Papillon-lefevre Syndrome.
نویسندگان
چکیده
Five cases of Papillon-Lefevre syndrome occurring in 2 families were seen to have variable clinical features. Two of these cases treated with etretinate showed a good response.
منابع مشابه
Papillon-Lefevre syndrome: A report of two cases in a family
Palmoplantar keratodermas are a heterogenous group of diseases, one of them is Papillon-Lefevre Syndrome (PLS). This rare disease is inherited as autosomal recessive and characterized by focal hyperkeratotic plaques on elbows and knees, severe periodontal disease resulting in premature loss of teeth. We report two brothers with PLS who did not have a history of this disease in their famil...
متن کاملAnalysis of Human Leukocyte Antigen class II Gene Polymorphism in Iranian Patients with Papillon-Lefevre Syndrome: a Family Study
Background: Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and early development of aggressive pe-riodontitis. Although cathepsin C (CTSC) gene mutations have been established in about 70-80% of PLS patients, it is assumed that the patients may have dysfunctioning of immune defense mechanisms. Objective: To assess the associat...
متن کاملHLA Class I Gene Polymorphism in Iranian Patients with Papillon-Lefevre Syndrome
Background: Papillon-Lefevre Syndrome (PLS) is a rare autosomal recessive disorder characterized by diffused palmoplantar keratoderma and severe periodontitis. Increased susceptibility to infections due to impairment of the immune system is considered to be involved in pathoetiology of this disease. Objective: According to the crucial function of HLA molecules in immune responses and associati...
متن کاملPAPILLON-LEFE\'VRE SYNDROME: NEUTROPHIL MOTILITY AND KILLING DEFECT IN A CHILD WITH RECURRENT SEVERE INFECTIONS
A case of palmoplantar hyperkeratosis with periodontosis and a history of recurrent severe pyoderma, pneumonia and multiple liver abscesses is described in a 12 year old girl. The patient demonstrated neutrophil dysfunction characterized by decreased random migration and chemotaxis and defective bactericidal activity. The exact immunopathological mechanism for susceptibility to infections i...
متن کاملPapillon-Lefevre syndrome: a case report.
Papillon-Lefevre syndrome is a rare autosomal recessive genetic disorder. The clinical manifestations include palmer planter hyperkeratosis with precocious progressive periodontal disease that results in premature exfoliation of primary and permanent dentitions. Patients are often edentulous at an early age. This is a case report of prosthodontic rehabilitation of a 15-year-old girl with Papill...
متن کاملPapillon-Lefevre syndrome: A report of two cases
Papillon-Lefevre syndrome is a rare (1-4 cases per million) autosomal recessive disorder showing predominantly oral and dermatological manifestations in the form of aggressive periodontitis affecting both primary and permanent dentition and palmoplantar hyperkeratosis. Genetic studies have shown that mutations in the major gene locus of chromosome 11q14 with loss of function of cathepsin C gene...
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ورودعنوان ژورنال:
- BMJ case reports
دوره 2013 شماره
صفحات -
تاریخ انتشار 1986