A 26 year old patient came to us with no teeth since he was 14 years old. Of the many palmoplantar keratoderma ppk conditions, only papillonlefevre syndrome pls and haimmunk syndrome hms are associated with premature periodontal destruction. It was first described in 1924 by two french physicians, papillion and lefevre. To date, different cathepsin c mutations have been reported in pls patients, all of which are homozygous for a given. On clinical examination he had severe palmer and plantar hyperkeratosis in his hands and legs. Papillon lefevre syndrome is an autosomal recessive inherited disorder characterized by palmar plantar hyperkeratosis and severe destructive periodontitis due to mutation in cathepsin c gene located on chromosome 11q14. Its etiological role hasnt been yet clearly defined and we dont know exactly which immunological, genetic or microbiological factors are effective in this disease 4 5 6. Papillonlefevre syndrome is an extremely rare disorder that affects males and females in equal numbers and is found in all ethnic groups. Diffuse, hyperkeratotic, fissured plaques with welldefined margins were present on the soles. Both the milk teeth and the permanent teeth are lost prematurely. The periodontal lesions begin shortly after the start of both the primary and the permanent dentitions.
Epidemiology the prevalence is estimated between 1250,000 and 11,000,000 individuals. Papillonlefevre syndrome presented by dara ghaznavi, resident of periodontics at tabriz university of medical sciences 2. Papillonlefevre syndrome pls is a rare genetically inherited autosomal recessive disorder. It is also a keratinization disorder characterized by redness, thickening of the plants and palms of the hands and severe and destructive periodontal disease 7,8. The disease is characterized by palmoplantar hyperkeratosis, loss of deciduous and permanent teeth and increased susceptibility to infections. Papillon lefevre syndrome pls is a rare autosomal recessive disorder of keratinization. Papillonlefevre syndrome pls is a rare autosomal recessive disorder of keratinization, characterized by palmoplantar hyperkeratosis, periodontal involvement and precocious loss of dentition jain et al. Papillon lefevre syndrome pls was first described by two french physicians, papillon and lefevre, in france. A rare case of papillonlefevre syndrome is discussed with clinicoradiological presentation. On one foot, the eruption extended medially to the metatarsophalangeal joint of the great toe. Papillonlefevre syndrome pls is a rare autosomal recessive disorder of keratinization. The etiopathogenesis of the syndrome is relatively obscure, and immunologic, genetic, or possible bacterial etiologies have been proposed. Papillonlefevre syndrome is an extremely rare genodermatosis of autosomalrecessive inheritance which usually manifests itself between the ages.
Papillonlefevre syndrome is characterized by the development of dry scaly patches of skin hyperkeratosis usually around the age of one to five years. Although both pls and hms share the cardinal features of ppk and severe periodontitis, a number of additional findings are reported in hms including arachnodactyly, acroosteolysis, atrophic changes of the nails. On intraoral examination he had no teeth and had removable complete upper and lower dentures. Papillon lefevre syndrome an autosomal recessive omim. Papillonlefevre syndrome pls, palmarplantar keratoderma, periodontitis, premature teeth loss introduction papillonlefevre syndrome pls is a rare autosomal recessive disorder characterized by hyperkeratosis of the palms and soles and severe destructive periodontal disease affecting both the primary and permanent teeth. Some of the earlier suspected causes of papillon lefevre syndrome include vitamin a deficiency. Despite prolonged systemic antibiotic therapy and repeated professional plaque control, the periodontal condition lead to loss of all. Papillonlefevre syndrome is an extremely rare autosomal recessive disorder characterized by severe periodontal disease with hyperkeratosis and fissuring of the palms and soles. A group of symptoms that collectively indicate or characterize a disease, disorder, or other condition considered abnormal. A 34yearold woman presented with complaints of diffuse hyperkeratosis with scaling over both palms. The purpose of the case report is to make the medical community aware of this rare syndrome and its association with consanguinity. Papillonlefevre syndrome, disease, papillonlefevre, papillon lefevre disease, papillon lefevre syndrome, keratosis palmoplantarperiodontopathy. It is transmitted as an autosomal recessive condition and consanguinity of parents is evident in about one. A case is reported of a boy with papillonlefevre syndrome.
Papillon lefevre syndrome, disease, papillon lefevre, papillon lefevre disease, papillon lefevre syndrome, keratosis palmoplantarperiodontopathy. Need to differentiate papillon lefevre syndrome pls from other diseases that show severe periodontitis and dermatological lesions, like haim munk syndrome2 and prepubertal periodontitis onset at a young age and classic incisormolar alveolar bone loss in conjunction with palmoplantar keratosis points towards the diagnosis of pls. The syndrome may be seen in families but generally the parents are asymptomatic carriers of the gene. Pyogenic liver abscess and papillonlefevre syndrome. Papillonlefevre syndrome definition of papillonlefevre. The pathogenesisof pls is secondary to mutation of the cathepsin c gene. Papillonlefevre syndrome is a rare recessive autosomal syndrome determined by soles and palms hyperkeratosis and periodontal disease. Acitretin for papillon lefevre syndrome in a fiveyearold girl. Identification of cathepsin c mutations in ethnically. The patient reported a twoyear history of erythema and scaling of the entire tegument associated with palmoplantar hyperkeratosis.
