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Melis L. 1, Spataro A. 1, Carlesimo S. C. 2, Pala S. 3
1 Dipartimento di Malattie Cutanee e Veneree, Università “La Sapienza”, Policlinico Umberto I, Roma, Italia
2 Dipartimento di Scienze Oftalmologiche, Università “La Sapienza”, Policlinico Umberto I, Roma, Italia
3 Dipartimento di Malattie Infettive e Tropicali, Università “La Sapienza”, Policlinico Umberto I, Roma, Italia
The presence of two or more Lisch nodules (melanocytic hamartomas of the iris) is one of the seven diagnostic criteria for neurofibromatosis type 1 (NF1), a common neurocutaneous disorder affecting about 1 in every 4000 individuals. It is an autosomal dominant hereditary condition, fully penetrant with variable clinical expression, although an half of all cases are related with spontaneous mutations. Lisch nodules are melanocytic hamartomas consisting of melanocytic cells containing various quantities of pigment. They can be found in 90-100% of neurofibromatosis patients over six years of age and they must be distinguished from other iris nodules: nevi, melanoma, inflammatory nodules, and development anomalies. We report the case of an 18-year-old guy, who came at our Department for a normal eye test, in which the detection of rare Lisch nodules in both eyes at slit lamp biomicroscopy allowed to suspect and diagnose neurofibromatosis.
language: English, Italian