Subject(s)
Female , Humans , Adolescent , Anodontia/classification , Anodontia/etiology , Anodontia/genetics , Genetic Diseases, X-Linked/classification , Genetic Diseases, X-Linked/genetics , Genetic Diseases, X-Linked/pathology , Anodontia/diagnostic imaging , Comprehensive Dental Care/methods , Diagnosis, Differential , Dental Enamel Hypoplasia/etiology , Ectodermal Dysplasia/diagnosis , Papillon-Lefevre Disease/diagnosisABSTRACT
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. The clinical presentation, differential diagnosis, therapeutic and periodontal management of an 8-year old male child diagnosed with this syndrome is discussed.
La queratosis palmoplantar asociada con la periodontopatía - también conocida como síndrome de Papillon Léfèvre - es un trastorno genético muy poco común, con un modo de herencia autosómico recesivo. Se caracteriza por la hiperqueratosis de las palmas de las manos y las plantas de los pies y el inicio temprano de una periodontitis destructiva severa. Se analiza la presentación clínica, el diagnóstico diferencial, así como el tratamiento terapéutico y periodontal de un niño de 8 años de edad con este síndrome.
Subject(s)
Child , Humans , Male , Papillon-Lefevre Disease/diagnosis , Diagnosis, Differential , Papillon-Lefevre Disease/therapy , Radiography, PanoramicABSTRACT
Papillon- Lefèvre Syndrome (PLS) is a rare autosomal recessive trait, which is transmitted with an estimated frequency of one to four per million individuals. It is characterized by palmar plantar keratosis and severe early-onset periodontitis affecting both deciduous and permanent dentition. In this report, we present clinical, microbiological and leukocyte function test findings of a thirty-five year-old patient with symptoms typical of Papillon-Lefèvre Syndrome except for premature loss of deciduous and permanent dentition. The patient exhibited palmar plantar keratosis and an isolated, moderately deep periodontal pocket in the third quadrant. No anaerobic bacteria were isolated from the plaque culture. The neutrophil function test revealed defective chemotaxis and phagocytosis while intracellular killing and respiratory burst were normal.
Subject(s)
Adult , Chemotaxis, Leukocyte/physiology , Humans , Keratoderma, Palmoplantar/pathology , Male , Neutrophils/physiology , Papillon-Lefevre Disease/diagnosis , Penetrance , Periodontal Pocket/pathology , Periodontitis/pathology , Phagocytosis/physiology , Tooth Exfoliation/pathology , Tooth, Deciduous/pathologyABSTRACT
Papillon-Lefevre syndrome is a rare autosomal recessive disorder in which there is palmoplantar keratinization and premature loss of both deciduous and permanent teeth. The palmoplantar 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. An early diagnosis of the syndrome can help preserve the teeth by early institution of treatment, using a multidisciplinary approach. We present two cases of the syndrome having all of the characteristic features.
Subject(s)
Adolescent , Alveolar Bone Loss/diagnosis , Female , Gingivitis/diagnosis , Humans , Male , Papillon-Lefevre Disease/diagnosis , Periodontitis/diagnosis , Tooth Exfoliation/diagnosisABSTRACT
Papillon Lefevre syndrome (PLS) is a rare autosomal recessive disorder, which is characterized by palmar-plantar hyperkeratosis, periodontitis, and premature loss of dentition. We report a 16 years old girl with PLS. The patient presented at 08 years of age with complaints of corn on the feet and hands, and failure to thrive. On examination, her upper primarily canines were loose, she had severe periodontitis, eruption of permanent teeth, diffuse eritematous and hyperkeratotic palms and soles that suggested the syndrome. During the follow-up, the patient was diagnosed to have congenital hepatic fibrosis (CHF) when she was 16 years old, while she was being investigated for the etiology of her splenomegaly and pancytopenia. We report a patient with PLS associated with CHF, an association that has not been previously described. Abbreviations-HbsAg: Hepatitis B virus surface antigen, Anti Hbs: Antibody against Hepatitis B surface antigen, Anti Hbc IgM: Antibody against Hepatitis B cor antigen immunglobulin M, Anti dsDNA: Antibody against double stranded deoksiribonucleic acid, Anti HCV: Antibody against Hepatit C virus, Anti HIV: Antibody against human immun deficiency virus, AST: Aspartat amino transferase, ALT: Alanin amino transferase, Gamma-GT: Gamma glutamyl transferase, LDH: Lactate dehydrogenase & MRI: Magnetic resonance imaging.