Pdf on jan 15, 20, marie a congiusta and others published papillon lefevre syndrome find, read and cite all the research you need on. Papillonlefevre syndrome pls is a rare autosomal recessive disorder of keratinization, characterized by palmoplantar hyperkeratosis, periodontal involvement and precocious loss of dentition. The papillonlefevre syndrome is psoriasiform hyperkeratosis of the palms and soles that can overflow onto the dorsal surfaces of the hands and feet. Papillon lefevre syndrome nord national organization. The etiopathogenesis of the syndrome is relatively obscure, and immunologic, genetic, or possible. Papillon lefevre syndrome a rare syndrome treated osteo3d. In most cases, the ppk is noted within the first 3 years of life. Go to the members area of the website of the aedv, s. A 30yearold puerto rican woman sought dermatologic attention because of painful feet. The syndrome of palmarplantar hyperkeratosis and premature periodontal destruction of the teeth. Onset at a young age and classic incisormolar alveolar bone loss in conjunction with palmoplantar keratosis points towards the diagnosis of pls.
Periodontitis is severe and destructive affecting both deciduous and permanent dentitions. Characterization of neutrophil function in papillon. Papillonlefevre syndrome an autosomal recessive omim. Lefevre syndrome pls is a rare disorder characterized by diffuse palmoplantar erythematous, fissured hyperkeratosis, and aggressive periodontal disease that starts in the early periods of childhood. The disorder is inherited by an autosomal recessive trait leading to gene mutation. Papillonlefevre syndrome, hyperkeratosis, periodontitis, periodontal treatment medecine buccale. The papillon lefevre syndrome is psoriasiform hyperkeratosis of the palms and soles that can overflow onto the dorsal surfaces of the hands and feet. Papillonlefevre syndrome is a rare, autosomal recessive disease comprising palmoplantar keratoderma and periodontitis. Papillonlefevre syndrome pls was first described by two french physicians, papillon and lefevre, in france. Papillon lefevre syndrome an overview sciencedirect topics.
Papillonlefevre syndrome is a rare autosomal recessive disorder caused by cathepsin c gene mutation leading to the deficiency of cathepsin c enzymatic activity. Case report of prosthetic treatment of a young patient. Its reported incidence is 14 per million and both the sexes are equally affected1. Haimmunk syndrome and papillonlefevre syndrome are allelic. Papillon lefevre syndrome pls is an autosomal recessive form of palmoplantar ectodermal dysplasia, characterized by palmoplantar hyperkeratosis and severe earlyonset periodontitis. Papillonlefevre syndrome is autosomal recessive in which. It is characterized by erythematous palmoplantar hyperkeratosis and earlyonset aggressive periodontitis. 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. A 34 yearold woman presented with complaints of diffuse hyperkeratosis with scaling over both palms. Papillonlefevre syndrome jama dermatology jama network. It is characterized by palmoplantar hyperkeratosis, periodontopathy and premature loss of deciduous as well as permanent dentition. Dear editor, papillonlefevre syndrome is a rare, autosomal recessive genodermatosis with an estimated prevalence of one to four cases per million people, without sexual or racial predominance. Papillon lefevre syndrome pls is a rare genetically inherited autosomal recessive disorder. Papillon lefevre syndrome pls is a condition characterized by dermatological manifestations and early onset periodontitis.
More than 200 cases have been reported in the medical literature. Pyogenic liver abscess is an increasingly recognized complication. A case is reported of a boy with papillon lefevre syndrome. Genetic studies have identified a mutation in the major gene locus of chromosome 11q14 with loss of function. Notably, neutrophil chemoattractants mip1a and cxcl8 were elevated in papillonlefevre. Papillon lefevre syndrome synonyms, papillon lefevre syndrome pronunciation, papillon lefevre syndrome translation, english dictionary definition of papillon lefevre syndrome. Papillon lefevre syndrome is a certain genetic predisposition.
Papillonlefevre syndrome synonyms, papillonlefevre syndrome pronunciation, papillonlefevre syndrome translation, english dictionary definition of papillonlefevre syndrome. The papillonlefevre syndrome is characterized by palmarplantar hyperkeratosis and periodontosis occurring in childhood after the eruption of deciduous teeth. Additionally, associated findings of calcification of the choroid plexus and tentorium have. Papillon lefevre syndrome pls, also known as palmoplantar keratoderma with periodontitis, is an autosomal recessive genetic disorder caused by a deficiency in cathepsin c. Hence, the manifestations are expressed on the areas of the body covered byepithelium, such as palms, soles, knees and keratinized oral gingiva. Papillonlefevre syndrome pls is a condition characterized by dermatological manifestations and early onset periodontitis. Hyperkeratosis of the palms and soles along with precocious destruction of the periodontal support of both the primary and permanent dentitions were observed. Need to differentiate papillon lefevre syndrome pls from other diseases that show severe periodontitis and dermatological lesions, like haim munk syndrome2 and prepubertal periodontitis. Papillonlefevre syndrome has an autosomal recessive pattern of inheritance.
Additionally, associated findings of calcification of the choroid plexus and tentorium have been reported in several cases. Papillon lefevre syndrome nord national organization for. These patches are usually confined to the undersides of the hands and feet, but may spread to the knees and elbows. Introduction papillonlefevre syndrome pls was first described by two french physicians, m. Nov 01, 2012 papillonlefevre syndrome pls is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with earlyonset periodontitis.
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