Acral keratoderma and sudden death

Abstract

Carvajal syndrome (MIM605676) is a cardiocutaneous disease with non-epidermolytic palmoplantar keratosis (PPK), hair anomalies (woolly hair or hypotrichosis) and dilated cardiomyopathy (DCM). Autosomal recessive inherited mutations in the desmoplakin (DSP) gene are causative for this disorder. Cardiac involvement may lead to heart failure and sudden cardiac death. Since this may require pacemaker and heart transplantation, early diagnosis and cardiologic screening is of great importance. We present a diagnostic case with typical but also hidden symptoms of Carvajal syndrome and its clinical follow up. A skin biopsy showed hyperkeratosis, acanthosis and “acantholysis of the desmosomal-type” as defined by hypereosinophilic epidermal keratinocytes, widening of the intercellular spaces and partial loss of the intercellular bridges in the suprabasal layers. Vesiculation, blistering, crusting and stronger inflammation were absent. We would like to point out the importance of a diagnostic skin biopsy and discuss the histologic differential diagnoses of acantholysis of the desmosomal-type.