Papillon lefevre syndrome periodontal disease palmoplantar hyperkeratosis quimiotaxis catepsin c. Papillon lefevre syndrome pls is described as the association of palmarplantar hyperkeratosis with precocious periodontal disease which results in exfoliation of primary and permanent dentitions. Papillon lefevre syndrome nord national organization for. Alejandro perez asenjo, juan velez soldevilla, miguel carasol campillo, francisco javier alandez chamorro localizacion. Pyogenic liver abscess and papillonlefevre syndrome. Jun 16, 2010 papillonlefevre syndrome pls is characterized by hyperkeratosis of hands and feet and by a generalized aggressive periodontitis in both the primary and the permanent dentition. Papillon lefevre syndrome pls was first described by two french physicians, papillon and lefevre, in france. Des lesions psoriasiformes des membres peuvent etre observees. A 34 yearold woman presented with complaints of diffuse hyperkeratosis with scaling over both palms. 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.
In the general population, the disorder occurs in approximately one to four individuals per million. More than 200 cases have been reported in the medical literature. Medicine, pediatrics, papillonlefevre syndrome, hyperkeratosis, periodontal disease, children, immunology. Papillonlefevre syndrome video abstract 76080 youtube. Haimmunk syndrome also known as palmoplantar keratoderma with periodontitis and arachnodactyly and acroosteolysis is a cutaneous condition caused, like papillon lefevre syndrome, by a mutation in the cathepsin c gene. Males and females are equally affected and there is no racial predominance. A clinical and genetic analysis of the papillonlefevre syndrome. The etiology of pls is multifactorial with genetic, immunological, and microbial factors playing a role in etiopathogenesis. It is characterized by erythematous palmoplantar hyperkeratosis and earlyonset aggressive periodontitis. The periodontal lesions begin shortly after the start of both the primary and the permanent dentitions.
This is an extremely rare disease with a prevalence of 14 cases per million. Jul 15, 2015 papillonlefevre syndrome pls is a rare autosomal recessive disorder, characterized by diffuse palmoplantar keratoderma and precocious aggressive periodontitis, leading to premature loss of. Papillon lefevre enfermedades raras y patologias poco comunes. Both the milk teeth and the permanent teeth are lost prematurely. Papillon lefevre enfermedades raras y patologias poco. The inheritance is autosomal recessive and the point of mutation is the gene for cathepsin c ctcs, a lysosomal.
Haimmunk syndrome nord national organization for rare. 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 pls is a rare genetically inherited autosomal recessive disorder. In most cases, the ppk is noted within the first 3 years of life. 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.
Expression of the papillon lefevre syndrome in 2 unrelated families. The syndrome is a rare autosomal recessive trait with an estimated prevalence of one to four cases per million persons. Palmoplantar hyperkeratosis, periodontitis, papillon lefevre syndrome acitretin. Recently identified genetic defect in pls has been. Papillon lefevre syndrome an overview sciencedirect topics. Epidemiology of dermatophytoses in 31 municipalities of the severe and atypical forms of dermatophytosis could lead to a diagnosis of aids. Papillonlefevre syndrome definition of papillonlefevre. Papillon lefevre syndrome is a rare genetic disorder characterized by the development of dry scaly patches of skin on the palms of the hands and the soles of the feet palmarplantar hyperkeratosis and severe inflammation and degeneration of the structures that surround and support the teeth periodontium, resulting in the premature loss of. Papillon lefevre syndrome pls is a rare autosomal recessive heterogeneous trait which is characterized by erythematous palmoplantar hyperkeratosis, earlyonset periodontitis, and associated calcification of dura mater. Papillon lefevre syndrome was first described by two french physicians, papillon and lefevre in 1924.
Papillonlefevre syndrome pls, also known as palmoplantar keratoderma with periodontitis, is an autosomal recessive genetic disorder caused by a deficiency in cathepsin c. It is commonly diagnosed by dentists because of the severe periodontitis affecting. Munford is a major, usaf dc, and presently a graduate student in oral surgery, university of texas health science center at houston. Papillonlefevre syndrome pls was first described by two french physicians, papillon and lefevre, in france. Papillon lefevre syndrome an autosomal recessive omim. It is characterized by diffuse hyperkeratosis involving the palms and soles of the feet.
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