Pediatric Dermatology最新文献

Elexacaftor/tezacaftor/ivacaftor is a novel "triple therapy" drug which has been shown in clinical trials to reduce morbidity and mortality in cystic fibrosis patients. Few reports of serious cutaneous adverse reactions to elexacaftor/tezacaftor/ivacaftor leading to drug discontinuation have been previously documented, all occurring within 1 month of drug initiation. Herein we present a novel case of delayed bullous drug eruption, arising 2 years after elexacaftor/tezacaftor/ivacaftor initiation, with subsequent successful drug re-introduction. Documentation of the possible serious cutaneous adverse effects of elexacaftor/tezacaftor/ivacaftor will importantly aid understanding of the potential for drug re-challenge in these cases.

Hidradenitis suppurativa (HS) is an inflammatory skin condition increasingly diagnosed in pediatric populations; however, data on treatment practices in this group remains limited. In this retrospective study of 163 patients diagnosed with HS ≤ 18 years of age, we found that treatment patterns varied significantly by disease severity. As compared to patients with Hurley stage I (HSI) disease, those with Hurley stage III (HSIII) were more likely to receive: biologics (11.8% versus 58.3%, p < 0.001), chlorhexidine (47.1% versus 75.0%, p = 0.009), intralesional steroid injections (20.0% versus 58.3%, p < 0.001), metformin (3.53% versus 22.2%, p = 0.006), oral steroids (0%, versus 19.4%, p < 0.001), and spironolactone (10.6% versus 38.9%, p = 0.001). Higher Hurley stage was also associated with higher odds of receiving pain management prescriptions (NSAIDs [10.6% HSI versus 26.2% Hurley stage II (HSII) versus 52.8% HSIII; p < 0.001] and opioids [3.6% HSI versus 9.3% HSII versus 31.0% HSIII; p < 0.001]).

Cutaneous graft-versus-host disease (GVHD) is a significant complication of allogeneic hematopoietic stem cell transplantation (allo-HSCT). This review offers a clinically focused update on the diagnosis and management of acute and chronic cutaneous GVHD in pediatric patients. We highlight recent advances in clinical classification systems and therapeutic options, including newly FDA-approved treatments for steroid-refractory disease. Given the risk of long-term morbidity, multidisciplinary care and consistent dermatologic follow-up are essential. Future research should focus on pediatric-specific diagnosis and treatment to address age-specific presentation, drug response, and safety, as well as the potential of less immunosuppressive therapies for select cutaneous GVHD phenotypes.

Entomophthoromycosis is a rare skin and subcutaneous fungal infection predominantly common in the tropical regions with diagnostic challenges in the pediatric population. Herein, we report a case of a 2-year-old boy with an asymptomatic slowly progressive unilateral swelling of the face and upper chest over a 9-month period who presented to us with atypical shiny dome-shaped, hard swelling with loss of skin pinchability and cervical lymphadenopathy. Fine needle aspiration cytology from one of the lymph nodes demonstrated necrotizing granulomatous inflammation and histology from one of the swellings over the chest revealed necrotizing granuloma in the dermis, multinucleated giant cells, intracytoplasmic hyphae, and positive PAS staining. Subsequently, he was started on a supersaturated solution of potassium iodide and Itraconazole following which there was complete resolution.

Background: Dermatofibrosarcoma protuberans (DFSP) is a rare and locally aggressive cutaneous sarcoma. Surgical excision remains first-line therapy, including for pediatric patients. However, given the rarity of DFSP, specific treatment recommendations for children have not been well defined. To inform pediatric-specific management, we analyzed outcomes in a retrospective cohort of pediatric DFSP patients treated with wide local excision (WLE).

Methods: A single-center retrospective review of clinical records from 2004 through 2024 was conducted evaluating patients < 20 years of age who were diagnosed with DFSP and underwent treatment with WLE. Patients were divided into two groups based on treatment with relatively narrow (< 2 cm) or standard margins (≥ 2 cm). Descriptive analyses were performed.

Results: A total of 17 pediatric DFSP patients underwent WLE. The mean surgical margin was 1.76 ± 0.54 cm, and 14 of 16 evaluable patients (87.5%) were treated with margins of 2 cm or less. Complete excision after one surgery was achieved in 76.5% of patients. No patients experienced local or distant recurrence, and none required adjuvant therapy. Interestingly, 64.7% (11/17) had documentation describing the lesion being first noted at or around the time of birth. For patients with over 60 months of follow-up, the 5-year recurrence-free survival, disease-specific survival, and overall survival were all 100%.

Conclusions: When appropriately selected and performed, WLE with a 1-2 cm initial margin, followed by re-excision when needed to achieve clear margins, does not compromise survival or risk of recurrence and may be considered an effective treatment option in pediatric DFSP.

