ArticleCureus2020
A Mutation in Cathepsin C Gene Causing Papillon-Lefèvre Syndrome in a Saudi Patient: A Case Report.
Article in Cureus, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
3 citing papers in PubMed, 4 citations in OpenAlex.
- Periodontal Effects of the Reversible Dipeptidyl Peptidase 1 Inhibitor Brensocatib in Bronchiectasis.JDR clinical and translational research · 2024Trial
- Clinical characteristics of Papillon-Lefèvre syndrome: A KSA perspective.Journal of Taibah University Medical Sciences · 2025Review
- Papillon-Lefèvre syndrome in dental pediatric patient: A comprehensive review.The Saudi dental journal · 2024Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Papillon-Lefèvre syndrome (PLS) is a rare genetic disease that causes dermatological and dental symptoms that usually start from early age. Dermatological findings include hyperkeratoderma over the palms and soles that are usually thought of as persistent psoriasis at first. Dental findings include severe caries in the teeth that lead to premature dental loss. We present a case of an otherwise healthy seven-year-old child with classical presentation of PLS with both dermatological and dental findings. He first presented to the dermatology clinic when he was five years old brought by his parents complaining of dry scaly patches on the palm of the hands and soles of the feet. On further history it was found that he is a child of first-degree consanguinity, and he had these patches since he was four months old. On examination, he was found to have an erythematous hyperkeratotic skin plaques and papules with scales over the planter and palmar aspect of both hands with similar lesions observed on both feet, legs, scalp, and ears with nail pitting. The diagnosis of PLS was confirmed by whole-exome sequencing (WES) and the patient was started on acitretin capsules and started to show improvement.
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Registered trials
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