The condition leads extensive damage to the periodontium the tissue that surround and support. Papillonlefevre syndrome is characterized by the development of palmarplantar hyperkeratosis and early loss of the primary deciduous and permanent teeth due to rapidly progressive periodontopathy. A 30yearold puerto rican woman sought dermatologic attention because of painful feet. Papillonlefevre syndrome pls is a rare genetically inherited autosomal recessive disorder. The parents were unaffected, and parental consanguinity was present. The papillonlefevre syndrome, inherited in an autosomal recessive pattern, manifests with palmoplantar keratoderma and early, destructive periodontitis.
Treatment is based on oral retinoids which attenuate the palmoplantar. The disease is characterized by diffuse ppk and juvenile periodontitis. Papillonlefevre syndrome causing social stigma a case. Papillon lefevre syndrome is an extremely rare disorder that affects males and females in equal numbers and is found in all ethnic groups. Papillon lefevre syndrome pls is a rare autosomal recessive. Palmoplantar keratosis started at the age of 112 years. A 26 year old patient came to us with no teeth since he was 14 years old. A case is reported of a boy with papillonlefevre syndrome. Hyperkeratosis of the palms and soles along with precocious destruction of the periodontal support of both the primary and permanent dentitions were observed. Jul 12, 2003 lefevre c, blanchetbardn c, jobard f, bouadjar b, stalder jf, cure s, hoffmann a, prudhomme jf, fischer j. For management of periodontitis, conventional treatment scaling, root. Lefevre c, blanchetbardn c, jobard f, bouadjar b, stalder jf, cure s, hoffmann a, prudhomme jf, fischer j. Papillonlefevre syndrome an autosomal recessive omim.
Identification of cathepsin c mutations in ethnically diverse. On clinical examination he had severe palmer and plantar hyperkeratosis in his hands and legs. Papillon lefevre syndrome an overview sciencedirect topics. It is characterized by erythematous palmoplantar hyperkeratosis and earlyonset aggressive periodontitis. All essential features of the syndrome were present in the series. Pubmed is a searchable database of medical literature and lists journal. Here, we report on a 67yearold german caucasian male with papillonlefevre syndrome associated with recurrent squamous cell. Its etiological role hasnt been yet clearly defined and we dont know exactly which immunological, genetic or microbiological factors are. Papillon lefevre syndrome is characterized by the development of palmarplantar hyperkeratosis and early loss of the primary deciduous and permanent teeth due to rapidly progressive periodontopathy. Case report of prosthetic treatment of a young patient.
Papillonlefevre syndrome is an extremely rare genodermatosis inherited as an autosomal recessive trait. Papillon lefevre syndrome with hepatic abscess scitechnol. Mutations in the ctsc gene also cause haimmunk syndrome hms. Papillon lefevre syndrome is a disorder characterized by excessive production of keratin on the palms and soles in combination with severe periodontal destruction. The loss of deciduous teeth was a consequence of juvenile periodontitis. Papillon lefevre syndrome is an extremely rare genodermatosis inherited as an autosomal recessive trait. The periodontal lesions begin shortly after the start of both the primary and the permanent dentitions. 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. Nov 01, 2012 pubmed is a searchable database of medical literature and lists journal articles that discuss papillon lefevre syndrome. Additionally, associated findings of calcification of the choroid plexus and tentorium have. Introduction papillonlefevre syndrome pls is an autosomal recessive disorder characterised by palmoplantar keratoderma and severe, early onset periodontitis, which results from deficiency of cathepsin c activity secondary to mutations in the cathepsin c gene. Papillonlefevre syndrome in four siblings treated with. Papillonlefevre syndrome with acroosteolysis sciencedirect. 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.
The inheritance is autosomal recessive and the point of mutation is the gene for cathepsin c ctcs, a lysosomal protease. Create a book download as pdf printable version papillon p. Pdf papillonlefevre syndrome pls is a rare autosomal recessive. Clinical history as revealed by his mother was that he had normal development and eruption of deciduous teeth, but started losing teeth by the age of 3 years. We highlight the importance of recognising any associated diagnosis, however rare or apparently irrelevant, in an acutely and critically ill child. The condition leads extensive damage to the periodontium the tissue that surround and support the teeth and early loss of milkand permanent dentition. Lefevre syndrome pls is described as the association of palmar. Papillon lefevre syndrome synonyms, papillon lefevre syndrome pronunciation, papillon lefevre syndrome translation, english dictionary definition of papillon lefevre syndrome.
The etiopathogenesis of the syndrome is relatively obscure, and immunologic, genetic, or possible bacterial etiologies have been proposed. It is transmitted as an autosomal recessive condition and consanguinity of parents is evident in about one. 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. To date, different cathepsin c mutations have been reported in pls patients, all of which are homozygous for a given. On one foot, the eruption extended medially to the metatarsophalangeal joint of the great toe. Papillonlefevre syndrome pfs is a rare autosomal recessive disorder characterized. Jump to content jump to main navigation jump to main navigation. A young boy presented to the department of oral medicine and radiology, with a chief complaint of pain and mobility of the lower posterior teeth and difficulty in mastication.
