PA05 A rare case of cardiocutaneous syndrome in a young child

Abstract A 19-month-old infant came to our attention showing clinical signs consistent with focal keratoderma limited the palms and soles, dystrophic pachyonychia of all his nails scalp alopecia characterized by sparse curly hair. His oral cavity examination revealed periodontitis, early tooth decay notching incisor teeth. The patient is second child a nonconsanguineous, otherwise healthy couple. No other family members were reported have similar skin alterations. Based on characteristic appearance cutaneous lesions, he was investigated for palmoplantar disorder subjected genetic testing. Results confirmed mutation within DSP, gene responsible encoding most abundant component desmosomes, major cell adhesion junction, particularly prominent in epidermal cardiac tissue. Mutations genes desmosomal components are known be associated broad spectrum phenotypical alterations hair structures. same anomaly accounts 40–50% cases arrhythmogenic cardiomyopathy (Pigors M, Schwieger-Briel A, Cosgarea R et al. Desmoplakin mutations keratoderma, woolly cardiomyopathy. Acta Derm Venereol 2015; 95:337–40). Despite being asymptomatic, young referred cardiology further investigations surveillance. At age 7 years, routine electrocardiography new conduction abnormalities. An echocardiogram dilated that, combined previously described alterations, led diagnosis cardiocutaneous syndrome. overview features desmoplakin medical literature illustrates complexity this group disorders their genotype–phenotype correlations, which cannot easily predicted. Our case paradigmatic example diagnostic difficulties often encountered when facing concomitant dermatological conditions patient, emphasizing importance recognizing oral, dental potential risk factor hidden diseases.