• Internal medicine · Apr 2021

    Review Case Reports

    Variant NAXOS-Carvajal Syndrome with Rare Additional Features of Systemic Bulla and Brittle Nails: A Case Report and Literature Review.

    • Takanori Sato, Sho Okada, Togo Iwahana, and Yoshio Kobayashi.
    • Department of Cardiovascular Medicine, Chiba University Graduate School of Medicine, Japan.
    • Intern. Med. 2021 Apr 1; 60 (7): 1119-1126.

    AbstractSkin abnormalities are often indicative of cardiovascular diseases. Such a disease entity is called cardiocutaneous syndrome; however, the details regarding the involvement of bulla and nails remain largely unclear. A 49-year-old man with systemic bulla was admitted for heart failure. His bulla had previously been diagnosed as epidermolysis bullosa, but no known gene mutations for it had been identified. He had a triad of palmoplantar keratosis, curly and fine hair, and cardiomyopathy, which are characteristic of NAXOS-Carvajal syndrome. This case highlights the fact that bulla and brittle nails can accompany NAXOS-Carvajal syndrome, showing that these extra-cardiac findings can help identify otherwise overlooked serious cardiac conditions.

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