Faculty Bibliography

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/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.

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: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.

Eosinophilic pustular folliculitis (EPF) is a rare cutaneous disorder that typically occurs in three clinical contexts: men, individuals who are immunosuppressed or have human immunodeficiency virus, and infants. A fourth subtype occurring 2 to 3 months after hematopoietic stem cell transplantation (HSCT) has recently been described in several adults. We report two cases of EPF arising in children after HSCT. It is important to recognize this form of EPF after HSCT and differentiate it from graft-versus-host disease since it responds readily to topical steroids and appears to have an excellent prognosis.

Ticks are a well-known vector for viral, bacterial, and rickettsial infections, many of which are accompanied by cutaneous eruptions, but the bite itself can induce a spectrum of inflammatory reactions, including foreign body granuloma, tick bite alopecia, and cutaneous lymphoid hyperplasia. We describe the development of an indeterminate cell histiocytic infiltrate at the site of a tick bite. Although the etiology of intermediate cell histiocytosis is not well understood, this case raises the possibility that such infiltrates may represent an inflammatory reaction in some patients.

Objective: In this study, we assess the readability and suitability of eczema action plans (EAPs), which may impact their efficacy in patients of low literacy.1 Methods: This is a descriptive study of 27 EAPs used in the U.S. EAPs were volunteered by Society for Pediatric Dermatology members following an organization-wide recruitment e-mail. Outcomes included readability asmeasured by compositing Fleischer Reading Ease Score, Fleisch-Kincaid Grade, Gunning Fog, Simple Measure of Gobbledygook, and Forcast. Suitability was assessed through two physician raters using the Suitability Assessment of Materials (SAM), with a score >0.4 judged as adequate and <0.4 as unsuitable. Results: The mean reading grade level of the surveyed plans was 8.61 (range: 5.50-11.55). Only 20%of the studied plans fell at or below a 6th grade reading level, recommended for patient educational materials. The mean suitability score was 0.61 (range: 0.23- 0.83). Two EAPs (7%) received an unsuitable score. 93%of EAPs received an unsuitable score in at least one category, most commonly "Relevance of Illustrations" (89%), "Summary or Review Included" (41%), and "Subheadings or Chunking Used" (26%). Conclusions: Based on this nationwide sampling of eczema action plans, these documents are often formulated in a manner inappropriate for a general audience. Use of clear organization and an awareness of plain diction and imagery in eczema action plans could increase patient understanding of and adherence to their plans

Introduction: The development of recombinant human growth hormone (rhGH) has allowed for treatment of various growth disorders. Overall, rhGH is well tolerated but allergic skin reactions may occur to either rhGH itself or more commonly to preservatives like benzyl alcohol, m-cresol or phenol. In addition, nonallergic reactions such as exacerbation of preexisting skin disease has also been rarely reported. We report a case of a child with idiopathic short stature (ISS), developing skin rash after first dose of rhGH posing clinical dilemma of allergic reaction vs nonallergic exacerbation of preexisting skin conditions. Case Report: A 12 year old healthy Hispanic boy presented with short stature. His height was 141cm (-2.28SD), weight 46kg (+0.61SD) with growth velocity of 2 cm/year. He had a normal physical examination and lacked dysmorphic features. He was Tanner 2 for pubic hair with testicular volume of 8cc. Routine hemogram, liver, renal function tests and urinalysis were normal. Endocrine work up showed a normal FT4, TSH, IGF1 and IGFBP3. Bone age was 12 years with predicted adult height of 161cm (-2.2 SD) and midparental height of 165cm. GH stimulation test showed a peak of 17.8 ng/ml. An MRI of the brain was normal. His past medical history was pertinent for atopic dermatitis limited to the flexural creases and well controlled without the need of topical treatments. He had no known allergies. He was diagnosed to have ISS and rhGH (Saizen Serano) was started at 0.27 mg/kg/week (1.2 mg/day). He was given first dose in the right thigh at home. He developed a rash after 15 minutes that consisted of small, pruritic papules localized to chest and upper abdomen without a rash at the injection site. His pruritus subsided after application of hydrocortisone ointment and oral Benadryl. This rash gradually diminished and disappeared within 48 hrs. The rhGH was discontinued immediately because of concern of allergic reaction. Mild eosinophilia with normal serum levels of serum IgE and IgG was noted. Pediatric dermatologist consult revealed xerosis and pinpoint, skin colored papules felt to be consistent with exacerbation of mild follicular based atopic dermatitis. Hence, he was restarted rhGH and supervised for 5 hours. Patient did not develop a recurrence of this skin rash. This confirmed the reaction was not allergic in nature. Patient continues on rhGH for 4 months with improved growth velocity, without side effects. Conclusion: Though rare, allergic and nonallergic skin reactions are known to occur with rhGH. It is important to identify, if the reaction is due to growth hormone molecule itself or one of the preservatives. In addition, flare up of underlying skin disorders should also be considered during evaluation of skin rash during rhGH therapy