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Naxos syndrome

April 14, 2024

Naxos disease[1] (also known as "diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy"[1] or "diffuse palmoplantar keratoderma with woolly hair and arrhythmogenic right ventricular cardiomyopathy", first described on the island of Naxos by Dr. Nikos Protonotarios[1]) is a cutaneous condition characterized by a palmoplantar keratoderma.[1] The prevalence of the syndrome is up to 1 in every 1000 people in the Greek islands.[2]

Naxos disease
Other namesDiffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy
Cutaneous phenotype of Naxos disease: woolly hair (A), palmar (B) and plantar (C) keratoses.

It has been associated with mutations in the genes encoding the proteins desmoplakin, plakoglobin, desmocollin-2, and SRC-interacting protein (SIP).[3][4] Naxos disease has the same cutaneous phenotype as the Carvajal syndrome.[2]

Symptoms edit

Between 80 and 99% of those with Naxos disease will display some of the following symptoms:

  • Disease of the heart muscle
  • Thickening of palms and soles
  • Sudden increased heart rate
  • Dizzy spells[5]
  • Kinked hair[6]

See also edit

References edit

  1. ^ a b c d Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  2. ^ a b Protonotarios, Nikos; Tsatsopoulou, Adalena (2006). "Naxos disease: Cardiocutaneous syndrome due to cell adhesion defect". Orphanet Journal of Rare Diseases. 1 (1): 4. doi:10.1186/1750-1172-1-4. PMC 1435994. PMID 16722579.
  3. ^ McKoy G, Protonotarios N, Crosby A, et al. (June 2000). "Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)". Lancet. 355 (9221): 2119–24. doi:10.1016/S0140-6736(00)02379-5. PMID 10902626. S2CID 39821701.
  4. ^ "Keratoderma with woolly hair". Genetics Home Reference. 17 April 2018. Retrieved 17 April 2018.
  5. ^ "Naxos disease - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 9 March 2023.
  6. ^ "Naxos disease | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 4 April 2021.

External links edit

April 14, 2024
naxos, syndrome, naxos, disease, also, known, diffuse, epidermolytic, palmoplantar, keratoderma, with, woolly, hair, cardiomyopathy, diffuse, palmoplantar, keratoderma, with, woolly, hair, arrhythmogenic, right, ventricular, cardiomyopathy, first, described, i. Naxos disease 1 also known as diffuse non epidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy 1 or diffuse palmoplantar keratoderma with woolly hair and arrhythmogenic right ventricular cardiomyopathy first described on the island of Naxos by Dr Nikos Protonotarios 1 is a cutaneous condition characterized by a palmoplantar keratoderma 1 The prevalence of the syndrome is up to 1 in every 1000 people in the Greek islands 2 Naxos diseaseOther namesDiffuse non epidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathyCutaneous phenotype of Naxos disease woolly hair A palmar B and plantar C keratoses It has been associated with mutations in the genes encoding the proteins desmoplakin plakoglobin desmocollin 2 and SRC interacting protein SIP 3 4 Naxos disease has the same cutaneous phenotype as the Carvajal syndrome 2 Symptoms editBetween 80 and 99 of those with Naxos disease will display some of the following symptoms Disease of the heart muscle Thickening of palms and soles Sudden increased heart rate Dizzy spells 5 Kinked hair 6 See also editOlmsted syndrome List of cutaneous conditions List of conditions caused by problems with junctional proteinsReferences edit a b c d Rapini Ronald P Bolognia Jean L Jorizzo Joseph L 2007 Dermatology 2 Volume Set St Louis Mosby ISBN 978 1 4160 2999 1 a b Protonotarios Nikos Tsatsopoulou Adalena 2006 Naxos disease Cardiocutaneous syndrome due to cell adhesion defect Orphanet Journal of Rare Diseases 1 1 4 doi 10 1186 1750 1172 1 4 PMC 1435994 PMID 16722579 McKoy G Protonotarios N Crosby A et al June 2000 Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair Naxos disease Lancet 355 9221 2119 24 doi 10 1016 S0140 6736 00 02379 5 PMID 10902626 S2CID 39821701 Keratoderma with woolly hair Genetics Home Reference 17 April 2018 Retrieved 17 April 2018 Naxos disease About the Disease Genetic and Rare Diseases Information Center rarediseases info nih gov Retrieved 9 March 2023 Naxos disease Genetic and Rare Diseases Information Center GARD an NCATS Program rarediseases info nih gov Retrieved 4 April 2021 External links edit Retrieved from https en wikipedia org w index php title Naxos syndrome amp oldid 1188170891, wikipedia, wiki, book, books, library,

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