚在这种罕见疾病病因学中的作用。
提供了一个不同寻常的PLS病例报告，该家庭中父母为近亲结婚。一名17岁的沙特男孩因牙齿松动、咀嚼时疼痛以及牙龈发炎和脆弱而前往利雅得艾尔姆大学牙科诊所就诊。他可能患有某种遗传疾病，其26岁的哥哥曾在过去对该疾病进行过有效治疗。在这个病例中，严重的广泛性牙周炎导致乳牙和恒牙过早脱落，从而引发了PLS。在脚底外侧，独特的皮肤病变表现为角化过度，伴有持续增厚、剥落和脱屑区域。手掌上有红斑，但未见角化过度。
就帕皮永 - 勒费夫尔综合征（PLS）而言，这是一个极其罕见的病例，因为同一个家庭中的两个兄弟姐妹都受到了影响。因病情而受到歧视的患者将受益于早期发现和多学科治疗。
