Papillon-Lefevre syndrome

The Papillon-Lefevre syndrome, also known as palmoplantar keratosis with periodontal disease, it is an autosomal genetic disease, caused by a deficiency of cathepsin C.

It was first described by French physicians Papillon and Lefevre in 1924. It is estimated that this disease affects 1-4 in every one million individuals worldwide, regardless of gender or ethnicity, with inbreeding in approximately one third of the cases described.

This genetic disorder is caused by a mutation in the gene responsible for encoding cathepsin C, a lysosomal protease also known as dipetidil peptidase 1, in which the gene is expressed in the epithelial region typically affected in this syndrome. Cathepsin C is also observed in immune system, comprising polymorphonuclear leukocytes, macrophages and their precursors, which in this condition are changed.

The clinical manifestations present in this syndrome include diffuse palmoplantar keratoderma with juvenile periodontal disease and premature loss of deciduous teeth.

The skin changes commonly are initiated within the first four years of age, characterized by hyperkeratosis, dry skin, peeling, cracking skin deep and painful, brittle nails, thin hair and sparse, generalized hypohidrosis.

Regarding changes in the oral cavity can be halitosis, destruction of the alveolar bone, the cortical bone calcification, pathologic tooth mobility and migration, reddened gums, and premature loss of deciduous teeth.

Other symptoms that may be present are: microphthalmia, intracranial calcification, osteoporosis, arachnodactyly, liver and kidney dysfunction and mental retardation.

In Brazil there are no genetic tests available for this syndrome. Therefore, the diagnosis is essentially physician.

Treatment

The treatment is based on the implementation of periodontal preventive and therapeutic procedures, comprising rigorous oral hygiene, in association with a suitable orientation dental periodontal treatment, and the treatment of skin lesions, which is done with the use of emollients and keratolytic agents. Another important factor is food and should be adopted a proper diet as well as elimination of any intercurrent systemic factor.