Surgical Management of Pachyonychia Congenita in a 3-Year-Old.

Pachyonychia congenita is a rare genetic disorder characterized by hypertrophic nail plates, hyperkeratotic nail beds, and thickened hyponychium of the fingers and toes, impairing manual dexterity and resulting in poor aesthetics. The current body of literature describes various treatment modalities, but no singular approach has been defined as the gold standard. In this case, the authors employed different surgical techniques for treating pachyonychia congenita to evaluate the most effective approach. A 3-year-old boy presented with hypertrophic nail growth involving all digits of both hands and feet. Three surgical procedures were performed on the patient's fingers and toes using germinal matrix excision (GME) alone, GME plus partial sterile matrix excision (pSME), or GME plus complete sterile matrix excision (cSME). The digits treated with GME + cSME exhibited no recurrence of nail growth. Those treated with GME alone exhibited recurrence of hypertrophic nail growth, although their growth slowed. Excision of GME + cSME prevented recurrence of hypertrophic nails, while GME alone or with pSME led to slower-growing hypertrophic nails. Complete excision of the germinal and sterile matrices with skin graft closure may be a definitive treatment for pachyonychia congenita, but further studies are needed to validate these findings.

An algorithm for the treatment of concurrent pituitary adenoma and cavernous sinus aneurysm: A systematic review & case report.

BACKGROUND: Rarely, Pituitary adenomas (PA) can co-occur with intrasellar or intracavernous aneurysms. There is currently no clear guidance for the management of this dual pathology. We attempt to provide an algorithm to help guide clinical decision making for treatment of PAs co-occurring with adjacent cerebral aneurysms. METHODS: A comprehensive literature search was conducted following PRISMA guidelines using various databases. Search terms included "(Pituitary Adenoma OR Prolactinoma OR Macroadenoma OR Adenoma) AND (ICA OR Internal Carotid Artery OR paracliniod OR clinoid) Aneurysm AND (Intra-cavernous OR intracavernous OR intrasellar OR Cavernous)." RESULTS: A total of 24 studies with 24 patients were included. Twelve (50%) patients experienced visual symptoms. Ten patients (42%) had an aneurysm embedded within the adenoma. Fourteen patients (58%) had an aneurysm adjacent to the adenoma. Embedded aneurysms were significantly associated with rupture events. CONCLUSION: Vision loss is the most pressing determinant of treatment. In the absence of visual symptoms, the aneurysm should be treated first by coil embolization. If not amenable to coiling, place flow diverting stent followed by six months of anticoagulation and antiplatelet therapy. If visual loss is apparent, the adenoma-aneurysm spatial relationship becomes critical. In cases of an adjacent aneurysm, the adenoma should be removed transsphenoidally with extreme care and aneurysm rupture protocols in place. If the aneurysm is embedded within the adenoma, then a BTO is favored with permanent ICA occlusion followed by transsphenoidal resection if adequate collateral supply is demonstrated. If there is inadequate collateral supply, then an open-approach for amenable aneurysms with transcranial adenoma debulking should be performed.

First in-human intrathecal delivery of bevacizumab for leptomeningeal spread from recurrent glioblastoma: rationale for a dose escalation trial.

PURPOSE: To outline the dose rationale for the first in-human intrathecal delivery of bevacizumab for LMS of GBM. METHODS: A 19-year-old female patient presented to Lenox Hill Hospital following thalamic GBM recurrence. She subsequently underwent two infusions of intra-arterial BEV (NCT01269853) and experienced a period of relative disease stability until progression in 2022. One month later, MRI disclosed diffuse enhancement representative of LMS of GBM. The patient subsequently underwent five cycles of IT BEV in mid-2022 (IND 162119). Doses of 25 mg, 37.5 mg, 50 mg, 50 mg, and 37.8 mg were delivered at two-week intervals between doses 1-4. The final 37.8 mg dose was given one day following her fourth dose, given that the patient was to be discharged, traveled several hours to our center, and was tolerating therapy well. Dosage was decreased due to the short interval between the final two treatments. Shortly after IT BEV completion, she received a third dose of IA BEV. RESULTS: Our patient did not show any signs of serious adverse effects or dose limiting toxicities following any of the treatments. It is difficult to determine PFS due to the rapid progression associated with LMS of GBM and rapid timeframe of treatment. CONCLUSION: LMS continues to be a devastating progression in many types of cancer, including GBM, and novel ways to deliver therapeutics may offer patients symptomatic and therapeutic benefits.

Improvement in visual outcomes of patients with base of skull meningioma as a result of evolution in the treatment techniques in the last three decades: a systematic review.

PURPOSE: We systematically reviewed visual outcomes over the last three decades in patients undergoing treatment for base of skull (BOS) meningiomas and provide recommendations to preserve vision. METHODS: In accordance with the PRISMA guidelines for systematic reviews, a search was conducted from 6/1/2022-9/1/2022 using PubMed and Web of Science. Inclusion criteria included (1) patients treated for BOS meningiomas (2) treatment modality specified (3) specifics of surgical techniques and/or dose/fractions of radiotherapy (4) individual patient outcomes of treatment. Each study was assessed for bias based on study design and heterogeneity of results. RESULTS: A total of 50 studies were included (N = 2911). When comparing improved vision versus unchanged or worsened vision, studies investigating surgery alone published from 2006 and onward had significantly better visual outcomes compared to pre-2006 studies (p = 0.02). When comparing improved vision versus unchanged or worsened vision, studies investigating combined therapy with surgery and radiation published from 2008 and onward had significantly better visual outcomes compared to pre-2008 studies (p < 0.01). Combined modality therapy was less likely to worsen vision compared to either surgery or radiation monotherapy (p < 0.01). However, surgery and radiation monotherapy were more likely to actually improve outcomes compared to combination therapy (p < 0.01). CONCLUSION: For over a decade we have observed improvement in visual outcomes in patients managed for meningioma of BOS, likely attributing the innovation in microsurgical and more targeted and conformal radiation techniques. Combination therapy may be the safest option for preventing worsening of vision, but the highest rates of improving visual function are achieved through monotherapy when indicated.

Oropharyngeal Secondary Syphilis Mimicking Metastatic Lymphoma in an HIV-Positive Patient.

Syphilis is a bacterial infection commonly transmitted by sexual contact. It has variable manifestations and can mimic other disease processes or infections. This report presents the case of a 48-year-old HIV-positive male who was referred to our head and neck clinic with complaints of tonsillar hypertrophy and ulceration accompanied by a one-month history of ipsilateral cervical lymphadenopathy and facial pain in the setting of recent unexplained weight loss and abnormal radiographic imaging of the neck. In-office tonsillar biopsy and fine-needle aspiration of a neck mass revealed a non-diagnostic atypical lymphoid proliferation. Surgical pathology following an open biopsy in the operating room showed Treponema pallidum infection, which was diagnostic for secondary syphilis.