Severe congenital ichthyosiform dermatosis in CHIME syndrome successfully treated with ixekizumab.

Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, conductive hearing loss, and epilepsy (CHIME) syndrome is a rare autosomal recessive neuroectodermal disorder caused by PIGL gene mutations. There is emerging literature to support the use of interleukin-17 (IL-17) antagonists in the treatment of certain ichthyosiform dermatoses. Here, we report a case of severe ichthyosiform dermatosis in a child with CHIME syndrome who was recalcitrant to multiple topical medications and dupilumab. This is the first reported case of successful treatment of congenital ichthyosiform dermatosis in a CHIME syndrome patient with ixekizumab, an IL-17A antagonist.

Closing the gap: Enhancing quality pediatric dermatologic care through project Extension for Community Healthcare Outcomes (ECHO).

This study focused on evaluating Extension for Community Healthcare Outcomes (ECHO) participating primary care clinician's (PCC's) diagnostic and treatment accuracy of pediatric dermatologic conditions. To evaluate this, pediatric cases presented to Dermatology ECHO by PCCs with questions regarding diagnosis, treatment regimen, or both were analyzed. After PCC case presentation, the hub team of dermatologists facilitated case-based discussion and provided the presenter with mentorship and guidance regarding diagnosis and treatment of their patient.

In-person validation of the Ichthyosis Scoring System.

BACKGROUND: Ichthyoses are a heterogeneous group of skin disorders characterized by scaling and erythema. Recognizing the variability of scale and erythema by region and ichthyosis subtype, we developed the Ichthyosis Scoring System (ISS) to quantify severity. We previously found ISS to have high inter- and intrarater reliability in evaluating photographic images. To confirm ISS clinical utility, we examined its performance at the 2022 Foundation for Ichthyosis and Related Skin Types conference. METHODS: Sixty-five participants were evaluated by 3 of 9 medical professionals trained to score ichthyosis scale and erythema using ISS. Intrarater and interrater intraclass correlation coefficients (ICC) were analyzed using one-way and two-way random effects models, respectively. RESULTS: Intrarater reliability was excellent (ICC = 0.931, 95% CI, 0.921-0.940) for scale and good (ICC = 0.876, 95% CI, 0.853-0.899) for erythema scoring. Compared to photo validation with excellent intrarater reliability ratings for both scale (ICC = 0.956, 95% CI, 0.925-0.974) and erythema (ICC = 0.913, 95% CI, 0.855-0.949), ISS demonstrated equivalent reliability for live use. Overall interrater reliability for 10 body sites showed excellent (ICC >0.9) and good (ICC >0.75) agreement and consistency for both scale and erythema. Palms were an exception, demonstrating moderate (ICC >0.5) interrater agreement and consistency for erythema evaluation. CONCLUSIONS: ISS is a reliable measure of global and regional ichthyosis severity during in-person evaluations. Ease-of-use, accessibility, and content validity in both live and photographic evaluation endorse ISS as a standard for ichthyosis severity analysis.

JAK Inhibitors: A New Weapon in the Skin Care Providers' Arsenal.

A number of chronic skin diseases, such as vitiligo and alopecia areata, are historically resistant to or respond poorly to treatment. Additionally, disorders such as atopic dermatitis and psoriasis have subtypes that are inadequately treated by current medications. Lastly, in the field of dermatology there are a number of conditions, some genetic (such as Darier's disease and Hailey-Hailey disease) and others caused by aberrant inflammatory responses (macrophage-driven conditions such as sarcoidosis and autoimmune conditions such as localized scleroderma) where effective treatments have been limited to date. A new class of anti-inflammatory medications that inhibit the Janus Kinase-Signal transducer and activator of transcription pathway (JAK-STAT) show great promise in providing new and effective treatment of these formerly recalcitrant conditions. This brief review will cover inhibitors of the JAK-STAT pathway (JAK inhibitors) currently approved for use in treating dermatologic diseases including several very recently approved medications. It will also touch on additional conditions under study or where early reports of efficacy are promising.

Leprosy (Hansen's disease): An Update and Review.

