A Rare Case of Cardiocutaneous Syndrome in a Young Child
TLDR A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
A 19-month-old child presented with symptoms including focal keratoderma on palms and soles, dystrophic pachyonychia, scalp alopecia with sparse curly hair, periodontitis, early tooth decay, and notched incisor teeth. Genetic testing revealed a mutation in the DSP gene, which encodes desmosomes, linking the child's symptoms to a group of disorders associated with desmoplakin mutations. Although initially asymptomatic, by age 7, the child developed conduction abnormalities and was diagnosed with dilated cardiomyopathy, leading to a diagnosis of cardiocutaneous syndrome. This case highlights the diagnostic challenges of concurrent dermatological and oral conditions and underscores the importance of recognizing these signs as potential indicators of underlying cardiac disease.
