title: Papillon-lefevre syndrome with congenital hepatic fibrosis.
abstract: 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.
authors.affiliation: Dr Sami Ulus Children's Hospital, MD, Ankara, Turkey. gencdoc@yahoo.com
authors.forename: G
authors.initials: G
authors.lastname: Genc
authors.forename: H
authors.initials: H
authors.lastname: Dursun
authors.forename: A
authors.initials: A
authors.lastname: Sarac
authors.forename: B
authors.initials: B
authors.lastname: Dalgic
mesh_terms: D017255:Acitretin / Q000627:therapeutic use; D000293:Adolescent; D015897:Comorbidity; D005260:Female; D006801:Humans; D007641:Keratolytic Agents / Q000627:therapeutic use; D008103:Liver Cirrhosis / Q000175:diagnosis* / Q000503:physiopathology; D010198:Pancytopenia; D010214:Papillon-Lefevre Disease / Q000175:diagnosis* / Q000188:drug therapy / Q000503:physiopathology; D013163:Splenomegaly / Q000175:diagnosis* / Q000503:physiopathology
chemical_list: D007641:Keratolytic Agents; D017255:Acitretin