Nov 01, 2012 pubmed is a searchable database of medical literature and lists journal articles that discuss papillon lefevre syndrome. Recently identified genetic defect in pls has been. Haimmunk syndrome is a cutaneous condition caused, like papillon lefevre syndrome, by a mutation in the cathepsin c gene. Both the milk teeth and the permanent teeth are lost prematurely. Mild keratoderma of the palms and psoriasiform patches on the arms were also noted. More than 200 cases have been reported in the medical literature. May 18, 20 papillonlefevre syndrome is characterised by palmoplantar keratoderma, periodontitis and pyogenic infections. Pdf on jan 15, 20, marie a congiusta and others published papillonlefevre syndrome find, read and cite all the research you need on. Fullmouth rehabilitation with calvarium bone grafts and. At consultation, he was under treatment for hyperkeratosis of his palms. Dec 30, 2009 papillon lefevre syndrome was first described by two french physicians, papillon and lefevre in 1924. Oral examination disclosed an edentulous maxilla and only eight teeth in the mandible. Papillonlefevre syndrome is an extremely rare disorder that affects males and females in equal numbers and is found in all ethnic groups. Get online advice on papillon lefevre syndrome from wide range of doctors and health experts.
Keratosispalmoplantarisassociatedwithearlyonsetperiodontitis. Hyperkeratosis of the palms and soles along with precocious destruction of the periodontal support of both the primary and permanent dentitions were observed. Treatment of patient with papillonlefevre syndrome with. In most cases, the ppk is noted within the first 3 years of life. For language access assistance, contact the ncats public information officer. Jump to content jump to main navigation jump to main navigation. These findings are consistent with papillonlefevre syndrome. Haimmunk syndrome is a rare genetic disorder that affects males and females in equal numbers.
Its etiological role hasnt been yet clearly defined and we dont know exactly which immunological, genetic or microbiological factors are. Mutation analysis of the cathepsin c gene in indian families. The disorder is characterized by diffuse palmoplantar keratoderma and precocious. What links here related changes upload file special pages permanent link page. Papillonlefevre syndrome is a rare autosomal recessive genetic disorder with a clinical presentation which includes palmer planter keratoderma associated with the precocious progressive periodontal disease that results in early exfoliation of both the primary and permanent dentitions. Reports from celenligil et al and gongora et al document decreased. It is also referred to as chime syndrome, after its main symptoms colobomas, heart defects, ichthyosiform dermatosis, intellectual disability, and either ear defects or epilepsy. Papillon lefevre syndrome an autosomal recessive omim. Dental management of patients with pls is usually challenging because of early excessive loss of alveolar bone support. Papillonlefevre syndrome pls, also known as palmoplantar keratoderma with periodontitis, is an autosomal recessive genetic disorder caused by a deficiency in cathepsin c. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Recently, it has been proved that a mutation at cathepsin gene c is the genetic cause of pls. The loss of deciduous teeth was a consequence of juvenile periodontitis. Epidemiology the prevalence is estimated between 1250,000 and 11,000,000 individuals.
A otorhinolaryngology pdf novel mutation of cathepsin c gene in papillon lefevre syndrome. Papillonlefevre syndrome pls is a rare autosomal recessive disorder of keratinization. Activation of granzyme b, a key cytolytic effector molecule of natural killer nk cells, requires removal of an nterminal prodomain. The syndrome may be seen in families but generally the parents are asymptomatic carriers of the gene. Papillonlefevre syndrome hanumanthappa h, ganesh k k. It is believed to be of autosomal recessive inheritance. Papillonlefevre syndrome article about papillonlefevre. Twasunesco associateship scheme at centres of excellence. Multiple cerebral abscesses in papillonlefevre syndrome. Papillon lefevre syndrome pls is a rare autosomal recessive disorder presented with diffuse transgradient palmoplantar hyperkeratosis, and an aggressive periodontal inflammation leading to premature loss of primary and permanent teeth. The periodontal lesions begin shortly after the start of both the primary and the permanent dentitions. Papillonlefevre syndrome pls is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with earlyonset periodontitis. Papillon lefevre syndrome pls is a rare recessive autosomal disease which occurs with palms and soles hyperkeratosis as well as primary and permanent teeth periodontal loss. Hence, the manifestations are expressed on the areas of the body covered byepithelium, such as palms, soles, knees and keratinized oral gingiva.
