Malignant solitary fibrous tumor of the orbit: Spectrum of histologic features

Purpose: Primary malignant solitary fibrous tumor (SFT) of the orbit is a rare spindle cell neoplasm that requires excisional biopsy for histopathological diagnosis. We present a clinical case using contemporary immunohistochemical stains, report on the latest World Health Organization classification, and provide a review of the literature. Observations: Report of a single case of a 65 year old male who presented with right-sided proptosis, limited adduction, ptosis, lateral globe displacement, and cheek festooning. Neuroimaging revealed a 2.2 cm, extraconal heterogeneous mass that diffusely enhanced. En-bloc tumor resection confirmed SFT malignancy based upon nuclear atypia, hypercellularity, and increased mitotic activity (13 mitotic figures/10 high powered fields). Ki-67 showed 2% nuclear staining in the benign tumor and 10–15% staining in the malignant counterpart. Immunohistochemical analysis revealed diffuse Stat6 positivity, CD 34 positivity with partial lack of staining within the malignant portion, S-100 positivity in the malignant portion, and overall negativity for CAM 5.2, desmin, actin, CD 31, and CD 117. Conclusions and importance: Immunoprofiling is helpful to making the diagnosis of malignant solitary fibrous tumor of the orbit. Complete tumor resection continues to be the preferred treatment. The behavior of extrathoracic SFT is unpredictable, and patients with SFT in all locations require careful, long-term follow-up

Implants and spacers for paralytic ectropion: Literature review and assessment of a thin-profile porous polyethylene implant

Purpose: There is no ideal treatment paradigm for paralytic ectropion. This study evaluated lower eyelid spacers and the efficacy of a novel lower eyelid thin profile, bio-integratable, porous polyethylene. Methods: A retrospective review of 15 consecutive patients who underwent thin-profile porous polyethylene implantation and canthoplasty for paralytic ectropion was carried out. A comprehensive literature review of spacers for paralytic ectropion and retraction using the Pubmed database with search terms “[implant or graft or spacer] and [paralytic ectropion or paralytic retraction],” “graft and paralysis and ectropion,” “implant and paralysis and ectropion,” “graft and paralysis and retraction,” and “implant and paralysis and retraction” was carried out. Results: The mean patient age was 69 years (range: 50–88). Lagophthalmos improved from a mean of 5.7 mm (SD = 3.3, range 3–14 mm) to 1.4 mm (SD = 1.1, range 0–3.5 mm), P < 0.0001. MRD 2 improved from a mean of 6.7 mm (SD = 2.3, range 2–12 mm) to 4.2 mm (SD = 0.9, range 3–6 mm), P = 0.0005. No patients needed additional lower eyelid surgery. There were no implant exposures at a mean follow-up of 7.6 months (SD = 7.9, range 0.7–21.6 months). Detailed literature review revealed that hard palate and ear cartilage are the most reported spacers, each with unique disadvantages. Conclusion: The thin-profile porous polyethylene implant is a useful addition to the management of symptomatic paralytic ectropion. Meaningful comparison of lower eyelid spacers is difficult because of variations in surgical technique, spacer size, and poorly reported outcome data. No spacer proves superior

Bilobed flap reconstruction after en-bloc removal of solitary fibrous tumor of the lacrimal sac

Purpose: To report a rare case of a solitary fibrous tumor (SFT) of the lacrimal sac and discuss considerations for management of similar cases. Observations: We present the case of a 41-year-old woman who presented with a primary lacrimal sac SFT for which she underwent en-bloc surgical resection. We discuss management options for SFTs and our surgical approach for this case: bilobed flap reconstruction of the medial canthus and inferior orbit. Conclusions: We present an uncommon presentation of a rare tumor and a successful one-stage reconstruction with a bilobed flap

The spectrum of SCNIA-related infantile epileptic encephalopathies

The relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established. To explore the phenotypic variability associated with SCN1A mutations, 188 patients with a range of epileptic encephalopathies were examined for SCN1A sequence variations by denaturing high performance liquid chromatography and sequencing. All patients had seizure onset within the first 2 years of life. A higher proportion of mutations were identified in patients with SMEI (52/66; 79%) compared to patients with SMEB (25/36; 69%). By studying a broader spectrum of infantile epileptic encephalopathies, we identified mutations in other syndromes including cryptogenic generalized epilepsy (24%) and cryptogenic focal epilepsy (22%). Within the latter group, a distinctive subgroup designated as severe infantile multifocal epilepsy had SCN1A mutations in three of five cases. This phenotype is characterized by early onset multifocal seizures and later cognitive decline. Knowledge of an expanded spectrum of epileptic encephalopathies associated with SCN1A mutations allows earlier diagnostic confirmation for children with these devastating disorders.Louise A. Harkin, Jacinta M. McMahon, Xenia Iona, Leanne Dibbens, James T. Pelekanos, Sameer M. Zuberi, Lynette G. Sadleir, Eva Andermann, Deepak Gill, Kevin Farrell, Mary Connolly, Thorsten Stanley, Michael Harbord, Frederick Andermann, Jing Wang, Sat Dev Batish, Jeffrey G. Jones, William K. Seltzer, Alison Gardner, The Infantile Epileptic Encephalopathy Referral Consortium, Grant Sutherland, Samuel F. Berkovic, John C. Mulley, and Ingrid E. Scheffe