Lisch nodules of the iris in neurofibromatosis type 1

ABSTRACT Neurofibromatosis type 1 (NF1) is a common autosomal dominant disease. The Lisch nodule represents one of the most common NF1 ocular manifestations. Several studies have reported that the Lisch nodule is a melanocytic hamartoma but its pathogenesis is still debated. We have studied the hist...

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Veröffentlicht in:Journal of the European Academy of Dermatology and Venereology 2004-05, Vol.18 (3), p.342-344
Hauptverfasser: Richetta, A, Giustini, S, Recupero, SM, Pezza, M, Carlomagno, V, Amoruso, G, Calvieri, S
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Sprache:eng
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Zusammenfassung:ABSTRACT Neurofibromatosis type 1 (NF1) is a common autosomal dominant disease. The Lisch nodule represents one of the most common NF1 ocular manifestations. Several studies have reported that the Lisch nodule is a melanocytic hamartoma but its pathogenesis is still debated. We have studied the histopathological and ultrastructural features of a Lisch nodule of a 50‐year‐old woman biopsied during an intracapsular cataract extraction. Our researches revealed that it was composed of three main cytotypes: pigmented cells, fibroblast‐like cells and mast cells, showing a pattern similar to a neurofibroma. Furthermore, we hypothesize that Lisch nodules are compatible with neurofibromas.
ISSN:0926-9959
1468-3083
DOI:10.1111/j.1468-3083.2004.00915.x