Tuberous sclerosis complex: bourneville's disease

Tuberous sclerosis complex is an autosomal dominant neurocutaneous syndrome due to mutations in two genes, tuberin and hamartin, involved in tissue growth. It is characterized by hamartomas in multiple organs including skin. Cutaneous lesions e.g. angiofibromas, ash-leaf macules, shagreen patches, ungual fibromas are quite characteristic and may herald other systemic features. The present article reviews the clinical profile, laboratory work-up, diagnosis and management of this multisystem disease

Papillon-lefevre syndrome. all about palms, soles and gums: a brief review

Papillon-Lefevre syndrome [PLS] is an autosomal recessive disorder of keratinization characterized by palmoplantar keratoderma and periodontitis with subsequent loss of teeth. The exact etiology of the diseases remains to be unraveled. Nonetheless cathepsin C gene mutations may be involved. The present review focuses on the recent advances about role of cathepsin C gene in the causation of PLS and other disorders