Pediatric Dermatology最新文献

Vitamin D-dependent rickets type 2A (VDDR2A) is a rare cause of infantile-onset alopecia, characterized by severe hypotrichosis, small cutaneous cysts, early-onset treatment-resistant rickets, and hypocalcemia. Alopecia, often starting a few weeks to months after birth, may be the presenting feature. We present three cases of VDDR2A with genetic variants in the vitamin D receptor (VDR) gene, their clinical features and biochemical parameters. This case series emphasizes that early identification of this rare cause of alopecia and treating the metabolic abnormalities can improve bone health.

Central line dressings (CLDs) may be associated with adverse skin reactions in hospitalized children. Currently, standardized protocols to guide the management of cutaneous CLD reactions are unavailable at our children's hospital and in the pediatric literature. We surveyed dermatologists at multiple institutions who routinely perform pediatric consults to assess their management practices and/or the use of standardized protocols for addressing adverse cutaneous reactions to CLDs. All (n = 35) respondents reported receiving CLD-related consults, often involving interdisciplinary teams, yet most (66%) did not have standardized management protocols. When available, reported protocols for the management of CLD-associated skin reactions differed, including variable inclusion of chlorhexidine gluconate within polyurethane dressings and the use of patch testing for allergies or irritant reactions to applied products. Our findings support the need to further clarify patient and agent-specific factors predisposing to CLD-associated skin reactions and to develop and validate a multicenter protocol to optimize the management of CLD-associated skin reactions.

Munchausen syndrome by proxy is extremely difficult to diagnose. A case is presented of a 17-month-old girl who repeatedly sustained cold burns caused by a spray deodorant and inflicted by her mother. A comprehensive medical investigation, including blood assessments, skin biopsies and imaging were inconclusive. The pivotal finding for the diagnosis was the detection of aluminum at high concentrations in the skin swab specimens utilizing mass spectrometry.

While atopic dermatitis (AD) is one of the most common childhood inflammatory conditions and has been associated with decreased parental sleep quality, most of the reports on this topic are single-institutional in nature with relatively small sample sizes. Thus, to assess the association of childhood AD with parental sleep on a national scale, we utilized the 2013-2018 National Health Interview Survey (NHIS) and conducted multivariable logistic regression analyses. 6,130,919 (mean age: 7.9 years, standard error [SE]: 0.08) weighted participants had parent-reported AD (12.9%) and having a child with AD decreased the odds of acquiring 7 hours of sleep (aOR, 0.78; [95% CI 0.72-0.85]) and increased the odds of taking medications to aid sleep (aOR, 1.26; [95% CI 1.12-1.43]). Our findings suggest that having a child with pediatric AD increases the odds of parents not meeting the 7 hours of sleep recommended by the American Academy of Sleep Medicine, underscoring the indirect burden of this condition.

Pediatric dermatology patients with intellectual and developmental disabilities (IDD) and comorbid cutaneous conditions often face barriers to effective healthcare due to differences in communication preferences and sensitivities to environmental factors. The clinical intake process serves as a potential intervention point to help better understand and meet patients' needs. Strengths-based assessment and considerations around identity-first versus person-first language are tools that can improve the clinical intake process in pediatric dermatology. We provide examples of intake questions and recommendations to help guide IDD-informed care.

Background and objectives: A wholesale recommendation against use of live virus vaccines in patients treated with any medication classified as an immunosuppressant has been based on global theoretical concerns rather than clinical outcomes for specific drugs.

Methods: A retrospective search of electronic medical records identified patients seen by the Allergy and/or Dermatology services between 2017 and 2023 at a pediatric tertiary center who received a live attenuated vaccine during the 6 week interval prior to the first prescription for methotrexate or dupilumab until 6 weeks after the last prescription for either medication. Individual charts of identified patients were manually reviewed for evidence of adverse events.

Results: The search identified 313 pediatric patients treated with dupilumab and/or methotrexate during the 7-year interval. Five of these patients received the combination measles, mumps, rubella, and varicella (MMRV) vaccine while on dupilumab and 4 while on methotrexate. Manual chart review was without evidence of adverse events for up to 6 months after immunization.

Conclusions: This retrospective search identified a small number of pediatric patients immunized with the live attenuated MMRV vaccine during concomitant treatment with dupilumab or methotrexate. No associated adverse events were identified. Further investigation is needed to establish the safety and efficacy of live vaccines in patients treated with these immunomodulating agents.

We report the case of a 3-year-old boy who was diagnosed with childhood pemphigus vulgaris having developed oral lesions, gastrointestinal symptoms with esophageal involvement, and failure to thrive. He had a markedly increased total serum IgE level and peripheral blood eosinophilia. The pemphigus was recalcitrant to conventional therapies and, based on the coexisting characteristics of Th2 immune deviation, he was treated with dupilumab and has had sustained clinical improvement since starting treatment. The case illustrates the importance of recognizing pemphigus vulgaris in childhood, considerations for dupilumab therapy, and a potential pathophysiological links between pemphigus autoantibodies in early life, Th2 inflammation, and atopic disorder.

This is the first report of pediatric linear scleroderma successfully treated with the topical Janus kinase (JAK) inhibitor delgocitinib. JAK inhibitors targeting the JAK/STAT pathway have been used to treat various immune-mediated diseases. In both in vitro and in vivo, JAK inhibitors also block the transforming growth factor (TGF)-β-mediated effects that contribute to skin sclerosis. In the present case, the histological findings of inflammation and fibrosis were considered as conditions that would benefit from the anti-inflammatory and antifibrotic effects of the JAK inhibitor, delgocitinib.

We describe a 1-day old female with features of keratitis-ichthyosis-deafness (KID) syndrome and natal teeth. Genetic analysis confirmed GJB2 263C and A88V de novo pathogenic variants consistent with KID syndrome. Natal teeth were promptly extracted to avoid the risk of aspiration. This review describes subsets of ichthyoses that have been reported in association with dental anomalies, highlighting the need for early dental referral and importance of long-term follow-up.

Atopic dermatitis (AD) and food allergies (FA) are closely linked manifestations of atopic disease, sharing immunological pathways that contribute to their chronicity and mutual exacerbation. However, the long-term impact of FA on AD remains incompletely understood. To address this knowledge gap, we analyzed 8015 children from the Pediatric Eczema Elective Registry (PEER), exploring the relationship between FA status as an exposure and AD control as an outcome at enrollment, as well as AD persistence as another outcome over 10 years. Our results indicate that at enrollment, children with any FA had significantly higher odds of having uncontrolled AD, and over the course of 10 years, they were more likely to experience persistent AD compared to those without any FA. These associations were particularly pronounced in subgroup analyses of milk, egg, and peanut allergies, highlighting the importance of recognizing FA as a significant prognostic factor in managing long-term AD outcomes in comorbid cases.