An intriguing case of LEOPARD syndrome.
We report a 9-year-old boy affected by LEOPARD syndrome, who also had ichthyosis, axillary freckling, two café 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 syndrome spectrum.
Schepis
C
C
Unit of Dermatology, Oasi Institute (IRCCS) for Research in Mental Retardation and Brain Aging, Troina, Italy.
Greco
D
D
Siragusa
M
M
Batolo
D
D
Romano
C
C
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D003937:Diagnosis, Differential; D006801:Humans; D017495:Hyperpigmentation / Q000175:diagnosis; D007057:Ichthyosis / Q000175:diagnosis; D007911:Lentigo / Q000175:diagnosis*; D008297:Male; D009455:Neurofibroma / Q000175:diagnosis; D012871:Skin Diseases / Q000175:diagnosis*; D013577:Syndrome