KRT1-related diffuse nonepidermolytic keratoderma

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Synonyms: KRT1-related diffuse NEPPK

A rare genetic isolated diffuse palmoplantar keratoderma characterized by diffuse mild to thick finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers hyperkeratosis of umbilicus and areolae diffuse dry skin hyperhidrosis hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis acanthosis hypergranulosis and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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