Subject(s)
Acitretin/therapeutic use , Adolescent , Comorbidity , Female , Humans , Keratolytic Agents/therapeutic use , Liver Cirrhosis/diagnosis , Pancytopenia , Papillon-Lefevre Disease/diagnosis , Splenomegaly/diagnosisABSTRACT
Papillon- Lefèvre syndrome (PLS) is a rare autosomal recessive disorder of keratinization characterized by palmoplantar hyperkeratosis, periodontopathy and precocious loss of dentition. The exact pathomechanism of these clinical events mainly remains speculative. This paper describes two cases of PLS with classic clinical features and briefly review the relevant literature.
Subject(s)
Abnormalities, Multiple/diagnosis , Adolescent , Child , Female , Genetic Predisposition to Disease , Humans , India , Papillon-Lefevre Disease/diagnosis , Physical Examination , Prognosis , Risk Assessment , Severity of Illness IndexABSTRACT
Papillon-Lefevre syndrome is a rare autosomal recessive syndrome associated with palmoplantar keratoderma and early onset periodontal disease that results in loss of the teeth. Actinomyces Actinomycetemcomitans causing periodontal damage, and alterations in the polymorphonuclear leukocyte function have been postulated or probable pathogenetic mechanism. Early recognition of this entity as well as a multidisciplinary management may help in the prognosis of these cases
Subject(s)
Humans , Female , Adolescent , Papillon-Lefevre Disease/diagnosisABSTRACT
A brief review of aetiological aspects, clinical features and treatment of Papillon-Lefèvre syndrome, is mentioned. A case is reported of a girl having typical features of syndrome. In part II of this article we include oral rehabilitation of these patients using osseointegrated implants.
Subject(s)
Adult , Child , Dental Implantation, Endosseous , Female , Humans , Male , Mouth Rehabilitation/methods , Papillon-Lefevre Disease/diagnosisABSTRACT
Presentamos un caso de sindrome de Papillón-Lefevre (S.L.P) o hiperqueratosis de las palmas de las manos y plantas de los pies, con importante destrucción de soporte periodontal, en una enferma de 9 años de edad que ha sido detectada por nosotros hace más de un año, durante el cual hemos podido constatar lo rápido de la evolución de dicha enfermedad. Creemos de gran importancia hacer notar, que siendo una enfermedad sumamente rara, se le haya descubierto a nivel de práctica privada, no obstante que la paciente estuvo recibiendo tratamiento en instituciones de gran concentración desde los 2 años de edad; primero por su problema dermatológico y posteriormente para tratar de solucionar su problema bucal. Los autores jamás habíamos visto un caso real de este síndrome, solo por casos reportados en la literatura. Es por eso que juzgamos oportuno darlo a conocer para que los cirujanos dentistas logren también oportunamente diagnosticar futuros pacientes aun en su práctica privada
Subject(s)
Humans , Female , Tooth Exfoliation , Keratoderma, Palmoplantar/diagnosis , Papillon-Lefevre Disease/diagnosisABSTRACT
Se presenta un caso de Síndrome de Papillón-Lefevre en un paciente varón de 10 y 1/2 años de edad. La queratosis palmoplantar empezó desde el nacimiento. La pérdida de la dentadura decidual comenzó a los cinco (5) años de edad, y la caida de los dientes permanentes fue consecuencia de la periodontitis. Los hallazgos de inflamación de las encías, los múltiplas abscesos periodontales, la pérdida de los dientes, las alteraciones radiológicas, y la biopsia gingival, aunadas a la hiperqueratosis palmoplantar, confirmaron el diagnóstico de Síndrome de Papillón