PDF(Pubmed)
Abstract：
BACKGROUND: 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.
OBJECTIVE: The purpose of this case study is to provide insight into the fascinating role of consanguinity in the aetiology of this unusual illness.
METHODS: 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.
CONCLUSIONS: 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.
OBJECTIVE: The purpose of this case study is to provide insight into the fascinating role of consanguinity in the aetiology of this unusual illness.
METHODS: 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.
CONCLUSIONS: 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.
摘要：
背景：掌-足底角化过度和严重的早发性牙周炎是罕见的常染色体隐性隐性乳头-Lefévre综合征（PLS）的标志，这可能会导致乳牙和恒牙在早期丢失。该疾病的病因和病理生理学涉及几个因素，包括遗传,免疫学，和微生物因素。
目的：本案例研究的目的是深入了解血缘关系在这种不寻常疾病的病因学中的迷人作用。
方法：提供了一个异常的PLS病例报告，该报告是在一个有两个近亲结婚的家庭中进行的。一名17岁的沙特男孩参观了利雅得榆树大学的牙科诊所，因为他在咀嚼时牙齿松动和疼痛。以及烦躁和易碎的牙龈。他可能患有一种遗传病，过去曾被他的哥哥有效治疗过，他现在26岁。在这种情况下，严重的广泛牙周炎导致乳牙和恒牙的早期脱落，导致PLS。在鞋底的侧面，独特的皮肤病变显示角化过度，并有持续增厚的区域，剥落,和缩放。手掌上有红斑,但没有看到角化过度.
结论：当涉及到Papillon-Lefévre综合征（PLS）时，这是一个非常不寻常的例子，因为同一个家庭的两个兄弟姐妹都受到了影响。因病情而受到污名化的患者将受益于早期发现和多学科治疗。
目的：本案例研究的目的是深入了解血缘关系在这种不寻常疾病的病因学中的迷人作用。
方法：提供了一个异常的PLS病例报告，该报告是在一个有两个近亲结婚的家庭中进行的。一名17岁的沙特男孩参观了利雅得榆树大学的牙科诊所，因为他在咀嚼时牙齿松动和疼痛。以及烦躁和易碎的牙龈。他可能患有一种遗传病，过去曾被他的哥哥有效治疗过，他现在26岁。在这种情况下，严重的广泛牙周炎导致乳牙和恒牙的早期脱落，导致PLS。在鞋底的侧面，独特的皮肤病变显示角化过度，并有持续增厚的区域，剥落,和缩放。手掌上有红斑,但没有看到角化过度.
结论：当涉及到Papillon-Lefévre综合征（PLS）时，这是一个非常不寻常的例子，因为同一个家庭的两个兄弟姐妹都受到了影响。因病情而受到污名化的患者将受益于早期发现和多学科治疗。
