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BACKGROUND AND OBJECTIVE: As the population and life expectancy of people with Down syndrome increases, identifying common skin conditions throughout the lifespan will help inform clinical care and research. We sought to evaluate dermatologic conditions diagnosed in pediatric and adult patients with Down syndrome. METHODS: This multicenter retrospective study analyzed demographic and outpatient visit International Classification of Diseases codes of patients with Down syndrome evaluated at outpatient dermatology clinics in the United States or Canada between 2011 and 2021. RESULTS: A total of 1529 patients with Down syndrome were identified from eight academic medical centers: 50.8% were children (0-12 years), 25.2% were adolescents (13-17 years), and 24% were adults (18 years and older). Eczematous dermatitis was the most common diagnosis overall (26%), followed by folliculitis (19.3%) and seborrheic dermatitis (15.6%). Other notable diagnoses included dermatophyte infections (13%), alopecia areata (11.6%), and psoriasis (6.7%). About 4.3% of visits included a code for high-risk medication use. Eczematous dermatitis, alopecia areata, and folliculitis were the most common diagnoses observed in children; folliculitis, hidradenitis suppurativa, and eczematous dermatitis in adolescents; and seborrheic dermatitis, eczematous dermatitis, and folliculitis in adults. CONCLUSIONS: Dermatologic conditions in patients with Down syndrome vary by age, but are most often eczematous, adnexal, and cutaneous autoimmune disorders. This multicenter retrospective review identifies skin diseases that should be prioritized for clinical care guideline development and research in the Down syndrome community.
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BACKGROUND: Double pituitary adenomas are rare presentations of two distinct adenohypophyseal lesions seen in <1% of surgical cases. Increased rates of recurrence or persistence are reported in the resection of Cushing microadenomas and are attributed to the small tumor size and localization difficulties. The authors report a case of surgical treatment failure of Cushing disease because of the presence of a secondary pituitary adenoma. OBSERVATIONS: A 32-year-old woman with a history of prolactin excess and pituitary lesion presented with oligomenorrhea, weight gain, facial fullness, and hirsutism. Urinary and nighttime salivary cortisol elevation were elevated. Magnetic resonance imaging confirmed a 4-mm3 pituitary lesion. Inferior petrosal sinus sampling was diagnostic for Cushing disease. Primary endoscopic endonasal transsphenoidal resection was performed to remove what was determined to be a lactotroph-secreting tumor on immunohistochemistry with persistent hypercortisolism. Repeat resection yielded a corticotroph-secreting tumor and postoperative hypoadrenalism followed by long-term normalization of the hypothalamic-pituitary-adrenal axis. LESSONS: This case demonstrates the importance of multidisciplinary management and postoperative hormonal follow-up in patients with Cushing disease. Improved strategies for localization of the active tumor in double pituitary adenomas are essential for primary surgical success and resolution of endocrinopathies.
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Squamous cell carcinoma (SCC) is the second most prominent form of skin malignancy. It occurs most frequently in older males with fair skin complexion that have extensive sun exposure most commonly in their childhood. The metastatic presentation of SCC is rare and is most common in the lung. In this paper, we present the unique case of a 73-year-old patient with sarcomatoid squamous cell carcinoma in their posterior neck that metastasized to the brain.
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Tension pneumocephalus (TP) is a rare neurosurgical emergency due to the rise of intracranial pressure from air in the cranial cavity. Tension pneumocephalus' clinical presentation ranges from headache, visual alterations, altered mental status, and death. Given its nonspecific clinical presentation, tension pneumocephalus is usually diagnosed via computed tomography (CT) imaging. Open burr hole craniotomy is the preferred treatment method for tension pneumocephalus. Subdural evacuating port system (SEPS) drains have, however, seen increased utilization in neurosurgery due to decreased possibilities for infections, reduced seizure probability, and better outcomes post-surgery, especially for elderly patients. In this article, we present the case of a 67-year-old female with postoperative tension pneumocephalus after the evacuation of an acute subdural hematoma. The patient became symptomatic from tension pneumocephalus, which was evacuated using a subdural evacuating port system drain. Post-drain placement, the patient had a radiographic and clinical resolution of her tension pneumocephalus. Thesubdural evacuating port system is a useful adjunctive tool for treating tension pneumocephalus.Given the favorable characteristic profile of subdural evacuating port system drains compared to open surgical modalities, further inquiry should be pursued to analyze the feasibility of establishing subdural evacuating port systems as a less invasive treatment alternative.