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Variant NAXOS-Carvajal Syndrome with Rare Additional Features of Systemic Bulla and Brittle Nails: A Case Report and
Takanori Sato1, Sho Okada1, Togo Iwahana1
1Department of Cardiovascular Medicine, Chiba University Graduate School of Medicine, Japan.
Insights
Skin findings like blisters and brittle nails can indicate heart conditions. This case shows how these symptoms help diagnose NAXOS-Carvajal syndrome, a serious cardiac disease.
Area of Science:
- Cardiology
- Dermatology
- Genetics
Background:
- Skin abnormalities can signal underlying cardiovascular diseases, termed cardiocutaneous syndrome.
- The specific roles of bulla (blisters) and nail changes in this syndrome are not well-defined.
Observation:
- A 49-year-old male patient presented with systemic bulla and heart failure.
- Previous diagnosis of epidermolysis bullosa lacked identified gene mutations.
- The patient exhibited palmoplantar keratosis, curly/fine hair, and cardiomyopathy.
Findings:
- The patient's presentation aligns with the characteristic triad of NAXOS-Carvajal syndrome.
- This case demonstrates that bulla and brittle nails can be associated with NAXOS-Carvajal syndrome.
Implications:
- Recognizing bulla and brittle nails can aid in identifying patients with NAXOS-Carvajal syndrome.
- These cutaneous manifestations may serve as crucial early indicators for serious cardiac conditions.
- Further research into cardiocutaneous syndromes is warranted to improve diagnostic pathways.
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.
