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Research Article | Volume 19 Issue 3 (Jul, 2026) | Pages 22 - 29
Papillon–Lefèvre Syndrome Mimicking Treatment-Resistant Psoriasis: A Case Report
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1
Dermatology Department, Ministry of the National Guard - Health Affairs, Jeddah, Saudi Arabia. King Abdullah International Medical Research Center, Jeddah, Saudi Arabia. King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
2
Medical graduate, College of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia.
3
Department of Preventive Dental Sciences, Division of Pedodontics, College of Dentistry, Jazan University, Jazan, Saudi Arabia.
4
Pediatric Rheumatology Department, Ministry of the National Guard - Health Affairs, Jeddah, Saudi Arabia. King Abdullah International Medical Research Center, Jeddah, Saudi Arabia. King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Under a Creative Commons license
Open Access
Received
June 16, 2026
Revised
July 8, 2026
Accepted
July 11, 2026
Published
July 15, 2026
Abstract

Palmoplantar hyperkeratosis and early-onset aggressive periodontitis are the hallmarks of Papillon–Lefèvre syndrome (PLS), a rare autosomal recessive condition caused by pathogenic variants in the CTSC gene. We report a 9-year-old girl who was born to consanguineous parents and presented with progressive periodontal disease, nail dystrophy, and transgradient palmoplantar keratoderma. Based on clinical and histopathologic findings, she was initially misdiagnosed with psoriasis. Topical and systemic treatments were administered, with only mild improvement observed. A homozygous CTSC variant (c.899G>A; p.Gly300Asp) was subsequently found by whole-exome sequencing, confirming PLS. Partial clinical improvement was achieved with supportive dermatological care and multidisciplinary dental treatment. Early genetic diagnosis allows for appropriate management, and prevents unnecessary systemic immunosuppression. This case highlights the importance of considering PLS in children presenting with early-onset keratoderma and periodontal disease.

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