Naxos Disease

An autosomal recessive [MIM 601214] disorder characterised by palmoplantar keratoderma and other ectodermal features with cardiac disorders suggesting arrhythmogenic right ventricular dysplasia/cardiomyopathy, first reported in cohorts on the Greek island of Naxos
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Thus, as previously we reported in one of our patients with Naxos disease, the enhanced automaticity of ectopic foci and/or reentry circuit around the scar tissue was abolished by cytoskeletal disruption mechanism, induced by tubulin destabilization with low-dose colchicines.6 Additionally interesting, colchicine also upregulates other proteins involved in the autophagic clearance of misfolded proteins such as the master regulator Transcription Factor EB (TFEB).
An unusual form of Naxos Disease and its improvement by adjuvant low-dose colchicine therapy.
It is considered as a variant of Naxos disease with predominantly left ventricular involvement, early morbidity and clinical overlapping with dilated cardiomyopathy which has been described by Carvajal-Huerta et al.
Naxos disease is a rare genodermatosis with woolly hair, keratoderma of palms and soles and cardiomyopathy.
(1.) Magnetic Resonance Imaging Characteristics in Carvajal Syndrome (Variant of Naxos Disease) 2007 Maria Prompona, MD; Rainer Kozlik-Feldmann, MD; Josef Mueller-Hoecker, MD; Maximilian Reiser, MD; Armin Huber, MD.
Naxos disease is a rare autosomal recessive disease that consists of an associated triad of woolly hair, thickened palms and soles (keratoderma), and heart involvement.
A nine years old girl patient who has treated with anti-congestive therapy for dilated CMP and arrhythmias due to Naxos disease since two years admitted to hospital due to palpitation, syncope and edema.
Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy.
Two characteristic associations of woolly hair are Naxos disease and Carvajal disease.
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).
It may be partial or generalized, which often exhibits light pigmentation and increased hair shaft fragility.1 WH is a heterogeneous trait that can be manifested as part of a genetic syndrome, such as Naxos disease (MIM 601214) or Carvajal syndrome (MIM 605676) that are characterized by cardiomyopathy with palmoplantar keratoderma and WH.
Identification of a deletion in plakoglobin in arrhthmogenic right ventricular cardiomyopathy with palmoplanter keratoderma and woolly hair (Naxos disease).