Papillonlefevre syndrome jama dermatology jama network. Treatment for papillon lefevre syndrome dental treatment in manila. Papillonlefevre syndrome an autosomal recessive omim. The parents were unaffected, and parental consanguinity was present. This is an extremely rare disease with a prevalence of 14 cases per million. Papillonlefevre syndrome pls, also known as palmoplantar keratoderma with periodontitis. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for papillon lefevre syndrome. In the general population, the disorder occurs in approximately one to four individuals per million. Notwithstanding this treatment do not scope the disease itself. A 26 year old patient came to us with no teeth since he was 14 years old. Need to differentiate papillon lefevre syndrome pls from other diseases that show severe periodontitis and dermatological lesions, like haim munk syndrome2 and prepubertal periodontitis onset at a young age and classic incisormolar alveolar bone loss in conjunction with palmoplantar keratosis points towards the diagnosis of pls. Both the milk teeth and the permanent teeth are lost prematurely. 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 pls is an autosomal recessive disorder.
Palmoplantar keratosis started at the age of 1 1 2 years. Papillonlefevre syndrome definition of papillonlefevre. Papillonlefevre syndrome pls is a genetically inherited. This case report describes the clinical periodontal findings and treatment of a 10. Papillon lefevre syndrome nord national organization. Papillon lefevre syndrome a rare syndrome treated osteo3d. Papillonlefevre syndrome, disease, papillonlefevre, papillon lefevre disease, papillon lefevre. Mild keratoderma of the palms and psoriasiform patches on the arms were also noted. Papillonlefevre syndrome pls is a rare autosomal recessive. Hyperkeratosis palmoplantaris with transgression onto the elbows and the knees, as well as other areas, hypotrichosis, nail fragility, ectopic intracranial essentially dura mater calcifications, eyelid cysts. Papillon lefevre syndrome pls, also known as palmoplantar keratoderma with periodontitis, is an autosomal recessive genetic disorder caused by a deficiency in cathepsin c. Papillon lefevre syndrome pls is an autosomal recessive form of palmoplantar ectodermal dysplasia, characterized by palmoplantar hyperkeratosis and severe earlyonset periodontitis. Incredibles wannabe sidekick turned bad guy, from the incredibles 2004.
Some of the earlier suspected causes of papillon lefevre syndrome include vitamin a deficiency. Papillon lefevre syndrome is an extremely rare disorder that affects males and females in equal numbers and is found in all ethnic groups. 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. Pdf on jan 15, 20, marie a congiusta and others published. Papillon lefevre syndrome genetic and rare diseases. Pyogenic liver abscess is an increasingly recognized complication. Periodontosis, premature loss of primary and adult teeth, hypodontia. Pdf papillonlefevre syndrome pls is a rare autosomal recessive disorder. Papillon lefevre syndrome pls is a rare genetically inherited autosomal recessive disorder. Oral examination disclosed an edentulous maxilla and only eight teeth in the mandible. Papillon lefevre syndrome genetic and rare diseases information. 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.
Treatment for papillon lefevre syndrome dental treatment. Click on the link to view a sample search on this topic. To date, different cathepsin c mutations have been reported in pls patients, all of which are. Identification of cathepsin c mutations in ethnically. Papillonlefevre 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. Males and females are equally affected and there is no racial predominance. A group of symptoms that collectively indicate or characterize a disease, disorder, or other condition considered abnormal. Genetic studies have identified a mutation in the major gene locus of chromosome 11q14 with loss of function.
Without treatment, most of the secondary permanent teeth may also be lost by. Papillon lefevre syndrome is a certain genetic predisposition. Sixteen months of treatment with acitretin is useful for the treatment of palmoplantar keratoderma and periodontosis. Haimmunk syndrome nord national organization for rare.
Pdf on jan 15, 20, marie a congiusta and others published papillonlefevre syndrome find, read and cite all the research you need on researchgate. Haimmunk syndrome is a rare genetic disorder that affects males and females in equal numbers. Additionally, associated findings of calcification of the choroid plexus and tentorium have been reported in several cases. Syndrome pop culture when innocent heroworship goes unrequited, the consequences can be dire for both the admirer and the admired.
Papillonlefevre syndrome pls is a rare genetically inherited autosomal recessive disorder. Papillon lefevre syndrome nord national organization for rare. Pubmed is a searchable database of medical literature and lists journal articles that discuss papillon lefevre syndrome. Main features of pls are hyperkeratosis of palms and soles concomitant with premature loss of primary and permanent dentition due to progressive periodontitis. Papillon lefevre syndrome an overview sciencedirect topics. The papillonlefevre syndrome is characterized by palmarplantar hyperkeratosis and periodontosis occurring in childhood after the eruption of deciduous teeth. 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. Various etiopathogenic factors are associated with the syndrome, like immunologic alterations.
Treatment is based on oral retinoids which attenuate the palmoplantar. Papillonlefevre syndrome article about papillonlefevre. 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. Conclusion this report has shown successful 1year followup of implant osseointegration and alveolar bone preservation in a papillonlefevre syndrome patient wearing a functional implantretained overdenture. Papillonlefevre syndrome pls is an extremely rare genetic disorder that. The syndrome may be seen in families but generally the parents are asymptomatic carriers of the gene. Papillonlefevre syndrome was first described by two french physicians, papillon and lefevre in 1924. Orphanet is a european reference portal for information on rare diseases and orphan drugs. Papillonlefevre syndrome synonyms, papillonlefevre syndrome pronunciation, papillonlefevre syndrome translation, english dictionary definition of papillonlefevre syndrome. Papillonlefevre syndrome patient reveals speciesdependent. The disorder is inherited by an autosomal recessive trait leading to gene mutation. Papillonlefevre syndrome pls results from mutations that. Mutations in the ctsc gene also cause haimmunk syndrome hms. Dental implants in a young patient with papillonlefevre.
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. Papillonlefevre syndrome pls is a rare ectodermal dysplasia characterized by. This result provides a viable option for restoring edentulism in young individuals suf. A 34 yearold woman presented with complaints of diffuse hyperkeratosis with scaling over both palms.