Lisch nodules of the iris in neurofibromatosis type 1.
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.
Richetta
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A
Università degli Studi di Roma La Sapienza, Dipartimento di Malattie Cutanee-Veneree e Chirurgia Plastica-Ricostruttiva, Viale del Policlinico 155, 00161 Rome, Italy.
Giustini
S
S
Recupero
S M
SM
Pezza
M
M
Carlomagno
V
V
Amoruso
G
G
Calvieri
S
S
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