title: Jadassohn Lewandowsky Syndrome: A Rare Entity.
abstract: Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis characterized by hyperkeratosis affecting the nails and palmoplantar areas, oral leucokeratosis, and cystic lesions. It is classically subdivided into two major variants, PC-1 (Jadassohn-Lewandowski syndrome) and PC-2 (Jackson-Lawler syndrome), according to the localization of the mutations in the KRT6A/KRT16 or KRT6B/KRT17 genes, respectively. We report a 9-year-old male patient with a history of thickened, discolored nails, raised spiny skin lesions all over the body since birth with focal plantar keratoderma and absence of natal teeth.
authors.affiliation: Department of DVL, P.E.S. Institute of Medical Sciences and Research, Kuppam, Andra Pradesh, India.
authors.forename: Anupama Manohar
authors.initials: AM
authors.lastname: Prasad
authors.affiliation: Department of DVL, P.E.S. Institute of Medical Sciences and Research, Kuppam, Andra Pradesh, India.
authors.forename: Yugandar
authors.initials: Y
authors.lastname: Inakanti
authors.affiliation: Department of DVL, P.E.S. Institute of Medical Sciences and Research, Kuppam, Andra Pradesh, India.
authors.forename: Shiva
authors.initials: S
authors.lastname: Kumar
keywords: Jadassohn–Lewandowski syndrome; keratins; nails; pachyonychia congenita; palmoplantar keratoderma