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.
Aim: The purpose of this case study is to provide insight into the fascinating role of consanguinity in the aetiology of this unusual illness.
Case presentation: 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.
Conclusion: 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.
Keywords: consanguinity; palmar- plantar hyperkeratosis; papillon-lefevre syndrome; periodontitis; saudi arabia.
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