LEOPARD-SYNDROME (CARDIOCUTANEOUS LENTIGINOSIS SYNDROME)

We describe a remarkable and important autosomal dominant syndrome inv olving the skin and heart, characterized cutaneously by thousands of h yperpigmented macules beginning in infancy and increasing in number, I t is known by a number of names. These include the LEOPARD syndrome, m ultiple lentigines syndrome, generalized lentiginosis, centrofacial le ntiginosis, lentiginosis profusa syndrome, lentiginosis-deafness-cardi opathy syndrome, cardiocutaneous syndrome, and progressive cardiomyopa thic lentiginosis.(1-14) Lentiginosis is a hallmark of this familial s yndrome, which is considered a neuroectodermal defect, although it may not always be present.(15) Selmanowitz and associates(6) emphasized t he less than ideal connotation of the name LEOPARD, preferring the les s dramatic and more descriptive term ''lentiginosis profusa syndrome.' ' The acronym LEOPARD was introduced in 1969 by Gorlin et al(13) to re call the various features of this syndrome: L, lentigines (multiple); E, electrocardiographic conduction abnormalities; O, ocular hypertelor ism; P, pulmonary stenosis; A, abnormalities of genitalia; R, retardat ion of growth; and D, deafness (sensorineural). Not all of these findi ngs may be present in any given patient.(1,16) The syndrome used to be regarded as relatively rare, but our observations(2) and recent repor ts on oligosymptomatic cases(17) suggest that its true prevalence migh t be underestimated.