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Papillon-Lefevre Syndrome in a Family: A Simultaneous Occurrence in Multiple Siblings

Year: 2025

Type: article

Abstract: Background: Papillon-Lefevre Syndrome (PLS) is a rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis, aggressive periodontitis, and premature exfoliation of both deciduous and permanent teeth. Due to severe alveolar bone resorption, teeth are often lost two to three years after eruption, and affected individuals typically become edentulous by the age of 16-17.Case report: This study presents three siblings from the same family, each exhibiting different clinical manifestations of PLS. The first case is a 12-year-old girl who was referred to the Department of Oral Medicine with complaints of tooth mobility. She was diagnosed with severe periodontitis, permanent tooth mobility, and palmoplantar hyperkeratosis. The second case is her 10-year-old brother presenting with similar symptoms, and the third is their 9-month-old sister who had signs of palmoplantar hyperkeratosisConclusion: PLS requires early diagnosis and multidisciplinary management. Timely diagnosis and treatment can help prevent the rapid progression of disease-related complications.

Source: DOAJ (DOAJ: Directory of Open Access Journals)

DOI: 10.22038/jmds.2025.26036

Authors: Fatemeh Owlia, Zahra Gorji, Pegah Katiraie, Shima Mosallaei pour, Kimia Mashayekh

Institution: Shahid Sadoughi University of Medical Sciences and Health Services

Language: English

Topic: Genetic and rare skin diseases.

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W6926388697

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