Syndrome de papillon lefevre pdf

Papillon lefevre syndrome a rare syndrome treated with. Pdf on jan 15, 20, marie a congiusta and others published papillonlefevre syndrome find, read and cite all the research you need on. Papillon lefevre syndrome is an extremely rare genodermatosis inherited as an autosomal recessive trait. Papillon lefevre syndrome nord national organization. Pdf papillonlefevre syndrome pls is a rare autosomal recessive disorder, characterized by diffuse palmoplantar keratoderma and precocious. What is the abbreviation for papillon lefevre syndrome. Papillonlefevre syndrome an autosomal recessive omim. Papillonlefevre syndrome is characterized by the development of dry scaly patches of skin hyperkeratosis usually around the age of one to five years. A 26 year old patient with papillion lefevre syndrome came to us with no teeth and had all the classic signs of the syndrome with palmer planter hyperkeratosis. This paper revisits papillonlefevre syndrome pls, addresses its diagnostic update and dental management, and reports a case of a. An eighteen years old sudanese female patient presented with keratotic plaques over the skin of her palms and soles and swollen gums since the age of 4 years with the subsequent loss of most of her primary and permanent dentition. Pdf on jan 15, 20, marie a congiusta and others published papillonlefevre syndrome find, read and cite all the research you need on researchgate. In the general population, the disorder occurs in approximately one to four individuals per million. Periodontitis is severe and destructive affecting both deciduous and permanent dentitions associated with palmoplantar hyperkeratosis.

Numerous treatment regimens for the periodontal disease seen in pls can be found in the literature. Papillon lefevre syndrome is a certain genetic predisposition. Papillonlefevre syndrome pls is a rare genetically inherited autosomal recessive disorder. A case is reported of a boy with papillonlefevre syndrome. Papillonlefevre syndrome, hyperkeratosis, periodontitis, periodontal treatment medecine buccale. The connection between palmar plantar hyperkeratosis and severe periodontal disease was first reported in 1924 by papillon and lefevre. The purpose of this report is give to know our clinical experience in three cases of the papillonlefevre syndrome seen in the hospital in ten years, the clinical characteristics are described and the treatment of patients with this rare illness. This is the third reported case in japan, and this patient did not have abnormal calcification inside the skull. Papillon lefevre syndrome pls was first described by two french physicians, papillon and lefevre, in france. Papillonlefevre syndrome definition of papillonlefevre. A group of symptoms that collectively indicate or characterize a disease, disorder, or other condition considered abnormal. Additionally, associated findings of calcification of the choroid plexus and tentorium have been reported in several cases. Pyogenic liver abscess is an increasingly recognized complication. Papillon lefevre syndrome genetic and rare diseases.

Papillonlefevre syndrome pls is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with earlyonset periodontitis. Papillonlefevre syndrome is a rare autosomal recessive genetic disorder with a. A 26 year old patient came to us with no teeth since he was 14 years old. These patches are usually confined to the undersides of the hands and feet, but may spread to the knees and elbows. The periodontal lesions begin shortly after the start of both the primary and the permanent. The syndrome may be seen in families but generally the parents are asymptomatic carriers of the gene. Pdf on jan 15, 20, marie a congiusta and others published papillon lefevre syndrome find, read and cite all the research you need on. The disorder is inherited by an autosomal recessive trait leading to gene mutation. The disease is caused most coomonly by cathepsin c gene mutations leading to the deficiency of cathepsin c enzymatic activity. To date, different cathepsin c mutations have been reported in pls patients, all of which are. Papillon lefevre syndrome, palmoplantar hyperkeratosis, periodontosis. Papillonlefevre syndrome pls is described as the association of palmarplantar hyperkeratosis with precocious periodontal disease which results in exfoliation of primary and permanent dentitions.

Pals abbreviation stands for papillon lefevre syndrome. In most cases, the ppk is noted within the first 3 years of life. Some of the earlier suspected causes of papillon lefevre syndrome include vitamin a deficiency. Papillon lefevre syndrome, also known as palmoplantar keratoderma with periodontitis, is an autosomal recessive genetic disorder caused by a deficiency in cathepsin c. Despite prolonged systemic antibiotic therapy and repeated professional plaque control, the periodontal condition lead to loss of all. A collection of disease information resources and questions answered.

Papillonlefevre syndrome pls is a rare autosomal recessive disorder, characterized by diffuse palmoplantar keratoderma and precocious. Two of these cases treated with etretinate showed a good response. More than 200 cases have been reported in the medical literature. On clinical examination he had severe palmer and plantar hyperkeratosis in his hands and legs. Papillonlefevre syndrome papillonlefevre syndrome pls is a rare autosomal recessive disorder characterized by severe earlyonset periodontal destruction involving both the deciduous and permanent dentition and skin lesions of palmoplantar hyperkeratosis. A 34 yearold woman presented with complaints of diffuse hyperkeratosis with scaling over both palms and soles with sclerodactyly of all fingers, increased sweating, loss of teeth with periodontitis and recurrent skin infections. Five cases of papillonlefevre syndrome occurring in 2 families were seen to have variable clinical features. Identification of cathepsin c mutations in ethnically. Papillon lefevre syndrome a rare syndrome treated with zygoma implants. Genetic studies have identified a mutation in the major gene locus of chromosome 11q14 with loss of function. Key words papillon lefevre syndrome, palmoplantar hyperkeratosis, periodontosis. This report describes an effective antimicrobial treatment of rapidly progressing periodontitis in an 11. The disorder is characterized by diffuse palmoplantar keratoderma and precocious.