Papillonlefevre syndrome pls, also known as palmoplantar keratoderma with periodontitis. Hereditary leiomyomatosis and renal cell cancer syndrome. Papillon lefevre syndrome pls is a rare autosomal recessive disorder characterized by diffuse palmoplantar keratoderma and precocious aggressively progressing periodontitis, leading to the premature loss of deciduous and permanent teeth. Differential diagnosis may include hypocalcified form of amelogenesis imperfecta, congenital erythropoietic porphyria, kostmanns condition conditions leading to early tooth loss, cyclic neutropenia, chediakhegashi syndrome, histiocytosis x, papillon lefevre syndrome, tetracycline discoloration and staining of the teeth, vitamin ddependent and vitamin drickets.
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. These medical condition or symptom topics may be relevant to medical information for papillon lefevre disease. We reported an 18 year old sudanese female patient, gaali tribe, and another 2 males, brothers ages 10 and 8 years old, presented with diffuse trangrediens palmoplantar keratosis with scaly, nonerythematous, psoriasiformlike transgradient plaque in elbows and knees, and periodontosis, the female patient has been misdiagnosed before as a case of psoriasis and given phototherapy in the form of. Papillon lefevre syndrome is a rare autosomal recessive genetic disorder. Followup radiographs showed successful osseointegration and preservation of alveolar bone 1 year after implant placement and the. Papillon lefevre syndrome genetic and rare diseases. Papillonlefevre syndrome pls is a rare autosomal recessive disorder first described by two french physicians, papillon and lefevre in 1924. Haimmunk syndrome nord national organization for rare. Paulus, dds pediatric dentistry resident april, 2009 slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. Identification of novel mutation in cathepsin c gene. Key words papillon lefevre syndrome, palmoplantar hyperkeratosis, periodontosis. The disease is characterized by palmoplantar hyperkeratosis, loss of deciduous and permanent teeth and increased susceptibility to.
Recently identified genetic defect in pls has been. Pubmed is a searchable database of medical literature and lists journal articles that discuss papillon lefevre syndrome. Papillon lefevre syndrome pls is a rare autosomal recessive disorder, characterized by diffuse palmoplantar keratoderma and precocious aggressive periodontitis, leading to premature loss of deciduous and permanent dentition at a very young age. Two titanium dental implants were placed in the mandible for an implantretained denture after the patient complained of having an unstable prosthesis. Papillonlefevre syndrome presented by dara ghaznavi, resident of periodontics at tabriz university of medical sciences 2. Papillonlefevre syndrome pls is a rare autosomal recessive disorder of keratinisation, characterized by palmoplantar hyperkeratosis, periodontitis and early loss of dentition. The etiopathogenesis of the syndrome is relatively obscure, and immunologic, genetic, or possible bacterial etiologies have been proposed. Papillonlefevre syndrome pls is an autosomal recessive form of palmoplantar ectodermal dysplasia, characterized by palmoplantar hyperkeratosis and severe earlyonset periodontitis. Papillonlefevre syndrome pls is a rare autosomal recessive disorder, characterized by diffuse palmoplantar keratoderma and precocious. Munford is a major, usaf dc, and presently a graduate student in oral surgery, university of texas health science center at houston. 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. Papillon lefevre syndrome an autosomal recessive omim.
Oral examination disclosed an edentulous maxilla and only eight teeth in the mandible. Papillonlefevre syndrome pls was first described by two french physicians, papillon and lefevre, in france. Papillon lefevre syndrome pls is an autosomal recessive disorder characterized by palmoplantar hyperkeratosis and rapidly progressive periodontitis, leading to premature loss of both deciduous and permanent teeth. Papillonlefevre syndrome is a rare autosomal recessive disorder caused by cathepsin c gene mutation leading to the deficiency of cathepsin c enzymatic activity. Papillonlefevre syndrome medical condition youtube. Germline mutations in the lysosomal protease cathepsin c gene have been described in a single patient with hms and in several individuals with the clinically related disorder papillon lefevre syndrome pls. Papillonlefevre syndrome is characterized by the development of dry scaly patches of skin hyperkeratosis usually around the age of one to five years. May 02, 2015 symptoms, risk factors and treatments of papillonlefevre syndrome medical condition papillonalefa. The disorder is inherited by an autosomal recessive trait leading to gene mutation. The periodontal lesions begin shortly after the start of both the primary and the permanent dentitions.