On clinical examination he had severe palmer and plantar hyperkeratosis in. In papillon lefevre syndrome, the development and eruption of the deciduous teeth proceed normally but eruption is associated with gingival inflammation and subsequent rapid destruction of the periodontium resulting in premature exfoliation of primary teeth by age 4 years. Papillon lefevre syndrome, disease, papillon lefevre, papillon lefevre disease, papillon lefevre. If you have problems viewing pdf files, download the latest version of adobe reader link is external. It is a congenital syndrome with only a few cases studied and published. Related laboratory test for neuro, anatomical, pathological, microbiological and medical biotechnology in clinical research areas. Certainly one of the most intriguing and dentally challenging of these conditions is papillonlefevre syndrome. Dental treatment consisted of systemic amoxicillin 500 mg, thrice daily and metronidazole 400 mg, thrice daily for 1 week along with patient. The pathogenesisof pls is secondary to mutation of the cathepsin c gene. A 34 yearold woman presented with complaints of diffuse hyperkeratosis with scaling over both palms. Papillonlefevre syndrome presented by dara ghaznavi, resident of periodontics at tabriz university of medical sciences 2. Papillon lefevre syndrome a rare syndrome treated osteo3d. Papillonlefevresyndrom keratosis palmoplantaris diffusa mit periodontopathie. The pathognomonic dental features of pls are pathologic migration, hypermobility, and exfoliation of the teeth without any signs of root.
Early diagnosis and treatment is important to allow for prompt treatment to prevent longterm consequences such as tooth loss. Papillonlefevre syndrome pls is a rare ectodermal dysplasia characterized by. Papillon english pdf download papillon english pdf download papillon english pdf download download. National center for advancing translational sciences ncats, 6701 democracy boulevard, bethesda md 208924874 3014350888. A clinical and genetic analysis of the papillonlefevre syndrome. Papillon lefevre syndrome pls is a rare autosomal recessive heterogeneous trait which is characterized by erythematous palmoplantar hyperkeratosis, earlyonset periodontitis, and associated calcification of dura mater. We describe the first case of brain abscess in a child with this syndrome. Periodontosis, premature loss of primary and adult teeth, hypodontia. We are determined to keep this website freely accessible. In the general population, the disorder occurs in approximately one to four individuals per million.
The syndrome of palmarplantar hyperkeratosis and premature periodontal destruction of the teeth. Ask a question and learn more about papillon lefevre syndrome at. Click on the link to view a sample search on this topic. Papillon lefevre syndrome pls is a rare autosomal recessive disorder of keratinization associated with palmoplantar keratoderma and severe periodontitis resulting in complete edentulism in late adolescence.
We highlight the importance of recognising any associated diagnosis, however rare or apparently irrelevant, in an acutely and critically ill child. Papillonlefevre syndrome is a rare autosomal recessive genetic disorder with a clinical presentation. What links here related changes upload file special pages permanent link. The parents were unaffected, and parental consanguinity was present. Papillonlefevre syndrome pls is a rare autosomal recessive. It was translated into english from the original french by june p. An autosomal recessive disorder characterized by palmoplantar keratosis and severe periodontitis affecting deciduous and permanent dentitions and resulting in premature tooth loss. In mexico, the prevalence of this syndrome is unknown, and there are few case reports. This paper revisits papillonlefevre syndrome pls, addresses its.
The etiopathogenesis of the syndrome is relatively obscure, and immunologic, genetic, or possible. The palmoplantar keratotic phenotype vary from mild psoriasiform scaly skin to overt hyperkeratosis. Jan 11, 20 papillonlefevre syndrome pls is a type iv genodermatosis caused by mutations in cathepsin c ctsc, with a worldwide prevalence of 14 cases per million in the general population. Papillonlefevre syndrome pls is a rare autosomal recessive disorder first described by two french physicians, papillon and lefevre in 1924. Papillon lefevre syndrome is a certain genetic predisposition. On clinical examination he had severe palmer and plantar hyperkeratosis in his hands and legs. If you have problems viewing pdf files, download the latest version of adobe reader. Papillonlefevre syndrome pls was first described by two french physicians, papillon and lefevre, in france. Main features of pls are hyperkeratosis of palms and soles concomitant with premature loss of primary and permanent dentition due to progressive periodontitis. Zunichkaye syndrome, also known as zunich neuroectodermal syndrome, is a rare congenital ichthyosis first described in 1983. This is an extremely rare disease with a prevalence of 14 cases per million. Papillon lefevre syndrome pls is an autosomal recessive disorder. Papillonlefevre syndrome pls is a rare autosomal recessive disorder. Feb 24, 2000 to ensure longterm funding for the omim project, we have diversified our revenue stream.