Background: Eosinophilic pustular folliculitis (EPF) is a rare, noninfectious eosinophilic inflammatory disease that manifests with papulopustular lesions. Although EPF is not a severe skin disorder, it is recurring and causes uncomfortable symptoms, such as itching, that impact the patient's quality of life.

Methods: The Embase, PubMed, Web of Science, and Cochrane databases were systematically searched for studies on children with EPF up to May 2025. The study was performed according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A restricted maximum likelihood (REML) random-effects model was performed for all endpoints to synthesize results with a 95% confidence interval (CI). Cochran's Q test and I² were used to assess heterogeneity. R version 4.2.2 was used for statistical analysis.

Results: 52 studies comprising 136 patients with EPF were included. The analysis showed a mean age of 11.16 months (95% CI: 5.11-17.22) and a male predominance of 80.58% (95% CI: 71.60-88.20). Scalp lesions were the most common site with a rate of 92.10% (95% CI: 71.25-100.00). The most common treatment included topical hydrocortisone at 1.48% (95% CI: 0.00-8.51), corticoid not identified (NI) at 2.00% (95% CI: 0.00-9.42), and others at 6.17% (95% CI: 0.00-24.16).

Conclusions: This systematic review and meta-analysis showed that EPF in childhood primarily affects male patients, with patient ages ranging from 0.03 to 192 months. The lesion's most frequent location is the scalp. Corticosteroids were identified as the primary treatment strategy.

Research has increasingly shown the importance of social drivers of health (SDH) and adverse childhood experiences (ACEs) in dermatologic health outcomes, and as such, highlighted the role of physicians in identifying and addressing these in their practice. Children are a unique population as they face special barriers to care due to their relative inability to advocate for themselves and their increased likelihood of experiencing poverty, food insecurity, and housing insecurity in the United States. Additionally, ACEs have been shown to confer a greater risk of chronic conditions and a decreased life expectancy. Part I summarized the ways in which SDH and ACEs impact outcomes for patients with common pediatric skin conditions such as atopic dermatitis, psoriasis, hidradenitis suppurativa, and acne vulgaris. However, the role of pediatric dermatologists is not limited to the awareness of the SDH and ACEs that may impact patients, but instead, involves the ability to identify these social risks through screening and address them in the context of patients' lives. In this review, we provide suggestions for understanding barriers to care and conducting SDH and ACEs screening in the clinic. We also review ways to reduce barriers to care by developing cost-conscious treatment plans, utilizing telehealth platforms, addressing low health literacy, mitigating language barriers, and incorporating SDH management into medical billing. Finally, we discuss educational initiatives that may impact our ability as a specialty to identify and address SDH.

Background: Epidermolysis bullosa dystrophica (EBD) is characterized by mucocutaneous fragility with blistering, scarring and severe growth retardation attributed to many factors.

Methods: This cross-sectional study included 51 patients aged 1-12 years with recessive dystrophic EB (RDEB). Weight and height were measured, with the calculation of weight standard deviation (SD), height SD, and body mass index (BMI), followed by plotting them on Egyptian growth curves. Serum levels of basal growth hormone (GH), insulin-like growth factor 1 (IGF-1), hemoglobin (Hb) level, erythrocyte sedimentation rate (ESR), and thyroid functions (TSH and free T4) were measured. Growth hormone stimulation test was performed in 11 patients.

Results: Weight SD and height SD were lower than normal measurements (p < 0.05*). Growth hormone, growth hormone stimulation, and IGF-1 were lower than the normal range (p < 0.05*). Hb levels were lower than normal, whereas ESR levels were elevated (p < 0.001*). A negative correlation was found between ESR and basal GH, and a positive correlation between ESR and IGF-1.

Conclusion: Children with generalized RDEB have poor growth and low circulating GH and IGF-1 levels, likely due not only to malnutrition and anemia, but possibly also as a consequence of inflammation that suppresses the GH/IGF-1 axis. Future treatments targeting the correction of GH and IGF-1 levels as well as the chronic inflammatory state should be considered.

Trial registration: ClinicalTrials.gov identifier: NCT05390073.

Alpha-1 antitrypsin deficiency (A1ATD) is a rare genetic disorder with variable clinical presentations. We report a case of a term infant who presented with recurrent subcutaneous nodules and elevated liver enzymes, ultimately diagnosed with homozygous Z allele variants in the SERPINA1 gene. Histology showed a fibrous reparative process, rather than classic panniculitis, highlighting an atypical presentation. This case underscores the importance of considering A1ATD in the differential diagnosis of neonatal cutaneous lesions.