ReviewInternal medicine (Tokyo, Japan)2021
Variant NAXOS-Carvajal Syndrome with Rare Additional Features of Systemic Bulla and Brittle Nails: A Case Report and Literature Review.
Review in Internal medicine (Tokyo, Japan), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed, 3 citations in OpenAlex.
- Carvajal Syndrome- A Variant of Naxos Disease: A Case Report.JNMA; journal of the Nepal Medical Association · 2022Article
- Novel Compound Heterozygous Variants ofCase reports in dermatologyArticle
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Skin 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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