This paper presents a report of 2 cases of papillon lefevre syndrome in which diagnosis is based on clinical presentation and genetic mapping. Papillonlefevre syndrome is a rare autosomal recessive genetic disorder which is characterized by palmar plantar hyperkeratosis with precocious. Papillonlefevresyndrom keratosis palmoplantaris diffusa mit periodontopathie. 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. Pdf dental implants in a young patient with papillon. Papillon lefevre syndrome pls is a condition characterized by dermatological manifestations and early onset periodontitis. Papillon lefevre syndrome, hereditary hyperkeratosis with. Use of lateral cephalometric analysis in diagnosing. Haimmunk syndrome is a rare genetic disorder that affects males and females in equal numbers.
Get online advice on papillon lefevre syndrome from wide range of doctors and health experts. It is characterized by redness and thickening of the palms and soles, along with extensive. Papillon lefevre syndrome is a certain genetic predisposition. Papillonlefevre syndrome pls, also known as palmoplantar keratoderma with periodontitis, is an autosomal recessive genetic disorder caused by a deficiency in cathepsin c.
A case is reported of dental implant placement in a yearold patient diagnosed with papillon lefevre syndrome. Papillonlefevre syndrome pls is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with earlyonset periodontitis. The disease is characterized by palmoplantar hyperkeratosis, loss of deciduous and permanent teeth and increased susceptibility to infections. This is the third reported case in japan, and this patient did not have abnormal calcification inside the skull. Both the milk teeth and the permanent teeth are lost prematurely. The syndrome is a rare autosomal recessive trait with an estimated prevalence of.
The following list attempts to classify papillon lefevre disease into categories where each line is subset of the next. More than 200 cases have been reported in the medical literature. The condition leads extensive damage to the periodontium the tissue that surround and support. The full text of this article is available in pdf format.
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. The reproducibility and validity of furcation measurements using a pressurecalibrated probe. Papillon lefevre syndrome synonyms, papillon lefevre syndrome pronunciation, papillon lefevre syndrome translation, english dictionary definition of papillon lefevre syndrome. Association of recurrent infections, arachnodactyly, intracranial calcification and phalangeal abnormality have been. Typically they are without menstrual periods, do not develop breasts, and are unable to have children. It was first described in 1924 by two french physicians, papillion and lefevre. Pdf oral rehabilitation of a case of papillonlefevre. The papillonlefevre syndrome pls is an autosomal recessive trait characterized by diffuse transgredient palmarplantar keratosis ppk and premature loss of both the deciduous and permanent teeth. Papillonlefevre disease papillonlefevre syndrome disease, papillonlefevre papillon lefevre disease papillon lefevre syndrome syndrome, papillonlefevre.
Papillon lefevre syndrome pls, also known as palmoplantar keratoderma with periodontitis, is an inherited disorder of keratinisation. Papillonlefevre syndrome is a rare autosomal recessively inherited condition which. 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 rare autosomal recessive condition characterized by palm oplantar keratodeama and severe early onset of periodontitis described for the first time in the year 1924 by the french scientists papillion and lefevre. Papillon lefevre syndrome pls is a rare genetically inherited autosomal recessive disorder. Dental implants in a young patient with papillon lefevre syndrome. Onset at a young age and classic incisormolar alveolar bone loss in conjunction with palmoplantar keratosis points towards the diagnosis of pls. Mutation analysis of the cathepsin c gene in indian. We use cookies to offer you a better experience, personalize content, tailor advertising, provide social media features, and better understand the use of our services.