Papillonlefevre syndrome pls is a rare ectodermal dysplasia characterized by. Papillon lefevre syndrome an autosomal recessive omim. We have examined two multiplex families with papillonlefevre syndrome, and evaluated the gene. Oral retinoids, such as acitretin, etretinate, and isotretinoin, have been reported to be beneficial in treating both the cutaneous and dental defects in papillonlefevre syndrome. Males and females are equally affected and there is no racial predominance. Lefevre syndrome, journal of clinical periodontology. Papillonlefevre syndrome is a rare recessive autosomal syndrome determined by soles and palms hyperkeratosis and periodontal disease. Papillon lefevre syndrome genetic and rare diseases. Papillon lefevre syndrome pls was first described by two french physicians, papillon and lefevre, in france. Papillon lefevre syndrome was first described by two french physicians, papillon and lefevre in 1924.
Novel point mutations, deletions and polymorphisms in the cathepsin c gene in nine families from europe and north africa with papillon lefevre syndrome. She also noticed that his gingiva would become red, and. Activation of granzyme b, a key cytolytic effector molecule of natural killer nk cells, requires removal of an nterminal prodomain. Papillon lefevre syndrome is a rare autosomal recessive genetic disorder with a clinical presentation. Pyogenic liver abscess and papillonlefevre syndrome. If you have problems viewing pdf files, download the latest version of adobe reader. We describe the first case of brain abscess in a child with this syndrome. Additionally, associated findings of calcification of the choroid plexus and tentorium have been reported in several cases. In the general population, the disorder occurs in approximately one to four individuals per million. A case is reported of a boy with papillon lefevre syndrome. On intraoral examination he had no teeth and had removable complete upper and lower dentures. Recently, mutations in the gene encoding cathepsin c have been disclosed in a limited number of families with papillonlefevre syndrome. Aug 28, 2009 papillonlefevre syndrome is a rare autosomal recessive genodermatosis characterised by palmoplantar hyperkeratosis and severe earlyonset periodontitis. Papillonlefevre syndrome pls is a genetically inherited.
Multiple cerebral abscesses in papillonlefevre syndrome. Papillonlefevre syndrome pls was first described by two french physicians, papillon and lefevre, in france. 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. Two cases of typical papillonlefevre syndrome in one family were reported. Papillonlefevre syndrome synonyms, papillonlefevre syndrome pronunciation, papillonlefevre syndrome translation, english dictionary definition of papillonlefevre syndrome.
Papillonlefevre syndrome presented by dara ghaznavi, resident of periodontics at tabriz university of medical sciences 2. Diffuse, hyperkeratotic, fissured plaques with welldefined margins were present on the soles. Papillonlefevre syndrome is a rare disease characterized by skin lesions caused by palmar. Click on the link to view a sample search on this topic. Papillon lefevre syndrome pls is a rare autosomal recessive disorder, showing oral and dermatological manifestations in the form of aggressive periodontitis, leading to the premature loss of. This paper revisits papillonlefevre syndrome pls, addresses its. An important point to note is that if retinoid therapy is started during the eruption of the permanent. Pdf on jan 15, 20, marie a congiusta and others published papillon lefevre syndrome find, read and cite all the research you need on researchgate. Of the many palmoplantar keratoderma ppk conditions, only papillonlefevre syndrome pls and haimmunk syndrome hms are associated with premature periodontal destruction. In most cases, the ppk is noted within the first 3 years of life. Despite prolonged systemic antibiotic therapy and repeated professional plaque control, the periodontal condition lead to loss of all. The papillonlefevre syndrome is characterized by palmarplantar hyperkeratosis and periodontosis occurring in childhood after the eruption of deciduous teeth. Papillonlefevre syndrome and squamous cell carcinoma. Oral retinoids, such as acitretin, etretinate, and isotretinoin, have been reported to be beneficial in treating both the cutaneous and dental defects in papillon lefevre syndrome.
Papillon lefevre syndrome nord national organization for. The development of malignant cutaneous neoplasms within the hyperkeratotic lesions of the syndrome is very rare. 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, and a. Novel point mutations, deletions and polymorphisms in the cathepsin c gene in nine families from europe and north africa with papillonlefevre syndrome. Papillonlefevre syndrome is a rare autosomal recessive disorder characterized by. Papillon lefevre syndrome nord national organization. Ectopic intracranial calcification, mental retardation, and increased susceptibility to infections often occur. Wed like to understand how you use our websites in order to improve them. For language access assistance, contact the ncats public. To date, different cathepsin c mutations have been reported in pls patients, all of which are homozygous for a given mutation. Introduction papillonlefevre syndrome pls was first described by two french physicians, m. Papillonlefevre syndrome is a rare autosomal recessive.
This is an extremely rare disease with a prevalence of 14 cases per million. May 18, 20 papillonlefevre syndrome is characterised by palmoplantar keratoderma, periodontitis and pyogenic infections. A multidisciplinary approach is important in the management of patients with lps. At consultation, he was under treatment for hyperkeratosis of his palms. The purpose of this report was to study the immunophenotypic features of the peripheral blood and gingival tissue lymphocytes with monoclonal antibodies in the patient.
More than 200 cases have been reported in the medical literature. The disease is caused most coomonly by cathepsin c gene mutations leading to the deficiency of cathepsin c enzymatic activity. Papillonlefevre syndrome is an extremely rare disorder that affects males and females in equal numbers and is found in all ethnic groups. Papillonlefevre syndrome jama dermatology jama network. Papillonlefevre syndrome pls is a rare autosomal recessive. Neither patient showed evidence of systemic disease as assessed by the medical history and a. Papillon lefevre syndrome pls is a rare genetically inherited autosomal recessive disorder. Haimmunk syndrome and papillonlefevre syndrome are allelic. Genetic studies have identified a mutation in the major gene locus of chromosome 11q14 with loss of function.
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