Papillon Lefevre Syndrome: Diagnosis and Management in Two Affected Siblings – A Case Report

Abul Khair Zalan                                   BDS

Khadeejah Khalil Zubairy                    BDS

Anser Maxood                                       BDS, FRACDS

Manahil Niazi                                          BDS

Hira Zaman                                             BDS, MDS

Anika Gul                                                BDS

Miraat Anser                                           BDS

Papillon-Lefèvre syndrome (PLS) an autosomal recessive disorder characterized by diffuse transgradient palmar-plantar hyperkeratosis, with premature loss of deciduous and permanent teeth, along with the calcification of the dura mater. This results in teeth radiographically appearing as “floating” in the soft tissue. Genetic studies of patients with PLS have mapped the major gene locus to chromosome 11q24-q21 and revealed mutation and loss of function of the cathepsin gene. It affects 1- 4 people per 1 million population with no gender or racial predilection. Dermatological manifestations, usually occurs before four years of age, include hyperkeratosis of palms and soles, nail dystrophy, hyperhidrosis and keratinization on elbows and knees with the lesions appearing as white, yellow-like or red plaques or patches that then develop cracks, crusts, or deep fissures.
KEYWORD: Papillon-lefevre syndrome, hyperkeratosis
HOW TO CITE: Zalan AK, Zubairy KK, Maxood A, Niazi M, Zaman H, Gul A, Anser M. Papillon lefevre syndrome: Diagnosis and management in two affected siblings – A case report. J Pak Dent Assoc 2020;29(4):264-268.
DOI: https://doi.org/10.25301/JPDA.294.264
Received: 23 May 2020, Accepted: 24 August 2020
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