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