Progressive cardiomyopathic lentiginosis: report of six cases and one autopsy.
Progressive cardiomyopathic lentiginosis (PCL) is a syndrome with progressive multisystem abnormalities. Lentigines, the cutaneous hallmark, are usually present from early age and are of utmost diagnostic value. Six children with PCL are reported. The most constant diagnostic features in this age group were multiple cutaneous lentigines, structural cardiac anomalies, and electrocardiographic alterations. Less constant findings were neurosensory deafness, short stature, and osseous, ocular, and genitourinary abnormalities.
D001145:Arrhythmias, Cardiac / Q000175:diagnosis*; D009202:Cardiomyopathies / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000175:diagnosis; D004562:Electrocardiography; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D007911:Lentigo / Q000175:diagnosis* / Q000473:pathology; D008297:Male; D010375:Pedigree; D013577:Syndrome