Leprosy (Hansen's disease) is caused by infection with bacilli of the Mycobacterium leprae complex. It is considered an exotic and rare diagnosis in Missouri. Past leprosy patients diagnosed locally have typically acquired it in areas of the world where leprosy is endemic. However, a recent case in a native Missourian that appears to be locally acquired suggests that leprosy may now be endemic in Missouri, possibly due to the expanded range of its zoonotic vector, the nine-banded armadillo. Health care providers in Missouri should be aware of how leprosy manifests and suspected cases referred to centers such as ours for evaluation and early institution of appropriate treatment.

Assessing and optimizing readability of dermatology patient education materials (PEMs).

Patient education materials (PEMs) are a powerful tool to improve patient understanding; however, inadequate health literacy is a well-established barrier for PEMs to serve their purpose. The average American reads at an 8th grade level and the National Institute of Health (NIH) recommendation for PEMs is at the 6th grade level. The purpose of this study was to assess and optimize PEMs to identify changes that are most effective at lowering the reading level without diluting its educational content. Edits that decrease the number of syllables per word were most effective at improving readability without diminishing educational content when compared to edits involving the total number of words.

Accelerating Care Through ECHO: Case Examples from the Field.

In this article, we describe three life-changing patient cases demonstrating high-quality and timely care they received in their communities, thanks to the Show-Me ECHO project. Early autism diagnosis, a potentially deadly tumor manifesting as a benign-looking rash, a recalcitrant case of hepatitis C: rural and underserved Missourians now have access to state-of-the-art care through their local providers receiving interdisciplinary telementoring on evidence based practices.

Efficacy and safety of prostate artery embolization for benign prostatic hyperplasia: an observational study and propensity-matched comparison with transurethral resection of the prostate (the UK-ROPE study).

OBJECTIVES: To assess the efficacy and safety of prostate artery embolization (PAE) for lower urinary tract symptoms (LUTS) secondary to benign prostatic hyperplasia (BPH) and to conduct an indirect comparison of PAE with transurethral resection of the prostate (TURP). PATIENTS AND METHODS: As a joint initiative between the British Society of Interventional Radiologists, the British Association of Urological Surgeons and the National Institute for Health and Care Excellence, we conducted the UK Register of Prostate Embolization (UK-ROPE) study, which recruited 305 patients across 17 UK urological/interventional radiology centres, 216 of whom underwent PAE and 89 of whom underwent TURP. The primary outcomes were International Prostate Symptom Score (IPSS) improvement in the PAE group at 12 months post-procedure, and complication data post-PAE. We also aimed to compare IPSS score improvements between the PAE and TURP groups, using non-inferiority analysis on propensity-score-matched patient pairs. The clinical results and urological measurements were performed at clinical sites. IPSS and other questionnaire-based results were mailed by patients directly to the trial unit managing the study. All data were uploaded centrally to the UK-ROPE study database. RESULTS: The results showed that PAE was clinically effective, producing a median 10-point IPSS improvement from baseline at 12 months post-procedure. PAE did not appear to be as effective as TURP, which produced a median 15-point IPSS score improvement at 12 months post-procedure. These findings are further supported by the propensity score analysis, in which we formed 65 closely matched pairs of patients who underwent PAE and patients who underwent TURP. In terms of IPSS and quality-of-life (QoL) improvement, there was no evidence of PAE being non-inferior to TURP. Patients in the PAE group had a statistically significant improvement in maximum urinary flow rate and prostate volume reduction at 12 months post-procedure. PAE had a reoperation rate of 5% before 12 months and 15% after 12 months (20% total rate), and a low complication rate. Of 216 patients, one had sepsis, one required a blood transfusion, four had local arterial dissection and four had a groin haematoma. Two patients had non-target embolization that presented as self-limiting penile ulcers. Additional patient-reported outcomes, pain levels and return to normal activities were very encouraging for PAE. Seventy-one percent of PAE cases were performed as outpatient or day cases. In contrast, 80% of TURP cases required at least 1 night of hospital stay, and the majority required 2 nights. CONCLUSION: Our results indicate that PAE provides a clinically and statistically significant improvement in symptoms and QoL, although some of these improvements were greater in the TURP arm. The safety profile and quicker return to normal activities may be seen as highly beneficial by patients considering PAE as an alternative treatment to TURP, with the concomitant advantages of reduced length of hospital stay and need for admission after PAE. PAE is an advanced embolization technique demanding a high level of expertise, and should be performed by experienced interventional radiologists who have been trained and proctored appropriately. The use of cone-beam computed tomography is encouraged to improve operator confidence and minimize non-target embolizations. The place of PAE in the care pathway is between that of drugs and surgery, allowing the clinician to tailor treatment to individual patients' symptoms, requirements and anatomical variation.

