Heterozygous Arrhythmogenic Cardiomyopathy-Desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion

    October 2021 in “ Journal of Clinical Medicine ”
    Eva Cabrera‐Borrego, Trinidad Montero‐Vílchez, Francisco Bermúdez-Jiménez, Jesús Tercedor‐Sánchez, Luis Tercedor‐Sánchez, Manuel Sánchez‐Díaz, Rosa Macías‐Ruiz, María Molina-Jiménez, Francisco Javier Cañizares Garcia, Eduardo Fernández-Segura, Angel Fernández‐Flores, Salvador Arias‐Santiago, Juan Jiménez‐Jáimez
    TLDR Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
    The study examined 12 heterozygous carriers of truncation-type desmoplakin (DSP) mutations linked to arrhythmogenic cardiomyopathy (AC) and identified subclinical cutaneous changes despite the absence of visible skin symptoms. Participants exhibited lower skin temperature, increased transepidermal water loss, and microscopic skin alterations, such as widened intercellular spaces and acantholysis of keratinocytes, with reduced DSP expression. Hair shaft abnormalities, like pseudomonilethrix, were also observed. These findings suggested that skin and hair assessments could potentially serve as markers for identifying AC in DSP mutation carriers, even in the absence of cardiac symptoms. The study emphasized the need for larger cohorts to validate these observations.
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