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Mitogen-activated extracellular signal-regulated kinase inhibitors (MEKi) represent a promising new therapy for pediatric patients with low-grade gliomas, which frequently have abnormal signaling within the mitogen-activated protein kinase (MAP kinase) pathway. However, understanding of long-term efficacy and toxicity is limited in pediatric glioma patients. This article describes a rare presentation of a widespread cutaneous infection with Mycobacterium chelonae in a pediatric patient with a low-grade glioma treated with trametinib.
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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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Down syndrome (DS) is the most common chromosomal condition and affects many organs including the skin. Dermatologists are an integral part of the DS care team. This is a review of both common and rare dermatologic conditions in DS. We provide practical strategies for a successful dermatology interview and examination. We explore the downstream effects of trisomy of chromosome 21, in particular on the immune system, and how these insights may enhance our pathophysiologic understanding of their cutaneous conditions.