We report a 9-year-old boy affected by LEOPARD syndrome, who also had ichthyosis, axillary freckling, two cafe au lair 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.

An intriguing case of LEOPARD syndrome

Siragusa M.;Romano C.
1998-01-01

Abstract

We report a 9-year-old boy affected by LEOPARD syndrome, who also had ichthyosis, axillary freckling, two cafe au lair 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.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11769/631594
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