Papillon‐Lefevre Syndrome

Abstract

Papillon-Lefevre syndrome in six Saudi children in the same family is described. The parents were unaffected, and parental consanguinity was present. Palmoplantar keratosis started at the age of 1 1/2 years. The loss of deciduous teeth was a consequence of juvenile periodontitis. All essential features of the syndrome were present in this series.

Papillon-Lefèvre Syndrome: Diagnosis, Dental Management, and a Case Report

“…In their original paper, back in 1924, Papillon and Lefèvre reported [1] the case of two siblings who were the products of a first-cousin mating, and the condition described in their paper featured two hallmarks which were a premature loss of deciduous and permanent dentitions and diffuse transgradient palmoplantar keratosis. Consanguinity is now recognized as a risk factor [12] for PLS, and many articles reported PLS cases in the same family [13–15]. Considering that consanguineous marriage is customary in Lebanese society, potential parents are to be warned that this leads to an increased birth prevalence of infant with severe recessive disorders; consequently, this kind of marriage should be discouraged, and genetic counseling should be advocated.…”

Papillon–Lefèvre syndrome: clinical presentation and management options

“…Other findings are retardation of somatic development, follicular keratosis and hyperhidrosis (bromhidrosis), nail dystrophy, and calcification of falx cerebri and choroid plexus. 40 …”

Papillon-Lefèvre syndrome and squamous cell carcinoma: a case report

“…Other areas, including cheeks, eyelids, labial commissures, legs, thighs, knees, and elbows, can be affected by the keratosis, although it varies significantly [1,2]. PLS usually manifests itself between the ages of 6 months to 4 years, coinciding with the eruption of primary teeth and leads to premature loss of both primary and permanent dentitions [1,3]. The soles of the feet are more severely affected than the hands, and erythema always precedes hyperkeratosis.…”

“…The soles of the feet are more severely affected than the hands, and erythema always precedes hyperkeratosis. The skin lesions are aggravated during cold weather and at times of severe periodontal involvement [1-3]. PLS is differentiated from other conditions showing similar oral or cutaneous clinical features by the presence of the palmoplantar hyperkeratosis [4].…”

“…In 1924, Papillon and Lefèvre first described this disease in a brother and sister [6]. Over 200 cases have been observed and the prevalence of affection is reported to be 1-4:1.000.000 with a carrier rate of 2 to 4 per 1000 [2,3,7] PLS is associated with cathepsin-C gene mutations and the gene responsible has been mapped to chromosome 11q14-q21, and more than 50 mutations in PLS patients have been identified in this gene; this may be due to specific virulent pathogens [8-10]. Variation in the clinical presentation of PLS has been observed [11-13].…”