Faculty Bibliography

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.

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.

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.

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.

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.

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.

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.

Background: Netherton Syndrome (NS) is a genodermatosis that presents with icthyosiform erythroderma, atopic manifestations and hair abnormalities. It is autosomal recessive, caused by mutation in the SPINK5 gene, which encodes the lymphoepithelial Kazal-type-related inhibitor (LEKTI). Dysfunction of LEKTI leads to increased activity of serine proteases in the stratum corneum, including the Kallikreins (KLK5, KLK7 and KLK14) which are involved in desquamation and epidermal remodeling. Weakening of the skin's lipid permeability barrier in NS predisposes to avid absorption of topical medications such as steroids that can lead to exogenous Cushing Syndrome. Clinical Case: A 3 month old girl with congenital hydrocephalus, absent septum pellucidum and presumed seborrheic dermatitis treated with mid-potency topical 0.1% mometasone ointment for 2 weeks presented to the emergency department with emesis. Pediatric endocrinology consult for evaluation of central panhypopituitarism due to the known structural brain abnormalities revealed a random serum cortisol <0.2ug/dl, with normal LH, FSH, ACTH, TSH, IGF-1, and Prolactin. ACTH stimulation test with 125mg cosyntropin resulted in serum cortisol of hypothalamicpituitary- adrenal (HPA) axis suppression due to exogenous steroid use. Family history was significant for consanguinity, being parents first cousins, and similar skin lesions in the paternal aunt, uncle and first cousin. The Pediatric Dermatologist noted that the paternal aunt had icthyosis linearis circumflex and the hair shaft abnormality trichorrhexis invaginata, both pathognomonic findings of NS. On examination at 3 months, baby had normal growth (height 9th, weight 25th percentile) and cushingoid facies. She had severe erythema and seborrheic crusting involving the scalp, trunk and intertriginous creases with superimposed bacterial infection. A skin biopsy showed epidermal hyperplasia with scaling concerning for NS. Microscopic examination of sampled hair was normal however the hair shaft abnormalities of NS may not manifest until 1 year of age. Genetic testing for SPINK 5 mutation seen in NS is still pending. Result: 1. Skin lesions: The patient continued careful and cautious use of low potency topical steroids (2.5%Hydrocortisone ointment) intermittently, with improvement over 6 months. The baby continues to feed and grow well (height 22th, weight 20th percentile). 2. Suppression of HPA axis: Previously low serum cortisol showed some improvement over 6 months, (at 9 months Serum cortisol 3.9ug/dl,). The patient was advised to use stress doses of hydrocortisone when necessary. Conclusion: Patient's with NS have defective stratum corneum that increases absorption of even low potency topical steroids. Cautious use of topical steroids is advised in cases of NS as it may lead to suppression of HPA axis

BACKGROUND:Allergic and non-allergic skin reactions to recombinant human growth hormone (rhGH) are uncommon and infrequently reported. However, physicians should be aware of these potential side effects to determine whether the reactions constitute true allergies and how to proceed with growth hormone therapy. To review allergic and non-allergic skin reactions caused by rhGH and subsequent diagnostic workup and management options. CASE PRESENTATION/METHODS:We report the case of a 12-year-old healthy male presenting with idiopathic short stature. He developed an itchy skin rash over the chest and abdomen, 15 min after administration of the first dose of rhGH, leading us to review allergic and non-allergic skin reactions to rhGH. In our patient, an immediate skin reaction after administration of rhGH prompted a concern about a type I hypersensitivity reaction (HS) and the discontinuation of rhGH. However, after a dermatologic evaluation and observed administration of rhGH without subsequent rash, the initial eruption was likely an exacerbation of his underlying atopic dermatitis and a type I HS was felt to be unlikely. The rhGH was resumed and he has been on rhGH for the past 1 year with no recurrence of rash and with improvement in growth velocity. CONCLUSIONS:Though rare, allergic and non-allergic skin reactions are known to occur with rhGH. It is important to know if the allergic reaction was due to the growth hormone molecule or one of the preservatives. It is also important to consider a non-allergic reaction due to flare up of underlying skin disorders as in our patient.