Congenital Palmoplantar Keratoderma and Woolly Hair in a Child: A Quiz

Authors

  • Lucie Harpain Department of Dermatology, Medical University of Vienna, Vienna, Austria https://orcid.org/0000-0001-9361-7269
  • Christiane Pees Department of Pediatrics, Medical University of Vienna, Vienna, Austria.
  • Julian Heno Department of Pediatrics, Medical University of Vienna, Vienna, Austria.
  • Sonja Radakovic Department of Dermatology, Medical University of Vienna, Vienna, Austria.

DOI:

https://doi.org/10.2340/actadv.v106.adv-2026-0905

Keywords:

pediatric dermatology, Carvajal syndrome, desmoplakin, palmoplantar keratoderma, woolly hair, cardiocutaneous syndrome, inherited skin disorder

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References

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Brandão M, Bariani R, Rigato I, Bauce B. Desmoplakin Cardiomyopathy: Comprehensive Review of an Increasingly Recognized Entity. J Clin Med 2023; 12: 2660. DOI: https://doi.org/10.3390/jcm12072660

Carvajal-Huerta L. Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol 1998; 39: 418–421. DOI: https://doi.org/10.1016/S0190-9622(98)70317-2

Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 2000; 9: 2761–2766. DOI: https://doi.org/10.1093/hmg/9.18.2761

Protonotarios N, Tsatsopoulou A. Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Pathol 2004; 13: 185–194. DOI: https://doi.org/10.1016/j.carpath.2004.03.609

Protonotarios I, Asimaki A, Xylouri Z, Protonotarios A, Tsatsopoulou A. Clinical and Molecular Aspects of Naxos Disease. Heart Fail Clin 2022; 18: 89–99. DOI: https://doi.org/10.1016/j.hfc.2021.07.010

Baykan A, Olgar Ş, Argun M, Özyurt A, Pamukçu Ö, Üzüm K, et al. Different clinical presentations of Naxos disease and Carvajal syndrome: Case series from a single tertiary center and review of the literature. Anatol J Cardiol 2015; 15: 404–408. DOI: https://doi.org/10.5152/akd.2014.5413

McGrath JA, Mellerio JE. Ectodermal dysplasia-skin fragility syndrome. Dermatol Clin 2010; 28: 125–129. DOI: https://doi.org/10.1016/j.det.2009.10.014

Wang W, Murray B, Tichnell C, Gilotra NA, Zimmerman SL, Gasperetti A, et al. Clinical characteristics and risk stratification of desmoplakin cardiomyopathy. Europace 2022; 24: 268–277. DOI: https://doi.org/10.1093/europace/euab183

Protonotarios A, Asimaki A, Basso C, Xylouri Z, Monda E, Protonotarios I, et al. Naxos Disease and Related Cardio-Cutaneous Syndromes. JACC Adv 2025; 4: 101547. DOI: https://doi.org/10.1016/j.jacadv.2024.101547

Published

2026-09-07

How to Cite

Harpain, L., Pees, C., Heno, J., & Radakovic, S. (2026). Congenital Palmoplantar Keratoderma and Woolly Hair in a Child: A Quiz. Acta Dermato-Venereologica, 106, adv–2026. https://doi.org/10.2340/actadv.v106.adv-2026-0905