China
Africa
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Retinoids in Keratinization Disorders
Published in Ayse Serap Karadag, Berna Aksoy, Lawrence Charles Parish, Retinoids in Dermatology, 2019
Woolly hair, palmoplantar keratoderma, and cardiac involvement are the main features of this disease. Painful and linear hyperkeratotic lesions especially involve pressure points and interphalangial regions. Naxos syndrome may be associated with skin dryness, acanthosis nigricans, palmoplantar hyperhidrosis, and follicular hyperkeratosis. Cardiologic treatments and follow-up for right-side cardiac defects, systemic retinoid therapy including acitretin or isotretinoin for keratoderma, and topical keratolytic and moisturizer agents for skin manifestations are recommended (78,79).
Naxos disease – a narrative review
Published in Expert Review of Cardiovascular Therapy, 2020
Marianna Leopoulou, Gustav Mattsson, Jo Ann LeQuang, Joseph V Pergolizzi, Giustino Varrassi, Marita Wallhagen, Peter Magnusson
Carvajal syndrome was described by Carvajal-Huerta and may be considered a variant of Naxos syndrome [34]. It seems to be most prevalent in Ecuador and India. Compared to Naxos disease, it manifests at a younger age, even during childhood, and the involvement of the left ventricle, including dilatation, is common [9,12]. Notably, the affected skin in the Carvajal-Huerta series of patients presents with epidermolytic keratoderma [34]. The underlying genetic cause refers to a mutation that truncates the intermediate filament-binding site of desmoplakin. It is associated with early morbidity [6]. In addition, homozygous mutations in genes that encode the proteins plakoglobin and desmocollin-2 have been associated with Carvajal syndrome [13]. Interestingly, histological findings in a case Carvajal syndrome lacked the fatty component in myocardial replacement process seen in Naxos disease [28].