Variant NAXOS-Carvajal Syndrome with Rare Additional Features of Systemic Bulla and Brittle Nails: A Case Report and Literature Review
| Autor: | Sho Okada, Yoshio Kobayashi, Togo Iwahana, Takanori Sato |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Cardiomyopathy
Dilated Male medicine.medical_specialty Cardiomyopathy Case Report 030204 cardiovascular system & hematology Gene mutation Cardiocutaneous syndrome 03 medical and health sciences Blister 0302 clinical medicine Keratoderma Palmoplantar Internal Medicine medicine Humans epidermolysis bullosa brittle nails Disease entity integumentary system business.industry systemic bulla Skin abnormality General Medicine Middle Aged medicine.disease Dermatology Carvajal syndrome Nails Heart failure 030211 gastroenterology & hepatology Epidermolysis bullosa Cardiomyopathies Hair Diseases NAXOS-Carvajal syndrome business cardiomyopathy Bulla (amulet) |
| Zdroj: | Internal Medicine |
| ISSN: | 1349-7235 0918-2918 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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