Computationally constructing a repository of compound remote associates test items in American English with comRAT-G.

The Remote Associates Test (RAT) has been used to measure creativity, however few repositories or standardizations of test items exist, like the normative data on 144 items provided by Bowden and Jung-Beeman. comRAT is a computational solver which has been used to solve the compound RAT in linguistic and visual forms, showing correlation to human performance over the normative data provided by Bowden and Jung-Beeman. This paper describes using a variant of comRAT, comRAT-G, to generate and construct a repository of compound RAT items for use in the cognitive psychology and cognitive modeling community. Around 17 million compound Remote Associates Test items are created from nouns alone, aiming to provide control over (i) frequency of occurrence of query items, (ii) answer items, (iii) the probability of coming up with an answer, (iv) keeping one or more query items constant and (v) keeping the answer constant. Queries produced by comRAT-G are evaluated in a study in comparison with queries from the normative dataset of Bowden and Jung-Beeman, showing that comRAT-G queries are similar to the established query set.

Uveitis Following Treatment of Verruca Vulgaris with Intralesional Candida Antigen.

This is a first literature report of a case of uveitis along with severe systemic symptoms following verruca vulgaris treatment with intralesional Candida antigen. We believe the Candida injection was causative.

Cornoid Lamella-Like Structures in HIV-Associated Epidermodysplasia Verruciformis: A Unique Histopathologic Finding.

Epidermodysplasia verruciformis (EV) is an uncommon inherited skin condition with increased vulnerability to widespread infection by certain human papillomavirus types, resulting in extensive verruca plana-like papules coalescing to large confluent plaques. Since the AIDS epidemic starting in the 1980s, an acquired type of EV has been described in patients infected with human immunodeficiency virus. The histopathologic features of EV consist of papillated epidermal hyperplasia with hypergranulosis and a distinct bluish-gray color in the large human papillomavirus-infected keratinocytes in the stratum granulosum. The authors present a case of HIV-associated EV with a unique histopathologic finding of multiple cornoid lamella-like structures. To the authors' knowledge, this finding has not been previously described in the literature.

Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa.

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare inherited skin disease characterized by defects in type VII collagen leading to a range of fibrotic pathologies resulting from skin fragility, aberrant wound healing, and altered dermal fibroblast physiology. Using a novel in vitro model of fibrosis based on endogenously produced extracellular matrix, we screened an FDA-approved compound library and identified antivirals as a class of drug not previously associated with anti-fibrotic action. Preclinical validation of our lead hit, daclatasvir, in a mouse model of RDEB demonstrated significant improvement in fibrosis as well as overall quality of life with increased survival, weight gain and activity, and a decrease in pruritus-induced hair loss. Immunohistochemical assessment of daclatasvir-treated RDEB mouse skin showed a reduction in fibrotic markers, which was supported by in vitro data demonstrating TGFß pathway targeting and a reduction of total collagen retained in the extracellular matrix. Our data support the clinical development of antivirals for the treatment of patients with RDEB and potentially other fibrotic diseases.

Care of the newborn with ichthyosis.

Mendelian disorders of cornification (ichthyosis; MeDOC) often present in the neonatal period with little warning to providers or parents. This report reviews the majority of ichthyoses with congenital findings. The neonatal presentation of many MeDOC often differs from the later phenotype because of the changes in the skin that occur with transition from an intrauterine to extrauterine environment. While differentiation of ichthyosis subtypes in the neonatal period is difficult, there are certain phenotypic groups within which these neonates fall, recognition of which can guide initial work up and treatment. For this report, these are categorized as: exuberant vernix; collodion baby/harlequin ichthyosis (HI); ichthyosiform erythroderma; blistering; and normal skin/xerosis phenotypes.

Acute generalized exanthematous pustulosis and Coombs-positive hemolytic anemia in a child following Loxosceles reclusa envenomation.

