Lisch nodules
DOI:
https://doi.org/10.70313/2718.7446.v17.n01.302Abstract
Lisch nodules are melanocytic hamartomas of the iris that are characterized as one of the pathognomonic markers of neurofibromatosis type 1 (NF1) or von Recklinghausen’s disease, an autosomal dominant neurocutaneous disorder characterized by the proliferation of pathological hamartomas of neural crest-derived tissues, the prevalence of which is 1 in 2,500 to 3,500 live births worldwide1....
References
Rodríguez-Lomba E, Lozano-Masdemont B. Lisch nodules: a key diagnostic sign of neurofibromatosis type 1. Actas Dermosifiliogr (Engl Ed) 2021; 112: 459-460.
Maharaj A, Singh VR, Lalchan SA. Lisch and the importance of his nodules. West Indian Med J 2014; 63: 799-802.
Kehrer-Sawatzki H, Cooper DN. Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants. Hum Genet 2022; 141: 177-191.
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