Neurofibromatosis 1: A family case series.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 35800488.
- Also identified by DOI 10.4103/jfmpc.jfmpc_1933_21 and PMC identifier 9254752.
- Licence recorded as CC BY-NC-SA.
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Abstract
Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease comes under a group of multisystem hereditary syndromes called phakomatoses. It presents with skin, ophthalmic, bony, and systemic manifestations. We present a photographically well-documented case series of NF in a family (<i>n</i> = 3). Skin manifestations were present in all the patients. The ophthalmic manifestations were Lisch nodules (100% of eyes), subcutaneous neurofibroma of eyelids (33% of eyes), mechanical ptosis (33% of eyes), and mechanical ectropion (16.5% of eyes). We report the rare occurrence of multiple solitary neurofibromas causing mechanical ptosis and mechanical ectropion.