Naxos syndrome

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.

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]

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]

  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.