Papillion Lefevre Syndrome-A Case Series of Siblings
نویسندگان
چکیده
Papillon Lefèvre syndrome is a rare disease characterized by skin lesions caused by palmar-plantar hyperkeratosis, and severe periodontal destruction involving both the primary and permanent dentitions. It is transmitted as an autosomal recessive condition and consanguinity of parents is evident in about one third of cases. The palmar plantar keratoderma typically has its onset between the ages of 1 and 4 years and severe periodontitis starts at the age of 3 or 4 years. Two cases of Papillon-Lefevre syndrome in the same family (siblings) are presented. A 15 years old girl and 13 years old boy have all the characteristic features of syndrome.
منابع مشابه
Analysis 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...
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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-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 کاملPapillion-Lefèvre Syndrome: Periodontists' Perspective
Papillion-Lefèvre Syndrome is a very rare disorder of autosomal recessive inheritance distinguished by palmar plantar hyperkeratosis and early onset of periodontitis affecting the dentition. Genetic studies have identified a mutation in the major gene locus of chromosome 11q14 with loss of function. Cathepsin C gene is to be responsible for Papillion-Lefèvre Syndrome. The present case report de...
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papillon-Lefèvre Syndrome (PLS) Is A Very Rare Autosomal Recessive Disorder Characterized By Palmoplantar Hyperkeratosis And Severe Early Onset Of Destructive Periodontitis Leading To Premature Loss Of Both Primary And Permanent Dentitions. Here We Are Presenting Case Report Of Siblings Who Presented With Palmoplantar Hyperkeratosis And Aggressive Periodontitis.
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