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