Faculty Bibliography

Background/Purpose : DLE is a rare, disfiguring disorder in children. Small retrospective studies suggest 20-25% of patients progress to SLE. Progression risk factors are poorly understood, but DLE has been associated with delay in SLE diagnosis and reduced access to care. This multicenter retrospective cohort study aimed to describe baseline characteristics and clinical phenotypes of pediatric DLE patients at diagnosis. Methods : Medical records at eighteen sites were reviewed for pediatric dermatology and rheumatology patients with DLE. For inclusion, patients required clinical and/or histopathologic findings consistent with DLE. Baseline data were collected at the first documented visit including sociodemographic data, ACR/SLICC SLE criteria (i.e. DLE+SLE), date of DLE onset/diagnosis, DLE distribution, family history, comorbidities, and treatment. Outcome variables included ACR (primary outcome) /SLICC SLE criteria. Rates of progression from skin-limited DLE (DLE) to SLE (DLE+SLE) were evaluated. Analysis included descriptive statistics, chi-square and Wilcoxon tests. Results : Out of >1,000 patients reviewed, 441 met inclusion criteria. The cohort was predominantly female (72%) and racially/ethnically diverse (Table 1). A minority presented at baseline with SLE based on ACR and SLICC criteria, respectively (n=165, 37%; n=183, 42%). DLE+SLE patients were older (median 13.7y vs 10.2y) with shorter time from DLE onset to diagnosis (median 2 mo vs 7 mo), compared to DLE patients (p< 0.001). DLE patients presented with low incidence of renal involvement, serositis, seizures or psychosis (p< 0.001, Table 2). DLE+SLE patients had more positive serologies and higher-titer ANAs (p< 0.001, Table 3), although 5% were ANA negative. Among 231 DLE patients with31 follow up visit, median follow-up was 2.7 y (range 0-13.9y) with 747 total subject-years. Progression to SLE occurred in 20% and 25% of patients based on ACR and SLICC criteria, respectively. Conclusion : To date, this is the largest investigation of pediatric DLE. Patients with DLE+SLE were most likely to present in adolescence with abnormal serologies and end-organ disease. Progression of DLE to SLE occurred at rates consistent with previous literature. All patients with DLE require SLE surveillance at diagnosis and regular follow-up, particularly during adolescence. Limitations include the retrospective study design with potential for misclassification, and analysis restricted to the baseline visit. Further analysis of follow up visits will evaluate for baseline risk factors and biomarkers of evolving SLE, as well as timing of progression, identifying DLE patients at highest risk for systemic disease

Well-known causes of zinc deficiency, also referred to as acrodermatitis enteropathica (AE), include defects in intestinal zinc transporters and inadequate intake, but a rare cause of acquired zinc deficiency discussed here is an iatrogenic nutritional deficiency caused by parenteral nutrition administered without trace elements. While zinc-depleted parenteral nutrition causing dermatosis of acquired zinc deficiency was first reported in the 1990s, it is now again relevant due to a national vitamin and trace element shortage. A high index of suspicion may be necessary to diagnose zinc deficiency, particularly because early clinical findings are nonspecific. We present this case of acquired zinc deficiency in a patient admitted to a pediatric intensive care unit for respiratory distress and atypical pneumonia, who subsequently developed a severe bullous eruption due to iatrogenic zinc deficiency but was treated effectively with enteral and parenteral zinc supplementation, allowing for rapid re-epithelialization of previously denuded skin.

Rationale: RAS genes are well-established oncogenes known to contribute to the development of cancer. Epidermal, sebaceous, and melanocytic nevi may be triggered by somatic mutations in HRAS, KRAS, and NRAS. The majority of these nevi are not associated with internal malignancies, however, a small subset have been associated with rhabdomyosarcoma (RMS). This calls into question the clinical utility of the anatomic location of the nevi for cancer risk stratification and management. Method(s): A retrospective review showed 12 previously reported cases of RAS-driven nevi in conjunction with RMS. 3 additional unreported cases were collected from collaborators through the Pediatric Dermatology Research Alliance (PeDRA). Result(s): 15 patients with 16 primary RMS were included for analysis. 12/15 were previously reported.^1-12 All had RAS-driven birthmarks: 5 patients with epidermal nevi, 4 with congenital melanocytic nevi, 4 with phacomatosis pigmentokeratotica, and 2 with speckled lentiginous nevi/agminated Spitz. Of the 16 RMS: 8 were genitourinary, 3 were pelvic/retroperitoneal, 4 were dermal, and 1 was abdominal. 5/15 tumor-birthmark pairs had genotyping results: 3 had HRAS mutations and 2 had KRAS mutations. Body surface area did not seem to be a contributing risk factor. However, all 15 cases had involvement of the nevus on the trunk. Relevance: Truncal location of mosaic RASopathies may be a risk factor for RMS. Further prospective studies are needed to solidify appropriate monitoring guidelines for patients at risk.

Vogt-Koyanagi-Harada (VKH) disease is uncommon in the pediatric population and can have an aggressive course with serious visual sequelae. A 12-year-old Han Chinese American female, who presented with mild headaches and panuveitis with diffuse serous retinal detachments, was diagnosed with VKH. Despite treatment with a combination of high-dose systemic corticosteroids, intravitreal triamcinolone injection, and mycophenolate mofetil, ocular inflammation was inadequately controlled. Addition of adalimumab allowed for inflammation remission, improvement of vision, and tapering of systemic corticosteroids. Escalation of immunosuppression until remission appears to be critical in this population. Further research is needed to understand the complex pathophysiology of VKH and investigation for similar efficacy of other anti-tumor necrosis factor-alpha agents will need to be performed.

