A case report of Naxos disease from Afghanistan
##plugins.themes.academic_pro.article.main##
Abstract
Naxos disease is a rare genetic disorder in which the gene on chromosome 17 is encoded for plakoglobin which in term plays significant adhesive role in cardiac and dermal junctions on cellular levels resulting in fibro fatty deposits in skin tissues and the heart. Apparently, patients with Naxos disease present with skin related symptoms including woolly hair and keratoderma in palms and soles; however, by the passage of time, these patients develop cardiac manifestations most commonly arrhythmogenic right ventricular cardiomyopathy and left ventricular involvement in the late stages of the disease. Consequently, the aforementioned manifestations cause heart failure, arrhythmia and sudden death. Patients are diagnosed with the aforementioned physical findings and history of the relevant symptoms confirmed by laboratory findings of the genetic abnormality for plakoglobin and/or echocardiographic findings for arrhythmogenic right ventricular cardiomyopathy. Patients are treated symptomatically for keratoderma with certain emollients, keratolytic agents such as 6% salicylic acid and 70% propylene glycol, topical and systemic retinoids, anti-arrhythmic medicines, and implantable cardioverter defibrillator though there is no permanent efficacy in the skin but implantable cardioverter defibrillators reduce premature mortality. Patients with certain phenotypes should be deeply investigated for underlying cardiac manifestations being responsible for poor prognosis in such patients.
Keywords
Naxos, disease, Keratoderma, Cardiocutaneous, Woolly, hair, Case, Report##plugins.themes.academic_pro.article.details##
References
- Baykan, A., Olgar, Ş., Argun, M., Özyurt, A., Pamukçu, Ö., Üzüm, K., & Narin, N. (2015). Different clinical presentations of Naxos disease and Carvajal syndrome: Case series from a single tertiary center and review of the literature. Anatolian Journal of Cardiology, 15(5), 404. https://doi.org/10.5152/akd.2015.5990
- Coonar, A. S., Protonotarios, N., Tsatsopoulou, A., Needham, E. W., Houlston, R. S., Cliff, S., Otter, M. I., Murday, V. A., Mattu, R. K., & McKenna, W. J. (1998). Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21. Circulation, 97(20), 2049–2058. https://doi.org/10.1161/01.CIR.97.20.2049
- Gatzoulis, K., Protonotarios, N., Anastasakis, A., Tsatsopoulou, A., Vlasseros, J., Gialafos, J., & Toutouzas, P. (2000). Implantable defibrillator therapy in Naxos disease. Pacing and Clinical Electrophysiology, 23(7), 1176–1178. https://doi.org/10.1111/j.1540-8159.2000.tb00938.x
- Hertig, C. M., Butz, S., Koch, S., Eppenberger-Eberhardt, M., Kemler, R., & Eppenberger, H. M. (1996). N-cadherin in adult rat cardiomyocytes in culture II: Spatio-temporal appearance of proteins involved in cell-cell contact and communication. Formation of two distinct N-cadherin/catenin complexes. Journal of Cell Science, 109(1), 11–20. https://doi.org/10.1242/jcs.109.1.11
- Kilic, T. E., Babaoglu, K., Aygün, F., Vural, A. H., Ural, D., Agacdiken, A., Anik, Y. O., & Komsuoglu, B. (2007). Biventricular involvement in a Turkish boy with palmoplantar hyperkeratosis and curly hair, an unusual presentation of Naxos–Carvajal syndrome. International Journal of Cardiology, 115(3), e122–e125. https://doi.org/10.1016/j.ijcard.2006.08.097
- Kimyai-Asadi, A., Kotcher, L. B., & Jih, M. H. (2002). The molecular basis of hereditary palmoplantar keratodermas. Journal of the American Academy of Dermatology, 47(3), 327–346. https://doi.org/10.1067/mjd.2002.122736
- Li, G. L., Saguner, A. M., & Fontaine, G. H. (2018). Naxos disease: from the origin to today. Orphanet journal of rare diseases, 13, 1-11.
- Norgett, E. E., Hatsell, S. J., Carvajal-Huerta, L., Ruiz Cabezas, J. C., Common, J., Purkis, P. E., ... & Kelsell, D. P. (2000). Recessive mutation in desmoplakin disrupts desmoplakin–intermediate filament interactions and causes dilated cardiomyopathy, woolly hair, and keratoderma. Human Molecular Genetics, 9(18), 2761–2766. https://doi.org/10.1093/hmg/9.18.2761
- Protonotarios, N. I., Tsatsopoulou, A. A., & Gatzoulis, K. A. (2002). Arrhythmogenic right ventricular cardiomyopathy caused by a deletion in plakoglobin (Naxos disease). Cardiac Electrophysiology Review, 6(1), 72–80. https://doi.org/10.1023/A:1017943323475
- Protonotarios, N., Tsatsopoulou, A., Anastasakis, A., Sevdalis, E., McKoy, G., Stratos, K., Gatzoulis, K., Tentolouris, K., Spiliopoulou, C., Panagiotakos, D., & McKenna, W. (2001). Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. Journal of the American College of Cardiology, 38(5), 1477–1484. https://doi.org/10.1016/S0735-1097(01)01559-4
- Protonotarios, N., Tsatsopoulou, A., Patsourakos, P., Alexopoulos, D., Gezerlis, P., Simitsis, S., & Scampardonis, G. (1986). Cardiac abnormalities in familial palmoplantar keratosis. Heart, 56(4),321–326. https://doi.org/10.1136/hrt.56.4.321