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Jadassohn Lewandowsky Syndrome: A Rare Entity.
Indian J Dermatol
November 2015
Department of DVL, P.E.S. Institute of Medical Sciences and Research, Kuppam, Andra Pradesh, India.
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.
View Article and Find Full Text PDFPachyonychia congenita type 2 (Jackson-Lawler syndrome) or PC-17: case report.
Acta Dermatovenerol Croat
April 2014
Department of Dermatology and Venereology Hospital Infante D. Pedro, Avenida Artur Ravara, 3814-501 Aveiro, Portugal.
Pachyonychia congenita (PC) is a rare genodermatosis caused by mutations in any of the four genes KRT6A, KRT6B, KRT16, or KRT17, which can lead to dystrophic, thickened nails and focal palmoplantar keratoderma, among other manifestations. Although 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, a classification system based on the mutant gene (PC-6a, PC-6b, PC-16 and PC-17) has been recently proposed. We report a 2-year-old female patient with a history of thickened and discolored nails, small cystic papulonodules on the central face, dry, unruly and curly hair, slight palmoplantar hyperkeratosis, and natal teeth.
View Article and Find Full Text PDFJadassohn-Lewandowski syndrome (pachyonychia congenita).
Semin Dermatol
June 1995
Department of Dermatology, Mayo Clinic, Rochester, MN 55905, USA.
Pachyonychia congenita is an uncommon autosomal dominant disorder with variable expression. Symmetrical nail hypertrophy, present in nearly all cases, is accompanied by dyskeratosis and dysplasia of other ectodermal tissues. This article reviews the genetics, clinical manifestations, histopathology, and treatment of pachyonychia congenita.
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