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Papillon-Lefevre syndrome: case report and review of the literature Janjua SA; Khachemoune ADermatol Online J 2004[Jul]; 10 (1): 13A 15-year-old boy presented with symmetric, well-demarcated, yellowish, keratotic plaques over the skin of his palms and soles extending onto the dorsal surfaces. Well-circumscribed, psoriasiform, erythematous, scaly plaques were also present on the elbows and knees bilaterally along with dystrophy an transverse grooving of the nails. He also had swollen and friable gums since the age of 3 with subsequent loss of most of his permanent dentition. These findings are consistent with Papillon-Lefevre syndrome. The clinical presentation, differential diagnosis, complications and management of this syndrome are discussed.|Adolescent[MESH]|Case Management[MESH]|Cathepsin C/genetics[MESH]|Consanguinity[MESH]|Genes, Recessive[MESH]|Humans[MESH]|Male[MESH]|Papillon-Lefevre Disease/*diagnosis/genetics[MESH] |