Papillon lefevre syndrome, disease, papillon lefevre, papillon lefevre disease, papillon lefevre syndrome, keratosis palmoplantarperiodontopathy. Introduction papillonlefevre syndrome pls was first described by two french physicians, m. Need to differentiate papillon lefevre syndrome pls from other diseases that show severe periodontitis and dermatological lesions, like haim munk syndrome 2 and prepubertal periodontitis. Ask a question and learn more about papillon lefevre syndrome at. 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 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.
In most cases, the ppk is noted within the first 3 years of life. A case report filiz acun kaya 1, zelal seyfioglu polat 2, esma akuzum baran 3, gulucag giray tekin 4 1 assistant professor, dicle university, faculty of dentistry department of periodontology, diyarbakir, turkey. Papillonlefevre syndrome is an extremely rare disorder that affects males and females in equal numbers and is found in all ethnic groups. The disease is characterized by palmoplantar hyperkeratosis, periodontopathy and. 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. 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.
It was first described by two french physicians, papillon and lefevre in 1924 1. Orphanet is a european reference portal for information on rare diseases and orphan drugs. The syndrome is a rare autosomal recessive trait with an estimated prevalence of one to four cases per million persons. Pls is an extremely rare disorder that usually becomes apparent from approximately 15 years of age. Papillon lefevre syndrome nord national organization. Oaa uzkurt p, tanyel fc, buyukpamukcu n, hicsonmez a 1996 increased risk of pyogenic liver abscess in children with papillonlefevre syndrome. Papillon lefevre syndrome is a disorder characterized by excessive production of keratin on the palms and soles in combination with severe periodontal destruction. Abstract papillonlefevre syndrome pls is a rare autosomal recessive disorder of keratinization caused by homozygous mutations in the. Papillonlefevre syndrome pls is an autosomal recessive form of palmoplantar ectodermal. Mild keratoderma of the palms and psoriasiform patches on the arms were also noted. Lefevre syndrome, presented with a premature loss of both deciduous and permanent teeth and hyperkeratosis palmaris et. This is a temporary file and hence do not link it from a website, instead link the url of this page if you wish to link the pdf file. The pathogenesisof pls is secondary to mutation of the cathepsin c gene.
Pdf the role of cathepsin c in papillonlefevre syndrome. 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. Hierarchical classifications of papillon lefevre disease. The clinical manifestations include palmer planter hyperkeratosis with precocious progressive periodontal disease that results in premature exfoliation of primary and permanent dentitions. The etiology of pls is multifactorial with genetic, immunological, and microbial factors playing a role in etiopathogenesis. Papillon lefevre syndrome, periodontitis, hyperkeratosis. Papillonlefevre syndrome causing social stigma international. Papillonlefevre syndrome article about papillonlefevre. A 34 yearold woman presented with complaints of diffuse hyperkeratosis with scaling over both palms.
Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. Papillon lefevre syndrome pls, also known as palmoplantar keratoderma with periodontitis, is an autosomal recessive genetic disorder caused by a deficiency in cathepsin c. Papillon lefevre syndrome with hepatic abscess scitechnol. Papillonlefevre syndrome is a rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and aggressively progressing. Nov 01, 2012 a collection of disease information resources and questions answered by our genetic and rare diseases information specialists for papillon lefevre syndrome. The purpose of this report was to study the immunophenotypic features of the peripheral blood and gingival.
This is a temporary file and hence do not link it from a website, instead link the url of this page if you wish to link the pdf. Full mouth rehabilitation with implant supported fixed prosthesis provides numerous advantages over the conventional denture in terms of esthetics. Papillonlefevre syndrome definition of papillonlefevre. Jun 16, 2010 papillonlefevre syndrome pls is characterized by hyperkeratosis of hands and feet and by a generalized aggressive periodontitis in both the primary and the permanent dentition. The syndrome may be seen in families but generally the parents are asymptomatic carriers of the gene. Some of the earlier suspected causes of papillon lefevre syndrome include vitamin a deficiency. The disorder is characterized by diffuse palmoplantar keratoderma and precocious. Papillonlefevre syndrome with homozygous nonsense mutation.
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