title: 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 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.
authors.affiliation: Università degli Studi di Roma La Sapienza, Dipartimento di Malattie Cutanee-Veneree e Chirurgia Plastica-Ricostruttiva, Viale del Policlinico 155, 00161 Rome, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Richetta
authors.forename: S
authors.initials: S
authors.lastname: Giustini
authors.forename: S M
authors.initials: SM
authors.lastname: Recupero
authors.forename: M
authors.initials: M
authors.lastname: Pezza
authors.forename: V
authors.initials: V
authors.lastname: Carlomagno
authors.forename: G
authors.initials: G
authors.lastname: Amoruso
authors.forename: S
authors.initials: S
authors.lastname: Calvieri
mesh_terms: D001707:Biopsy, Needle; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007498:Iris / Q000473:pathology*; D015811:Iris Neoplasms / Q000175:diagnosis / Q000473:pathology*; D008407:Mast Cells / Q000473:pathology; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000175:diagnosis*; D011379:Prognosis; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index