LEOPARD Syndrome (Multiple Lentigines; Lentiginosis Profusa

LEOPARD syndrome (LS, OMIM 151100) is a rare multiple-anomaly condition, which in most cases follows an autosomal dominant inheritance with variable penetrance and expression. The name is an acronym for lentiginosis, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary valve stenosis, abnormalities of the genitalia, retardation of growth, and sensorineural deafness coined by Gorlin and co-workers. About 200 cases of LS have been reported since the first description in the 1960s, but the exact prevalence is still unclear. The pathogenesis, clinical symptoms, diagnosis criteria, and recommendations are reviewed in this chapter.