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

Abstract

Aim. This paper revisits Papillon-Lefèvre syndrome (PLS), addresses its diagnostic update and dental management, and reports a case of a 5-year-old Lebanese patient with consanguineously married parents. Background. PLS, also known as “keratoris palmoplantaris with periodontopathia” and “hyperkeratosis palmoplantaris with periodontosis,” is an extremely rare autosomal-recessive trait that combines a diffuse palmoplantar hyperkeratosis and a severe generalized, progressive prepubertal form of a precocious form of juvenile, aggressive periodontitis. Case Description. We are reporting a 5-year-old boy that sustained a spontaneous loss of all his primary teeth. At consultation, he was under treatment for hyperkeratosis of his palms and soles. Detailed family history of the child revealed that the patient’s parents, grandparents, and relatives were consanguineously married and two of his cousins displayed similar clinical signs (palmoplantar hyperkeratosis and premature loss of deciduous and most of the permanent teeth). Conclusion. PLS is an extremely rare disorder that usually becomes apparent from approximately 1-5 years of age. Genetic counseling should always be suggested to parents of affected children, informing them of chances of their offspring having the inherited disease.

Papillon-lefevere syndrome-Consanguity as a risk factor in siblings (Case series)

“…When 2 such carriers mate, there is a 25% chance of producing affected offspring. 2,4,5 Most of the cases reported so far two siblings affected [1][2][3][4][5][6][7][8][9][10][11][12] except for a few cases in which three or more siblings affected. [3][4][5][6][7][8][9][10][11][12][13] in our case three siblings are affected which is a rare condition.…”

“…It is an ectodermal dysplasia, and a type IV palmoplantar keratosis. [1][2][3] Palmoplantar keratoderma refers to a heterogeneous group of disorders characterized by thickening of the palms and soles, which can be hereditary, acquired, or associated with syndromes. 4,5 In 1924, two French physicians Papillon and Lefevre described a brother and sister with a condition characterized by palmoplantar hyperkeratosis associated with severe, early onset periodontitis and premature loss of primary and permanent teeth.…”

“…Recently identified genetic defect in PLS has been mapped to chromosome11q14-q21, which involves mutations of cathepsin C (CTSC). 1,2,[4][5][6][7] This involved in a wide variety of immune and inflammatory responses by activating serine proteinases expressed in the granules of bone marrow-derived cells from both the myeloid and lymphoid series. This loss of CTSC function and subsequent inactivity of neutrophil serine proteinases may cause deregulation of localized polymorphonuclears response in inflamed periodontal tissues, leading to the severe tissue destruction in PLS.…”

“…Hypermobility, drifting and migration is also seen. 1,2,[4][5][6][7] Both maxillary and mandibular alveolar ridges are highly resorbed resulting in reduced vertical dimension of occlusion and, hence, the patient will have characteristic "denture face" appearance. 7 Other less frequently reported features include psoriasiform plaques of the elbows and knees, nail changes, calcification of the dura, and recurrent pyogenic skin infections.…”

Papillon‐Lefèvre syndrome: Oral aspects and treatment

“…After patients will loss of all deciduous teeth, gingival inflammation disappears, and the oral mucosa takes on a healthy appearance [3]. Usually level of patient's cooperation is low [1].…”