Naxos disease

A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.



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Narrow down the case reports



Total: 22 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(34.6%)
24187773
An unusual form of Naxos disease and its improvement by adjuvant low-dose colchicine therapy.
Gultekin N, Kucukates E.
Acta Cardiol. 2013;68(4):433-7.
Cyanosis Palmoplantar hyperkeratosis Clubbing
Anti-Arrhythmia Agents Arrhythmogenic Right Ventricular Dysplasia Cardiac Arrhythmia Dose-Response Relationship, Drug Females Hair Diseases Heart Function Tests Homo sapiens Keratoderma, Palmoplantar Middle Aged Tubulin Modulators
2
(29.4%)
23448613
Anaesthesia in Naxos disease: first case report.
Yildiz H, Silay E, Coskuner I, Ozyurt K, Olgar S, Senoglu N, Oksuz H.
Bosn J Basic Med Sci. 2013;13(1):63-5.
Palmoplantar keratoderma Sparse eyebrow
Arrhythmogenic Right Ventricular Dysplasia Child Females Hair Diseases Heart Diseases Homo sapiens Keratoderma, Palmoplantar Thrombosis
3
(28.9%)
23942402
Naxos disease and Carvajal variant.
Salam AA, Remadevi KS, Kurup RP.
Indian Pediatr. 2013;50(6):596-8.
Palmoplantar hyperkeratosis
Arrhythmogenic Right Ventricular Dysplasia Cardiomyopathies Cardiomyopathy, Dilated Child Females Hair Diseases Homo sapiens Keratoderma, Palmoplantar
3
(28.9%)
17125858
Biventricular involvement in a Turkish boy with palmoplantar hyperkeratosis and curly hair, an unusual presentation of Naxos-Carvajal syndrome.
Kilic T, Babaoglu K, Aygun F, Vural A, Ural D, Agacdiken A, Anik Y, Komsuoglu B.
Int J Cardiol. 2007;115(3):e122-5.
Palmoplantar hyperkeratosis
Arrhythmogenic Right Ventricular Dysplasia Echocardiography, Doppler Electrocardiography, Ambulatory Hair Diseases Homo sapiens Keratoderma, Palmoplantar Magnetic Resonance Imaging Male Syndrome
3
(28.9%)
15690239
Woolly hair and palmoplantar hyperkeratosis may present with hypertrophic cardiomyopathy.
Peirone A, Bruno E, Rossi N, Alday LE.
Pediatr Cardiol. 2005;26(4):470-2.
Palmoplantar hyperkeratosis
Child Differential Diagnosis Hair Hair Diseases Homo sapiens Hypertrophic Cardiomyopathy Keratoderma, Palmoplantar Male
6
(4.0%)
28329610
Generalized woolly hair with diventricular arrythmogenic cardiomyopathy: a rare variant of Naxos disease.
Dutta A, Ghosh SK, Majumder B, Majumdar R.
Dermatol Online J. 2016;22(9):.
Palmoplantar keratoderma
Arrhythmogenic Right Ventricular Dysplasia Child, Preschool Echocardiography Electrocardiography Females Hair Diseases Homo sapiens Keratoderma, Palmoplantar Ventricular Dysfunction, Left
6
(4.0%)
27747171
Cardiocutaneous syndrome (Naxos disease) in a Bangladeshi boy.
Islam AM, Rahman MT, Chowdhury AH.
Cardiovasc Diagn Ther. 2016;6(5):462-465.
Palmoplantar keratoderma
6
(4.0%)
25430408
(5779178)
Different clinical presentations of Naxos disease and Carvajal syndrome: Case series from a single tertiary center and review of the literature.
Baykan A, Olgar , Argun M, Ozyurt A, Pamukcu O, Uzum K, Narin N.
Anatol J Cardiol. 2015;15(5):404-8.
Palmoplantar keratoderma
Cardiomyopathies Child Child, Preschool Differential Diagnosis Females Homo sapiens Infant Keratoderma, Palmoplantar Male Retrospective Studies Syndrome
6
(4.0%)
25044388
HeartWare LVAD implantation in a patient with a rare ARVD: Carvajal syndrome.
Bottio T, Bejko J, Tarzia V, Gerosa G.
Int J Artif Organs. 2014;37(7):563-6.
Palmoplantar keratoderma
Cardiomyopathies Cardiomyopathy, Dilated Hair Diseases Heart-Assist Devices Homo sapiens Keratoderma, Palmoplantar Male Ventricular Dysfunction, Left
6
(4.0%)
23559728
(3610453)
Living after sudden death: A case report of Naxos disease.
Noain JA, Golet AC, Calzada JN, Mellado AM, Duarte JM.
Indian J Crit Care Med. 2012;16(4):207-9.
Palmoplantar keratoderma
        

Phenotype(s) retrieved from Orphanet

    Total: 14

HPO ID Term Frequency
HP:0000982 Palmoplantar keratoderma Very frequent (99-80%)
HP:0001638 Cardiomyopathy Very frequent (99-80%)
HP:0002224 Woolly hair Very frequent (99-80%)
HP:0002321 Vertigo Very frequent (99-80%)
HP:0005141 obsolete Episodes of ventricular tachycardia Very frequent (99-80%)
HP:0010719 Abnormality of hair texture Very frequent (99-80%)
HP:0011675 Arrhythmia Very frequent (99-80%)
HP:0000204 Cleft upper lip Frequent (79-30%)
HP:0000975 Hyperhidrosis Frequent (79-30%)
HP:0001635 Congestive heart failure Frequent (79-30%)
HP:0002209 Sparse scalp hair Frequent (79-30%)
HP:0002212 Curly hair Frequent (79-30%)
HP:0000956 Acanthosis nigricans Occasional (29-5%)
HP:0001645 Sudden cardiac death Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 10

HPO ID Term # of case reports
HP:0000982 Palmoplantar keratoderma 10
HP:0001638 Cardiomyopathy 3
HP:0004756 Ventricular tachycardia 2
HP:0000961 Cyanosis 1
HP:0001217 Clubbing 1
HP:0001635 Congestive heart failure 1
HP:0001645 Sudden cardiac death 1
HP:0002212 Curly hair 1
HP:0004308 Ventricular arrhythmia 1
HP:0011663 Right ventricular cardiomyopathy 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
JUP junction plakoglobin 3728