BRIEF REPORTS zyxwv Pediatric Dermatology Vol. 15 No. 2 125-128, 1998 zyxwvut An Intriguing Case of LEOPARD Syndrome Carmelo Schepis, M.D.,* Donatella Greco, M.D.,? Maddalena Siragusa, M.D.,* Dario Batolo, M.D.,J and Corrado Romano, M.D.* zyx “Unit of Dermatology and ?Department zyxwvuts of Pediatrics, Oasi Institute (IRCCS)for Research zyx in Mental Retardation and Brain Aging, Troina, Italy, and $Department of Human Pathology, University of Messina, Messina, Italy zy Abstract: We report a 9-year-old boy affected by LEOPARD syndrome, who also had ichthyosis,axillary freckling, two cafe au lait spots, and one neurofibroma. The diagnosis of LEOPARD syndrome has been made on clinical grounds, whereas the ichthyosis and neurofibroma have been histologically confirmed. The analogies between LEOPARD syndrome and neurofibromatosis have been discussed. Finally, we maintain this case is an example of the multiple lentigines syndrome/LEOPARD syn- drome spectrum. Gorlin et al. (1) introduced the acronym LEOPARD in order to delineate the main clinical features of this syndrome which include multiple lentigines, electrocar- diographic conduction abnormalities, ocular hypertelor- ism, pulmonic stenosis, abnormal genitalia, retardation of growth and sensorineural deafness. ‘‘Lentiginosispro- fusa syndrome” was the diagnostic term preferred by Selmanowitz and Orentreich (2). Voron et al. (3) listed the anomalies found in their patients affected by this syndrome and the minimal criteria needed to establish the diagnosis: (1) lentigines, (2) other cutaneous abnor- malities, (3) cardiac abnormalities, (4) genitourinary ab- normalities, (5) endocrine findings, (6) neurologic de- fects, (7) cephalofacial dysmorphisms, (8) short stature, (9) skeletal anomalies, and (10) family history consistent with an autosomal dominant mode of inheritance. The diagnostic criteria were multiple lentigines and features in at least two other categories, or if lentigines are absent, features in at least three other categories and an immediate relative with multiple lentigines syndrome as defined in Gorlin et al. (1). Arnsmeier and Paller (4) reported two families with 26 individuals affected by multiple lentigines syndrome, reviewed the literature, and introduced the possibility of a spectrum from mul- tiple lentigines syndrome (e.g., without noncutaneous ab- normalities) to LEOPARD syndrome (e.g., with noncu- taneous abnormalities) In 1979 the first Italian patient with LEOPARD syn- drome was reported by Peserico and Veller-Fornasa (5). Here we present a 9-year-old boy with LEOPARD syn- drome and other associated genetic skin features. CASE REPORT A 9-year-old boy (Fig. 1) was referred to our mental retardation clinic for diagnosis and treatment sugges- tions. He was mildly mentally retarded (IQ: 65 on WISC- R), height was between the 3rd and 10th centile (120.8 cm), and weight was around the 3rd centile (20 kg). He was micromesocephalic [OFC 45.5 cm (well below the 2nd centile), cephalic index 75.91 and had joint hyper- laxity. The boy had a triangular face, epicanthal folds, downslanting palpebral fissures, hypertelorism (interpu- pillary distance 4.9 cm, 25th centile, >2 SD with regard to the OFC), micrognathia, winged scapulae, kyphotic appearance, and pectus excavatum. EKG and echocar- diogram were normal. The right testis was not palpable at birth and its remnant had been surgically removed at age 6 years. His skin was ichthyotic over the entire body, Address correspondence to Dr. Carmelo Schepis, Unit of Derma- tology, Oasi Institute (IRCCS), Via Conte Ruggero 73, 94018 Troina, Italy. 125