The diagnosis of twenty patients in the state of sinaloa highlights the need to characterize this syndrome in mexicans. Papillon lefevre syndrome pls is a condition characterized by dermatological manifestations and early onset periodontitis. The etiopathogenesis of the syndrome is relatively obscure, and immunologic, genetic, or possible bacterial etiologies have been proposed. Pdf papillonlefevre syndrome pls is a rare autosomal recessive disorder, characterized by diffuse palmoplantar keratoderma and precocious. Papillonlefevre syndrome is a rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and aggressively progressing periodontitis leading to premature loss of deciduous and permanent dentition. Citescore measures average citations received per document published. The disorder is named after the investigators haim s, munk j who originally reported the disease entity in 1965 among members of an extended jewish family kindred from cochin, india.
Abstractpapillon lefevre syndrome pls is an autosomal recessive genetic disorder characterized by palmoplantar hyperkeratosis associated with severe earlyonset periodontitis and premature loss of primary and permanent teeth. Lefevre c, blanchetbardn c, jobard f, bouadjar b, stalder jf, cure s, hoffmann a, prudhomme jf, fischer j. Notwithstanding this treatment do not scope the disease itself. Papillonlefevre syndrome disease, papillonlefevre papillon lefevre disease papillon lefevre syndrome syndrome, papillonlefevre. Paulus, dds pediatric dentistry resident april, 2009 slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. Faculty of medicine, shahid beheshti medical university sbums, evin, tehran, iran research activities. Palmoplantar keratosis started at the age of 1 1 2 years. Papillonlefevre syndrome pls, also known as palmoplantar keratoderma with periodontitis. Conclusion this report has shown successful 1year followup of implant osseointegration and alveolar bone preservation in a papillon lefevre syndrome patient wearing a functional implantretained overdenture. Papillon lefevre syndrome nord national organization for. Pdf on jan 15, 20, marie a congiusta and others published papillon lefevre syndrome find, read and cite all the research you need on. It was first described in 1924 by two french physicians, papillion and lefevre.
Papillonlefevre syndrome jama dermatology jama network. Introduction papillonlefevre syndrome pls was first described by two french physicians, m. The estimated prevalence of the syndrome is 14 cases per million individuals1. If you have problems viewing pdf files, download the latest version of adobe. For language access link is external assistance, contact the ncats public information officer link is external. Papillonlefevre syndrome pls is an autosomal recessive disorder that typically becomes apparent from one to five years of age, which coincides with the timing of eruption of primary dentition. The disorder is inherited by an autosomal recessive trait leading to gene mutation.
A 26 year old patient came to us with no teeth since he was 14 years old. 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. Dental implants in a young patient with papillonlefevre. Polychondritis praderwilli syndrome pten hamartoma tumor syndrome phts papillitis periventricular leukomalacia polydactyly all types. Munford is a major, usaf dc, and presently a graduate student in oral surgery, university of texas health science center at houston.
The patient is the youngest child of consanguinous parents, and she has had symmetrical hyperkeratotic plaques on both plantar surfaces since birth with a history of chronic gingivitis, periodontitis, and premature loss of primary dentition. Papillonlefevre syndrome definition of papillonlefevre. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for papillon lefevre syndrome. Characterization of neutrophil function in papillon. Haimmunk syndrome nord national organization for rare. Sep 22, 2016 papillonlefevre syndrome is a rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and aggressively progressing periodontitis leading to premature loss of deciduous and permanent dentition. Case report of prosthetic treatment of a young patient.
Papillon lefevre syndrome pls is a rare genetically inherited autosomal recessive disorder. Papillonlefevre syndrome was first described by two french physicians, papillon and lefevre in 1924. All primary and permanent teeth of the patients are lost at ages 2 or 3 because of serious alveolar bone destruction. If you have problems viewing pdf files, download the latest version of adobe reader link is external for language access link is external assistance, contact the ncats public information officer link is external national center for advancing translational sciences ncats, 6701 democracy boulevard, bethesda md 208924874 3014350888. It was first described by papillon and lefevre in 1924. 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.
Treatment of pls includes keratolytics such as urea andor salicylic acid combined with oral retinoids. Papillon lefevre syndrome genetic and rare diseases information. Additionally, associated findings of calcification of the choroid plexus and tentorium have been reported in several cases. The papillonlefevre syndrome is characterized by palmarplantar hyperkeratosis and periodontosis occurring in childhood after the eruption of deciduous teeth. 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 is a rare recessive autosomal syndrome determined by soles and palms hyperkeratosis and periodontal disease. Males and females are equally affected and there is no racial predominance. Treatment is based on oral retinoids which attenuate the palmoplantar. Some of the earlier suspected causes of papillon lefevre syndrome include vitamin a deficiency. Papillon lefevre syndrome genetic and rare diseases. Hyperkeratosis palmoplantaris with transgression onto the elbows and the knees, as well as other areas, hypotrichosis, nail fragility, ectopic intracranial essentially dura mater calcifications, eyelid cysts.
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