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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.

SUBMITTER: Prasad AM

PROVIDER: S-EPMC4601465 | biostudies-literature | 2015 Sep-Oct

REPOSITORIES: biostudies-literature

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Jadassohn Lewandowsky Syndrome: A Rare Entity.

Prasad Anupama Manohar AM Inakanti Yugandar Y Kumar Shiva S

Indian journal of dermatology 20150901 5

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 ...[more]

PMID: 26538744

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