Papillonlefevre syndrome pls is a rare autosomal recessive. Papillonlefevre syndrome is a rare disease characterized by skin lesions caused by palmar. Nov 01, 2012 pubmed is a searchable database of medical literature and lists journal articles that discuss papillon lefevre syndrome. Click on the link to view a sample search on this topic. A 26 year old patient came to us with no teeth since he was 14 years old. Despite prolonged systemic antibiotic therapy and repeated professional plaque control, the periodontal condition lead to loss of all. The condition leads extensive damage to the periodontium the tissue that surround and support. Activation of granzyme b, a key cytolytic effector molecule of natural killer nk cells, requires removal of an nterminal prodomain. Papillonlefevre syndrome pls is a rare genetically inherited autosomal recessive disorder. 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. On intraoral examination he had no teeth and had removable complete upper and lower dentures. Here, we report on a 67yearold german caucasian male with papillonlefevre syndrome associated with recurrent squamous cell. Pyogenic liver abscess and 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.
Jul 12, 2003 lefevre c, blanchetbardn c, jobard f, bouadjar b, stalder jf, cure s, hoffmann a, prudhomme jf, fischer j. 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 pls was first described by two french physicians, papillon and lefevre, in france. Papillon lefevre syndrome nord national organization for. The periodontal lesions begin shortly after the start of both the primary and the permanent dentitions. Papillon lefevre syndrome is a rare autosomal recessive genetic disorder with a clinical presentation. We highlight the importance of recognising any associated diagnosis, however rare or apparently irrelevant, in an acutely and critically ill child. We have examined two multiplex families with papillonlefevre syndrome, and evaluated the gene. It is transmitted as an autosomal recessive condition and consanguinity of parents is evident in about one. Papillonlefevre syndrome is an extremely rare disorder that affects males and females in equal numbers and is found in all ethnic groups.
Case report of prosthetic treatment of a young patient. A multidisciplinary approach is important in the management of patients with lps. Hyperkeratosis of the palms and soles along with precocious destruction of the periodontal support of both the primary and permanent dentitions were observed. If you have problems viewing pdf files, download the latest version of adobe reader. Papillonlefevre syndrome an autosomal recessive omim. Papillonlefevre syndrome is a rare autosomal recessive disorder characterized by.
Papillonlefevre syndrome jama dermatology jama network. 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. 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. Lefevre syndrome, journal of clinical periodontology. Papillonlefevre syndrome is an extremely rare genetic disorder that typically effects infants of approximately one to 5 years of age. Novel point mutations, deletions and polymorphisms in the cathepsin c gene in nine families from europe and north africa with papillonlefevre syndrome. Papillon lefevre syndrome pls is a rare autosomal recessive. 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. The disease is caused most coomonly by cathepsin c gene mutations leading to the deficiency of cathepsin c enzymatic activity. Papillonlefevre syndrome pls is a rare ectodermal dysplasia characterized by. The condition leads extensive damage to the periodontium the tissue that surround and support the teeth and early loss of milkand permanent dentition. Papillonlefevre syndrome with acroosteolysis sciencedirect. Additionally, associated findings of calcification of the choroid plexus and tentorium have been reported in several cases.
Papillon lefevre syndrome pls is a rare genetically inherited autosomal recessive disorder. Novel point mutations, deletions and polymorphisms in the cathepsin c gene in nine families from europe and north africa with papillon lefevre syndrome. In the general population, the disorder occurs in approximately one to four individuals per million. 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. Papillonlefevre syndrome is a rare autosomal recessive. 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. A case is reported of a boy with papillonlefevre syndrome. Pdf papillonlefevre syndrome pls is a rare autosomal recessive. Create a book download as pdf printable version papillon p.
Lefevre c, blanchetbardn c, jobard f, bouadjar b, stalder jf, cure s, hoffmann a, prudhomme jf, fischer j. The inheritance is autosomal recessive and the point of mutation is the gene for cathepsin c ctcs, a lysosomal protease. Diffuse, hyperkeratotic, fissured plaques with welldefined margins were present on the soles. Papillonlefevre syndrome pfs is a rare autosomal recessive disorder characterized. Jump to content jump to main navigation jump to main navigation. To date, different cathepsin c mutations have been reported in pls patients, all of which are homozygous for a given. Its etiological role hasnt been yet clearly defined and we dont know exactly which immunological, genetic or microbiological factors are. Mutations in the ctsc gene also cause haimmunk syndrome hms. Papillon lefevre syndrome an autosomal recessive omim.
Additionally, associated findings of calcification of the choroid plexus and tentorium have. The etiopathogenesis of the syndrome is relatively obscure, and immunologic, genetic, or possible bacterial etiologies have been proposed. The development of malignant cutaneous neoplasms within the hyperkeratotic lesions of the syndrome is very rare. This paper revisits papillonlefevre syndrome pls, addresses its. Pls was first described by papillon and lefevre 7 in 1924. Papillon lefevre syndrome nord national organization.
