Papillon-Lefevre syndrome.
Two cases of Papillon-Lefevre Syndrome (PLS) in a family are reported. Association of recurrent infections, arachnodactyly, intracranial calcification and phalangeal abnormality have been observed. Because there is no history of consanguinity, and autosomal recessive pattern of inheritance is suggested.
D002648:Child; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D010214:Papillon-Lefevre Disease / Q000175:diagnosis / Q000235:genetics*; D012867:Skin / Q000473:pathology