Evaluating the use of JAK inhibitors in inflammatory connective tissue diseases in pediatric patients: an update.

INTRODUCTION: Connective tissue diseases (CTDs) are a category of conditions that affect tissues that support and provide structure to the body. These diseases include rheumatoid arthritis, systemic lupus erythematosus, dermatomyositis, and sclerosing diseases. CTDs can be caused by dysregulation of inflammatory pathways, specifically an upregulation of interferons and JAK/STAT pathway activation. AREAS COVERED: While CTDs have historically been treated with broadly immunosuppressant medications such as corticosteroids and disease-modifying antirheumatic drugs (DMARDS), newer and more targeted immunomodulating medications called Janus kinase inhibitors (JAKi) have emerged as potential treatments. EXPERT OPINION: While most studies regarding JAKi for CTDs have focused on adult populations, pediatric patients with CTDs may also benefit from JAKi therapy. Moreover, the JAK/STAT inhibitor tofacitinib has been approved by the FDA for the treatment of active polyarticular course juvenile idiopathic arthritis. In this review, we have summarized what has been published on the use of JAKi for various pediatric CTDs.

Epithelioid Sarcoma Presenting in the Thumb of a Child.

Epithelioid sarcoma (ES) is a high-grade, soft tissue tumor of mesenchymal origin that rarely occurs in children and is often misdiagnosed as a benign entity. We present the case of a 12-year-old girl with a delayed diagnosis of ES of the left thumb. Radiological examination showed possible calcinosis from inflammation or traumatic injury. However, histopathological and immunohistochemistry studies showed findings consistent with a diagnosis of ES. She was treated with amputation of the interphalangeal joint of the left thumb. This case highlights the clinical and pathologic correlation required for the appropriate diagnosis and treatment of patients with soft tissue masses.

Continuing patient care to underserved communities and medical education during the COVID-19 pandemic through a teledermatology student-run clinic.

A virtual pediatric dermatology student-run clinic was initiated during the COVID-19 pandemic, when in-person educational opportunities were limited. The clinic's aim is to provide high-quality dermatologic care to a diverse, underserved pediatric patient population while teaching trainees how to diagnose and manage common skin conditions. In our initial eight sessions, we served 37 patients, predominantly those with skin of color, and had a low no-show rate of 9.8%. This report describes the general structure of the clinic, goals, and the patient population to provide an overview of our educational model for those interested in similar efforts.

Pediatric primary cutaneous anaplastic large cell lymphoma treated with brachytherapy.

Primary cutaneous anaplastic large cell lymphoma (PC-ALCL) is a CD30+ lymphoproliferative disorder that rarely occurs in children. Although there are currently no consensus guidelines for the treatment of cutaneous lymphoma in the pediatric population, the isolated form of PC-ALCL is typically managed by surgical excision or external beam radiation therapy. We report the case of a 6-year-old girl with primary cutaneous anaplastic large cell lymphoma that was treated with brachytherapy with no recurrence after 21 months of follow-up, suggesting that brachytherapy may be considered as a treatment for pediatric cutaneous large cell anaplastic lymphoma.

Fair-y Tales: An analysis of children's books about sun safety.

INTRODUCTION: Skin cancer prevention should ideally begin with healthy sun protection habits during childhood. Children's books can be effective tools to introduce healthy habits early in life and should be targeted toward all children regardless of skin tone. This study examined sun protection guidelines and the representation of skin tones in commercial children's books. METHODS: We performed internet searches for children's books about sun protection. We compared content from these books to current sun protection guidelines from the American Academy of Dermatology (AAD). We assessed books for reading level, author profession, and skin tone representation. RESULTS: Seventeen books met study criteria. Of 19 factors surrounding sun protection provided by the AAD, the median number of factors mentioned within children's books was nine (range 3-13). Of the 13 books with color illustrations of people, one (7.6%) book depicted people with dark skin tones on the cover, and three (23.1%) books depicted people with dark skin tones within the story. CONCLUSION: Commercial children's books about sun protection incorporate some, but not all, of the AAD guidelines, and there is an inadequate representation of darker skin tones within and on the cover of these books.

Proliferating pilomatricoma in a 9-year-old girl.

Proliferating pilomatricoma is a rare, benign tumor of hair matrix origin that rarely occurs in children. We report the case of a 9-year-old girl with a rapidly growing, proliferating pilomatricoma located on the glabella. The lesion was embolized and surgically excised, with histopathological examination of the tissue confirming the diagnosis of proliferating pilomatricoma.

Dermatologic conditions in Down syndrome: A single-center retrospective chart review.

BACKGROUND: Current literature addressing dermatologic conditions associated with Down syndrome is limited, with emphasis on rare skin conditions and lack of consensus on the incidence of more common disorders. OBJECTIVE: We sought to evaluate dermatologic conditions in patients with Down syndrome diagnosed and managed by dermatologists. METHODS: This was a retrospective analysis of 101 pediatric and adult patients with Down syndrome seen by the University of Massachusetts Dermatology Department between 2008 and 2018. RESULTS: Folliculitis was the most common diagnosis overall (30.7%), followed by seborrheic dermatitis (26.7%) and hidradenitis suppurativa (22.8%). Eczematous dermatitis, alopecia areata, and xerosis were the most common diagnoses observed in children aged 0-12 years; hidradenitis suppurativa, folliculitis, and seborrheic dermatitis in adolescents aged 13-17 years; and folliculitis, seborrheic dermatitis, and xerosis in adults 18 years and older. Other notable diagnoses present overall included onychomycosis (9.9%) and psoriasis (8.9%). Malignant cutaneous tumors were present in two patients, specifically basal cell carcinoma and malignant melanoma in situ. LIMITATIONS: This was a retrospective, single-institution study. CONCLUSION: Dermatologic conditions in patients with Down syndrome vary by age but are most often adnexal and eczematous disorders. Trisomy of chromosome 21 and the resulting downstream effects, specifically on the immune system, may account for these findings.

Pediatric melanoma update.

Pediatric melanoma is a rare disease that affects approximately 6 out of every one million children and accounts for 1-4% of all melanomas. This article reviews the epidemiology, etiology, diagnosis, treatment and prognosis of pediatric melanoma - with particular attention to recent updates in the literature. While awareness of melanoma increases among the general population, recent data suggest stable and even declining incidence rates among certain pediatric populations. Studies have examined clinical features and presentations of melanoma among the pediatric population and the conventional ABCDE criteria (asymmetrical shape, border, color, diameter, evolving lesion) used to diagnosis adult melanoma may not be entirely appropriate for pediatric melanoma; as such, additional pediatric-ABCD and CUP criteria (color changing, ulceration, pyogenic granuloma-like lesions) have been proposed. Dermoscopy serves as a valuable tool to detect suggestive patterns among pediatric skin lesions, and aids in the monitoring of skin lesions and detection of melanoma among children and adolescents. The etiology and pathogenesis of the pediatric melanoma is currently being investigated; studies have examined the genetic alterations that may be involved with the development of pediatric melanomas including TERT promoter, BRAF, and NRAS among others. While genetic testing using molecular techniques such as comparative genomic hybridization and fluorescence in-situ hybridization is helpful for diagnosis in certain contexts, molecular workup is not considered standard of care among pediatric melanoma cases, and in fact has not been proven to reliably distinguish between benign and malignant spitzoid tumors in children. Our growing understanding of melanoma has informed treatment decisions regarding management of positive sentinel lymph nodes, use of adjuvant therapy, and use of immunotherapy in treatment plans.