Rachel Lukschal Frauches
Affiliate, Department Funds
Resident in Pathology
All Publications
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A Unique Case of Pediatric Orbital Nodular Fasciitis with a Confirmed USP6 Fusion Mutation.
Ophthalmic plastic and reconstructive surgery
2025
Abstract
Nodular fasciitis is a benign, pseudoneoplastic condition often misdiagnosed as sarcoma due to its rapid growth, high cellularity, and mitotic activity. Herein is reported a case of a 7-year-old patient with a painless, enlarging nodule in the left superolateral orbit. Ultrasound revealed a 7.5 mm cystic mass, which was excised via an upper eyelid crease anterior orbitotomy. Histopathologic studies showed benign spindle cells, and molecular testing identified a UBC::USP6 fusion, confirming the diagnosis of nodular fasciitis. Nodular fasciitis is most common in the limbs, trunk, and head or neck region, with fewer than 1% of cases occurring in the orbit. Molecular testing is critical in differentiating this condition from malignancies. Complete surgical excision is the preferred treatment, with a low recurrence rate of 1% to 2%. This is the first reported pediatric case of orbital nodular fasciitis with a UBC::USP6 fusion mutation.
View details for DOI 10.1097/IOP.0000000000002981
View details for PubMedID 40607589
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Pathophysiology of intraoperative floppy iris syndrome: An unsettled debate.
Survey of ophthalmology
2025
Abstract
Intraoperative floppy iris syndrome (IFIS)--characterized by iris blowing, prolapse, and progressive miosis during phacoemulsification surgery--poses significant challenges for eye surgeons. Despite being described almost 2 decades ago, its pathophysiology remains unclear. Initially, IFIS was thought to be a result of sympathetic signal blockage in the iris dilator muscle, since α-blockers such as tamsulosin were found to be a strong predisposing factor; however, many IFIS cases occur even in patients who discontinued α-blockers prior to cataract surgery. Several potential mechanisms through which α-blockers induces chronic changes in the iris - iris dilator atrophy, drug-melanin interaction, and loss of vascular tone - have been proposed as possible mechanisms. We address the prevailing theories on α-receptor-dependent mechanisms for IFIS and the current prophylactic measures undertaken to prevent IFIS-associated intraocular complications.
View details for DOI 10.1016/j.survophthal.2025.06.002
View details for PubMedID 40472999
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Machine Learning Detection, Classification, and Quantification of Rosettes for Retinoblastoma Tumor Grading and Clinical Prognosis
ASSOC RESEARCH VISION OPHTHALMOLOGY INC. 2025
View details for Web of Science ID 001560059200045
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Conjunctival blue nevus in a child - Case report and review of literature.
American journal of ophthalmology case reports
2024; 36: 102151
Abstract
To report a rare case of a conjunctival blue nevus in a child.A 10-year-old girl underwent an excisional biopsy for an atypical growing melanocytic conjunctival lesion. The diagnosis of a conjunctival blue nevus was confirmed on histopathology. We describe the histopathology and the anterior segment optical coherence tomography features of a blue nevus in a 10-year-old child along with a review of literature.Conjunctival blue nevus is rare and has rarely been reported in a child. Multimodal imaging may help document lesion progression. This condition should remain in the differential for a growing, pigmented conjunctival lesion.
View details for DOI 10.1016/j.ajoc.2024.102151
View details for PubMedID 39282597
View details for PubMedCentralID PMC11396036
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Ocular Surface Fibroma of the Bulbar Conjunctiva.
Ophthalmology
2024
View details for DOI 10.1016/j.ophtha.2024.05.008
View details for PubMedID 38958614
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Comparison of clinical slit lamp exam and specular microscopy vs histology on diagnosis of guttae
ASSOC RESEARCH VISION OPHTHALMOLOGY INC. 2024
View details for Web of Science ID 001312227705321
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Clinicopathologic Characterization of Guttae Containing and Non-Guttae Fuchs' Endothelial Dystrophy
ELSEVIER SCIENCE INC. 2024: S1745
View details for Web of Science ID 001302363406090