Papillonlefevre syndrome pls is a very rare genodermatosis of autosomal recessive inheritance. The syndrome may be seen in families but generally the parents are asymptomatic carriers of the gene. Papillon lefevre syndrome an autosomal recessive omim. It was first described in 1924 by two french physicians, papillion and lefevre. Treatment of papillon lefevre syndrome periodontitis. Click on the link to view a sample search on this topic. The clinical presentation, differential diagnosis, therapeutic and periodontal management of an 8year old male child diagnosed with this syndrome is discussed. Deep periodontal pocket formation precedes the loss of the teeth. Clinical findings reported in papillon lefevre patients suggest that the clinical expression of the condition is highly variable. The disorder is inherited by an autosomal recessive trait leading to gene mutation.
Papillonlefevre syndrome is an extremely rare disorder that affects males and females in equal numbers and is found in all ethnic groups. Papillon lefevre syndrome an overview sciencedirect topics. Polski 2012, pdf russian 2012, pdf suomi 2012, pdf. The importance of early diagnosis of plsassociated periodontitis and use of appropriate treatment methods should be recognized. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. Papillonlefevre syndrome an autosomal recessive omim. Pubmed is a searchable database of medical literature and lists journal articles that discuss papillon lefevre syndrome. Nov 01, 2012 pubmed is a searchable database of medical literature and lists journal articles that discuss papillon lefevre syndrome. Medicine, pediatrics, papillonlefevre syndrome, hyperkeratosis, periodontal disease, children, immunology. The patients mother declined a request for a biopsy of the lesions. Papillon lefevre syndrome genetic and rare diseases. Papillonlefevre syndrome pls is a rare autosomal recessive.
Clinical findings reported in papillonlefevre patients suggest that the clinical expression of the condition is highly variable. Arocha lc, wakszol e, larotta e, rodriguez mc, arreaza lr, millan mc, adencio c, rodriguez j, del nogal b. Papillonlefevre syndrome pls is a rare ectodermal dysplasia. Papillonlefevre syndrome pls is a rare genetically inherited autosomal recessive disorder. Pdf on jan 15, 20, marie a congiusta and others published papillon lefevre syndrome find, read and cite all the research. Psoriasiform hyperkeratosis can overflow onto the dorsal surfaces of the hands and feet.
Papillon lefevre syndrome periodontal disease palmoplantar hyperkeratosis quimiotaxis catepsin c. Palmoplantar hyperkeratosis, periodontitis, papillonlefevre syndrome acitretin. Papillon lefevre syndrome nord national organization for. Papillonlefevre 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. A clinical and genetic analysis of the papillonlefevre syndrome. Dentists play a significant role in the diagnosis and management of pls as. It is characterized by diffuse hyperkeratosis involving the palms and soles of the feet. Papillon lefevre syndrome pls is a rare genetically inherited autosomal recessive disorder.
Papillon lefevre enfermedades raras y patologias poco comunes. Dermatologic and oral findings in a cohort of 47 patients with papillonlefevre syndrome. Lower anterior teeth do not improve and bone loss is. It is an aggregation of multiple low attenuation liver lesions in a localised area to form a solitary larger abscess cavity. At consultation, he was under treatment for hyperkeratosis of his palms and soles. Periodontal disease associated to systemic genetic disorders. Alejandro perez asenjo, juan velez soldevilla, miguel carasol campillo, francisco javier alandez chamorro localizacion. Papillonlefevre syndrome definition of papillonlefevre. Keratosis palmoplantaris associated with periodontopathy or papillon lefevre syndrome is a very rare genetic disorder with autosomal recessive mode of inheritance and is characterized by hyperkeratosis of the palms and soles and early onset of a severe destructive periodontitis. In connective tissue disorders, bacterial plaque and alterations of the. This file contains additional information such as exif metadata which may have been added by the digital camera, scanner, or software program used to create or digitize it. 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. Successful periodontal maintenance of a case with papillonlefevre syndrome.
The hiperuqeratosis mandibular first permanent molar appeared almost entirely out of its socket without any bone support giving the tooth a floatinginair appearance fig. 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. Dec 21, 2019 successful periodontal maintenance of a case with papillonlefevre syndrome. More than 200 cases have been reported in the medical literature. Papillonlefevre syndrome pls is described as the association of palmarplantar. Papillonlefevre syndrome how is papillonlefevre syndrome. If the file has been modified from its original state, some details such as the timestamp may not fully reflect those of the original file. Papillon lefevre syndrome is an extremely rare genodermatosis inherited as an autosomal recessive trait. Papillonlefevre syndrome pfs is a rare autosomal recessive disorder. Pdf papillonlefevre syndrome pls is a rare autosomal recessive disorder, characterized by. Papillonlefevre syndrome pls, also known as palmoplantar keratoderma with periodontitis, is an autosomal recessive genetic disorder caused by a deficiency in cathepsin c. Epidemiology of dermatophytoses in 31 municipalities of the severe and atypical forms of dermatophytosis could lead to a diagnosis of aids.
In the general population, the disorder occurs in approximately one to four individuals per million. 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. Evidence that genetic factors do have strong influences on the risk of. Papillonlefevre syndrome article about papillonlefevre. Papillon lefevre syndrome synonyms, papillon lefevre syndrome pronunciation, papillon lefevre syndrome translation, english dictionary definition of papillon lefevre syndrome. A 34 yearold woman presented with complaints of diffuse hyperkeratosis with scaling over both palms.
Aug 19, 2019 keratosis palmoplantaris associated with periodontopathy or papillon lefevre syndrome is a very rare genetic disorder with autosomal recessive mode of inheritance and is characterized by hyperkeratosis of the palms and soles and early onset of a severe destructive periodontitis. Papillonlefevre syndrome pls is described as the association of palmar plantar hyperkeratosis with precocious periodontal disease which results in exfoliation. In most cases, the ppk is noted within the first 3 years of life. It is commonly diagnosed by dentists because of the severe periodontitis affecting. Papillonlefevre syndrome synonyms, papillonlefevre syndrome pronunciation, papillonlefevre syndrome translation, english dictionary definition of papillonlefevre syndrome. Mar 29, 2020 absceso hepatico piogeno versus amebiano.