An uncommon association between skin lesions and LEOPARD Syndrome affected an old patient. Case report

Abstract

LEOPARD syndrome (LS) is a rare inherited autosomal dominant disease with high penetrance and markedly variable expression characterized by a spectrum of somatic abnormalities. In 1971, Gorlin proposed the well-known acronym LEOPARD (lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of the genitalia, retardation of growth, deafness). The nature and clinical importance of cardiovascular phenotypes associated with LS remain uncertain, because few patients with the disease have undergone comprehensive cardiac evaluations. To date, 200 cases have been described and one review has been published. We emphasize that this case is exceptional insofar as life expectancy was longer than other LEOPARD syndrome cases described in previous reports; these have had an early mortality due to cardiopathies. The aim of our study is to report a rare case of a patient affected with LEOPARD syndrome, survived until 67 years with cutaneous associations never described in literature.