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European Journal of Dermatology

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Pachyonychia congenita type 1 with skeletal abnormalities Volume 19, numéro 3, May-June 2009

Auteurs
Department of Dermatology, Maastricht University Medical Center+, P. Debijelaan 25, 6202AZ Maastricht, the Netherlands

Auteur(s) : Jaap JAJ van der Velden, Maurice AM van Steensel Department of Dermatology, Maastricht University Medical Center+, P. Debijelaan 25, 6202AZ Maastricht, the Netherlands Pachyonychia congenita (PC) is characterized by hyperkeratosis of the nail bed with thickening and distortion or curvature of the nail plate [1]. There are two types of PC: Jadassohn-Lewandowsky syndrome (PC1) and Jackson-Lawler syndrome (PC2). The PC1 phenotype is associated with mutations in KRT6A or KRT16, [...]