A case is reported of a boy with papillon lefevre syndrome. Papillonlefevre syndrome is an extremely rare genodermatosis inherited as an autosomal recessive trait. Multiple cerebral abscesses in papillonlefevre syndrome. Ectopic intracranial calcification, mental retardation, and increased susceptibility to infections often occur. Lefevre syndrome pls is described as the association of palmar. 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.
Neither patient showed evidence of systemic disease as assessed by the medical history and a. Identification of cathepsin c mutations in ethnically diverse. May 18, 20 papillonlefevre syndrome is characterised by palmoplantar keratoderma, periodontitis and pyogenic infections. To date, different cathepsin c mutations have been reported in pls patients, all of which are homozygous for a given mutation. Papillonlefevre syndrome is a rare recessive autosomal syndrome determined by soles and palms hyperkeratosis and periodontal disease. She also noticed that his gingiva would become red, and. On one foot, the eruption extended medially to the metatarsophalangeal joint of the great toe. A 30yearold puerto rican woman sought dermatologic attention because of painful feet.
Papillonlefevre syndrome in four siblings treated with. Treatment is based on oral retinoids which attenuate the palmoplantar. Papillonlefevre syndrome presented by dara ghaznavi, resident of periodontics at tabriz university of medical sciences 2. Pubmed is a searchable database of medical literature and lists journal. Papillonlefevre syndrome pls is a genetically inherited. It is characterized by erythematous palmoplantar hyperkeratosis and earlyonset aggressive periodontitis. Papillon lefevre syndrome synonyms, papillon lefevre syndrome pronunciation, papillon lefevre syndrome translation, english dictionary definition of papillon lefevre syndrome. Papillon lefevre syndrome an overview sciencedirect topics. 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. The parents were unaffected, and parental consanguinity was present. 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.
Papillon lefevre syndrome was first described by two french physicians, papillon and lefevre in 1924. All essential features of the syndrome were present in the series. Papillonlefevre syndrome pls was first described by two french physicians, papillon and lefevre, in france. Papillon lefevre syndrome is an extremely rare genodermatosis inherited as an autosomal recessive trait. Papillonlefevre syndrome definition of papillonlefevre. Papillon lefevre syndrome is an extremely rare disorder that affects males and females in equal numbers and is found in all ethnic groups. 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. 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. 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. The loss of deciduous teeth was a consequence of juvenile periodontitis.
More than 200 cases have been reported in the medical literature. 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. An important point to note is that if retinoid therapy is started during the eruption of the permanent. Palmoplantar keratosis started at the age of 112 years. Papillon lefevre syndrome a rare syndrome treated osteo3d. This is an extremely rare disease with a prevalence of 14 cases per million. 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. Papillonlefevre syndrome causing social stigma a case. The disease is characterized by diffuse ppk and juvenile periodontitis. Males and females are equally affected and there is no racial predominance.
Recently, mutations in the gene encoding cathepsin c have been disclosed in a limited number of families with papillonlefevre syndrome. Papillon lefevre syndrome genetic and rare diseases. Papillonlefevre syndrome synonyms, papillonlefevre syndrome pronunciation, papillonlefevre syndrome translation, english dictionary definition of papillonlefevre syndrome. The papillonlefevre syndrome, inherited in an autosomal recessive pattern, manifests with palmoplantar keratoderma and early, destructive periodontitis. Papillon lefevre syndrome is an extremely rare genetic disorder that typically effects infants of approximately one to 5 years of age.
Papillonlefevre syndrome and squamous cell carcinoma. The papillonlefevre syndrome is characterized by palmarplantar hyperkeratosis and periodontosis occurring in childhood after the eruption of deciduous teeth. In most cases, the ppk is noted within the first 3 years of life. For management of periodontitis, conventional treatment scaling, root. Haimmunk syndrome and papillonlefevre syndrome are allelic. On clinical examination he had severe palmer and plantar hyperkeratosis in his hands and legs. Aug 28, 2009 papillonlefevre syndrome is a rare autosomal recessive genodermatosis characterised by palmoplantar hyperkeratosis and severe earlyonset periodontitis. Introduction papillonlefevre syndrome pls was first described by two french physicians, m. For language access assistance, contact the ncats public. We describe the first case of brain abscess in a child with this syndrome. Of the many palmoplantar keratoderma ppk conditions, only papillonlefevre syndrome pls and haimmunk syndrome hms are associated with premature periodontal destruction. The syndrome should be diagnosed as earlier as possible, so the teeth can be kept longer in the mouth, helping the development of the maxillary bones. Genetic studies have identified a mutation in the major gene locus of chromosome 11q14 with loss of function. Papillon lefevre syndrome with hepatic abscess scitechnol.