Concomitant PLACK Syndrome, MYBPC3-Related Cardiomyopathy, and Nutritional Deficiency.

PLACK syndrome is a rare genodermatosis that features peeling skin, leukonychia, acral punctal keratoses, cheilitis, and knuckle pads. We report a case of a 6-year-old female with PLACK syndrome, attributed to a homozygous variant in CAST, and concurrent dilated cardiomyopathy, explained by a heterozygous variant in MYBPC3. She also had severe protein calorie malnutrition. Although the patient's cardiomyopathy is attributable to her MYBPC3 variant, this case adds to the growing list of reports describing PLACK syndrome with coinciding cardiomyopathy and highlights a unique presentation featuring both CAST and MYBPC3 variants.

Abstract from PubMed