We report a case of Escherichia coli infection of a cephalohematoma in an infant delivered by vacuum extraction. After excluding potential complications, the patient was treated with intravenous ceftriaxone while hospitalized followed by oral cephalexin after discharge. Infection is a rare but serious complication of cephalohematomas in the newborn period. Escherichia coli is the most common pathogen responsible for infected cephalohematomas. Clinicians should be aware that infected cephalohematomas may be complicated by sepsis, meningitis, or osteomyelitis.

BACKGROUND/OBJECTIVES/OBJECTIVE:Little is known about the reading grade level (readability), appropriateness of design (suitability), and content variability of written eczema action plans (EAPs), which can impact the effectiveness of these patient education tools. Here, we assess the readability, suitability, and content of EAPs currently used by pediatric dermatologists in the United States. METHODS:This was a cross-sectional study of EAPs submitted by members of the Society for Pediatric Dermatology (n = 26). Readability, suitability, and content of sampled plans were systematically assessed. RESULTS:Mean (SD) reading grade level was 9.0 (2.1); one in five was written at the recommended level of 6th grade or lower. While the majority of EAPs were found to be adequately suitable, one in five was unsuitable and only two superior. Documents scored most poorly in layout/design and learning stimulation. Plans scored best in the categories of content and literacy demand. EAPs focused on similar content themes, though specific recommendations and descriptors of atopic dermatitis (AD) disease states varied considerably. CONCLUSIONS:The health literacy burden of EAPs in the United States could be lowered by improving their readability, incorporating graphics, stimulating reader engagement, and developing standards for how AD flares are defined.

Eczema action plans (EAPs) are written, customizable documents that guide patients through the self-management of atopic dermatitis. Here, we distributed a survey regarding the use patterns and perceptions of eczema action plans to 1068 members of the Society for Pediatric Dermatology and received 87 responses. Although a strong majority of respondents endorsed the ability of EAPs to improve adherence (79%) and improve prevention and/or management of flares (70%), reported rates of EAP editing or provision sharply decline from initial to follow-up visits (61%-33%). The development of a standardized, low-literacy web-based tool could improve the efficacy of EAPs for patients and physicians by improving comprehensibility and retention.

PURPOSE/OBJECTIVE:Washing and over-the-counter cleansers are common interventions in acne vulgaris (AV), but the clinical evidence for their benefit is poorly understood. This systematic review presents clinical studies of washing and cleanser efficacy in acne vulgaris to guide treatment recommendations of dermatologists. MATERIALS AND METHODS/METHODS:We surveyed English-language articles indexed in MEDLINE (1951-March 2017) and EMBASE (1974-March 2017). Articles were required to be prospective studies of a single over-the-counter cleanser or washing intervention in AV with an objective AV outcome measurement published in a peer-reviewed journal. RESULTS AND CONCLUSIONS/CONCLUSIONS:Fourteen prospective studies representing 671 participants were included in this review. Modalities investigated included face washing frequency, true soap/syndet cleansing bars, antiseptic cleansers, alpha and beta-hydroxy (i.e. salicylic) acid cleansers, and several proprietary formulations. Given the low number of well-performed clinical studies of cleansers and washing, it is difficult to formulate reliable recommendations. We hope that our findings highlight the necessity of further investigation in this area.

BACKGROUND/OBJECTIVES/OBJECTIVE:Congenital juvenile xanthogranulomas are infrequently described in the medical literature. We report three previously unpublished cases and systematically review the literature to better characterize this variant. METHODS:We surveyed English-language articles indexed in MEDLINE (1951-March 2017) and EMBASE (1974-March 2017) for cases of congenital-onset juvenile xanthogranulomas confirmed on histopathology. Cases were divided into two categories: cutaneous only or cutaneous with systemic involvement. RESULTS:We identified 31 cases of congenital juvenile xanthogranulomas involving only the skin and 16 cases with systemic involvement. Congenital juvenile xanthogranulomas involving only the skin were large (> 3 cm), presented with various clinical morphologies, and showed signs of regression by 1 year of age. Atypical clinical presentations included exophytic tumors, infiltrative plaques, agminated plaques, and subcutaneous tumors. Complications included ulceration and anetodermic scarring. Infants with congenital cutaneous juvenile xanthogranulomas who also had systemic involvement typically had multiple cutaneous tumors and hepatic involvement and showed signs of spontaneous regression independent of treatment. CONCLUSIONS:The medical literature supports that congenital juvenile xanthogranulomas behave in a fashion similar to that of juvenile xanthogranulomas of infancy or childhood. Congenital cutaneous juvenile xanthogranulomas with or without systemic involvement spontaneously regress. The varied clinical presentations in the skin may lead to misdiagnosis, inappropriate examination, and unnecessary treatments. Infants with multiple congenital cutaneous juvenile xanthogranulomas should be evaluated for systemic involvement, with a particular focus on the liver, because 72.2% of these children were found to have hepatic juvenile xanthogranulomas.

This report describes a case of chronic neutrophilic urticarial dermatosis as a presenting feature of systemic juvenile idiopathic arthritis. When encountered in children, neutrophilic urticarial dermatosis should raise suspicion of autoimmune or autoinflammatory disease.