Why the study?
Carvajal and erythrokeratodermia cardiomyopathy syndromes are rare, inherited cardiocutaneous disorders with potentially fatal consequences in young children that may manifest as sudden death without warning signs.
Characteristic hair, skin, teeth, and nail abnormalities in young children should prompt cardiac evaluation and genetic analysis for rare cardiocutaneous disorders like Carvajal and EKC syndromes.
May support novel therapy in EKC syndrome; leaves open confirmation in prospective trials.
Carvajal and erythrokeratodermia cardiomyopathy syndromes (EKC) are rare, inherited cardiocutaneous disorders with potentially fatal consequences in young children. Some patients display features of congestive heart failure and rapidly deteriorate; others exhibit no evident warning signs until sudden death reveals underlying heart disease. We present two patients to illustrate the characteristic hair, skin, teeth, and nail abnormalities, which-especially when distinct from that of other family members-should prompt cardiac evaluation and genetic analysis. In this article, we discuss established treatments as well as a promising, novel therapeutic that has led to nearly complete resolution of the cutaneous and cardiac pathology in EKC syndrome.
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Sun et al. (2020) studied this question.
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