Histologic correlates of "Choroidal abnormalities" in Neurofibromatosis type 1 (NF1).

Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder characterized by proliferation of cells from neural crest origin. The most common manifestations are cutaneous, neurologic, skeletal and ocular. The distinction of NF1 from other syndromes with multiple café-au-lait macules may be difficult in the pediatric age group, and ocular findings, especially Lisch nodules (i.e., melanocytic hamartomas on the irides), are a useful, early diagnostic tool. In recent years, novel ocular manifestations descriptively referred to as "choroidal abnormalities", choroidal "hyperpigmented spots" and "retinal vascular abnormalities" have been recognized in NF1. Choroidal abnormalities (CA) appear as bright patchy nodules that can be best detected with near-infrared ocular coherence tomography imaging (NIR-OCT). Because of their high specificity and sensitivity for NF1, CA have been added as an ocular diagnostic criterion of NF1 as an alternative to Lisch nodules. Although CA are important ocular diagnostic criteria for NF1, the histologic correlates are controversial. We present the postmortem ocular pathology findings of an NF1 patient for whom clinical notes and ocular imaging were available. Findings in this patient included choroidal hyperpigmented spots on funduscopy and retinal vascular abnormalities, both of which have been reported to be closely associated with CA. Histologic examination of the eyes showed multiple clusters of melanocytes of varying sizes in the choroid. Pathologic review of 12 additional postmortem eyes from 6 NF1 patients showed multiple, bilateral choroidal melanocytic aggregates in all eyes. These findings suggest that the CA seen on NIR-OCT and the hyperpigmented spots seen clinically in NF1 patients are manifestations of multifocal choroidal melanocytic clusters, consistent with choroidal melanocytic hamartomas. Lisch nodules, often multiple, were present in all eyes with morphology that differed from the choroidal hamartomas. As such, although CA and Lisch nodules are melanocytic hamartomas, there are clear phenotypical differences in their morphologies.

Antisynthetase Syndrome Causing Necrotizing Myositis Involving Extraocular Muscles.

The authors describe the clinical, histologic, and serologic findings of a patient with necrotizing myositis of the extraocular muscles in the setting of antisynthetase syndrome, as well as subsequent management. This is the first case in the literature of a systemic necrotizing myositis to have associated ophthalmic findings.

Prospective Sensory Outcomes for Targeted Nipple Areola Complex Reinnervation (TNR) in Gender-Affirming Double Incision Mastectomy with Free Nipple Grafting.

OBJECTIVE: This study analyses the anatomy and sensory outcomes of targeted nipple areola complex reinnervation (TNR) in gender-affirming double incision mastectomy with free nipple grafting (FNG). BACKGROUND: TNR is a novel technique to preserve and reconstruct intercostal nerves (ICN) to improve postoperative sensation. There is little evidence on relevant anatomy and outcomes. METHODS: 25 patients were prospectively enrolled. Data included demographics, surgical technique, and axon/fascicle counts. Quantitative sensory evaluation using monofilaments and qualitative patient reported questionnaires were completed preoperatively, and at one, three, six, nine and twelve months postoperatively. RESULTS: 50 mastectomies were performed. Per mastectomy, the median number of ICN found and used was 2 (1-5). Axon and fascicle counts were not significantly different between ICN branches ( P >0.05). BMI ≥30 kg/m 2 and mastectomy weight ≥800 g were associated with significantly worse preoperative sensation ( P <0.05). Compared to preoperative values, NAC sensation was worse at 1 month ( P <0.01), comparable at 3 months ( P >0.05), and significantly better at 12 months ( P <0.05) postoperatively. Chest sensation was comparable to the preoperative measurements at 1 and 3 months ( P >0.05), and significantly better at 12 months ( P <0.05) postoperatively. NAC sensation was significantly better when direct coaptation was performed compared to use of allograft only ( P <0.05), and with direct coaptation of ≥2 branches compared to direct coaptation of a single branch ( P <0.05). All patients reported return of nipple and chest sensation at one year postoperatively and 88% reported return of some degree of erogenous sensation. CONCLUSION: TNR allows for restoration of NAC and chest sensation within 3 months postoperatively. Use of multiple ICN branches and direct coaptation led to the best sensory outcomes.

Surgical management of an abscess of the insula.

Background: Mass lesions within the insular are diagnostically and surgically challenging due to the numerous critical cortical, subcortical, and vascular structures surrounding the region. Two main surgical techniques - the transsylvian approach and the transcortical approach - provide access to the insular cortex. Of the range of pathologies encountered, abscesses in the insula are surprisingly rare. Case Description: A 34-year-old patient was admitted for surgical resection of a suspected high-grade glioma in the insula of the dominant hemisphere. A rapid clinical decline prompted emergent neurosurgical intervention using a transsylvian approach. Surprisingly, abundant purulent material was encountered on entering the insular fossa. Pathological analysis confirmed an insular abscess, although a source of infection could not be identified. The patient required a second evacuation for reaccumulation of the abscess and adjuvant corticosteroids for extensive cerebral edema. Conclusion: An abscess located in the insular cortex is an incredibly rare occurrence. Surgical management using the transsylvian approach is one option to approach this region. Familiarity with this approach is thus extremely beneficial in situations requiring emergent access to the dominant insula when awake mapping is not feasible. In addition, treatment of abscesses with adjuvant corticosteroids is indicated when extensive, life-threatening cerebral edema is present.