Gardner syndrome describes a variant phenotype of familial adenomatous polyposis (FAP), primarily characterized by extracolonic lesions including osteomas, dental abnormalities, epidermal cysts, and soft tissue tumors. We describe a 2-yr-old boy presenting with a 2-cm soft tissue mass of the forehead. Pathologic evaluation revealed a nuchal-type/Gardner-associated fibroma. Sequencing of the
APC
gene revealed a pathologic variant c.4666dupA. Parental sequencing of both blood and buccal tissue supported the de novo occurrence of this pathologic variant. Further imaging revealed a number of additional lesions including a large lumbar paraspinal desmoid, a 1-cm palpable lesion posterior to the left knee, firm lesions on bilateral heels, and multiple subdermal lesions. Colonoscopy was negative. This case illustrates a genetic variant of Gardner syndrome resulting in an aggressive early childhood phenotype and highlights the need for an individualized approach to treatment.
Podcasts are online digital audio programs that are disseminated via online subscription that are easily accessible through computers or smartphones. Increasingly, residents and medical students are prioritizing podcasts for asynchronous medical education due to ease of use, convenience (eg, use while exercising or commuting), and repeatability. Some trainees have found podcasts more useful than traditional didactic lectures. Given the increasing requirements of social distancing and the need for distance medical education platforms, podcast production can serve as a useful tool to complement resident and medical student education and is a resource that will remain accessible in perpetuity. An otolaryngology specialty podcast, “Headmirror’s ENT in a Nutshell,” was created to augment asynchronous learning and address the acute need for distance learning opportunities. Over the first 7 weeks of production, 50 episodes were created. Episodes were posted on www.headmirror.com, with subscription services available through Apple Podcast, Spotify, and other platforms.
Objective Although granulomatosis with polyangiitis (GPA; Wegener’s granulomatosis) is classically characterized by systemic disease involving the kidneys and airway, approximately 10% of patients who have it present with isolated central nervous system disease. When involving the skull base, GPA frequently mimics more common pathology, resulting in diagnostic challenges and delay. The primary objective of this study is to characterize the cranial base manifestations of GPA, highlighting aspects most relevant to the skull base surgeon. Study Design Retrospective review. Setting Tertiary academic referral center. Subjects and Methods Retrospective analysis of all patients with skull base GPA treated at a tertiary referral center from January 1, 1996, to May 1, 2018. Results Twenty-nine patients met inclusion criteria. Twenty-one (72%) initially presented with skull base symptomatology as their cardinal manifestation of GPA. Twenty-four (82%) presented with cranial neuropathy at some point in their disease course. The trigeminal nerve was most commonly involved (12 of 24, 50%), followed by the facial (11 of 24, 46%) and optic (8 of 24, 33%) nerves. Eighteen patients reported hearing loss attributed to the GPA disease process, presenting as conductive, sensorineural, or mixed. The most common locations for GPA-derived inflammatory skull base disease on imaging included the cavernous sinus (12 of 29, 41%) and the orbit (7 of 29, 24%). Conclusion Establishing the diagnosis of skull base GPA remains challenging. Cranial neuropathy is diverse in presentation and often mimics more common conditions. Imaging findings are also unpredictable and frequently nonspecific. Careful review of patient history, clinical presentation, serology and biopsy results, and imaging can reveal important clues toward the diagnosis.
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