Previously reported cases of acute generalized exanthematous pustulosis secondary to brown recluse spider bite have been questioned due to lack of identification of the spider or because of the concomitant administration of antibiotics. We report a 9-year-old boy who arrived at the emergency department with a confirmed Loxosceles reclusa bite to the neck. On the third day of hospitalization, he developed hundreds of monomorphous, sterile pustules, initially in intertriginous areas. The eruption disseminated and was followed by pinpoint desquamation typical for acute generalized exanthematous pustulosis. During this he also developed late onset Coombs-positive hemolytic anemia and systemic loxoscelism. Sphingomyelinase in Loxosceles venom induces the production of interleukin-8 and granulocyte-macrophage colony-stimulating factor, cytokines involved in the pathogenesis of acute generalized exanthematous pustulosis, providing a mechanism by which Loxosceles reclusa bite may trigger acute generalized exanthematous pustulosis. We suggest that this case adds Loxosceles envenomation to the spectrum of agents that can trigger acute generalized exanthematous pustulosis.

Climate change and pediatric skin health.

Children are known to disproportionately bear the health impacts of climate change, particularly children living in impoverished areas. Owing to their developing physiology and immature metabolism, distinct exposure behaviors, and reliance on adults for care and protection, children are uniquely susceptible to the adverse effects of our warming planet. Herein, we summarize the known impacts of climate change on pediatric skin health, including its effects on atopic dermatitis, vector-borne and other infectious diseases, nutritional deficiencies, and psychodermatoses.

Utility of Dermatology Extension for Community Healthcare Outcomes (ECHO) sessions in the adult and paediatric population.

INTRODUCTION: Primary care provider (PCP) competency in dermatology is inadequate despite the high volume of patients with skin conditions. Better education and access to dermatology expertise is vital to improve patient care. We present a comprehensive case-based evaluation of Dermatology Extension for Community Healthcare Outcomes (ECHO) sessions, an innovative videoconferencing educational model, by determining the diagnostic and treatment accuracy of dermatological conditions by PCPs over a 2-year period. METHODS: This is a retrospective cross-sectional study evaluating the use and impact of Dermatology ECHO over a 2-year period. Outcomes assessed include patient demographics, PCPs' diagnostic accuracy, and expert treatment impact. Results were analysed using summary statistics and Pearson's chi-square test to describe the adult and paediatric populations. RESULTS: One hundred and sixty-seven adult cases and 56 paediatric cases were presented in 2016-2017. Among the 223 cases, 137 adult and 44 paediatric cases were complete and eligible for analysis. The mean lesion duration was 3.3 years in adults and 2.9 years in children prior to presentation. Upon case presentation, almost half (43.8%) of the adult cases were incorrectly diagnosed by their PCP with 18.8% receiving a partially correct diagnosis. PCPs had greater diagnostic accuracy in children (45% correct diagnosis, 27.5% partially correct, 27.5% incorrect). Expert treatment recommendations benefited 83.6% of adult cases and 72.5% of paediatric cases. DISCUSSION: This study highlights the need for better dermatology access and teaching opportunities among PCPs in Missouri. Dermatology ECHO provides a platform for didactic learning and case presentations to improve dermatology competency among PCPs.

Genodermatoses with malignant potential.

The hereditary nature of some forms of cancer was recognized long ago. Over time, recognition of associated findings led to the delineation of numerous hereditary cancer syndromes. Many of these syndromes also have cutaneous manifestations, the recognition of which can lead to their early identification. Recognition of these syndromes allows vigilant surveillance and preemptive treatment, which can dramatically impact the risks of morbidity and mortality for affected patients. The rise of rapid and accurate genetic testing now allows the early identification of asymptomatic at risk family members so that monitoring can be initiated as early as possible. The dermatologist plays a critical role in early identification of these syndromes and, in many cases, their treatment. This review summarizes many known hereditary cancer syndromes with cutaneous findings, their etiology, identification, evaluation, and management. Importantly, this is an ever evolving topic and new findings and syndromes will continue to be recognized. The dermatologist must be always alert to ensure they are detected.

Cutaneous Drug Eruptions in Pediatrics-A Primer.

Cutaneous adverse drug reactions (ADRs) are commonly seen in the pediatric population in both inpatient and outpatient settings and are important to identify, evaluate, and appropriately manage. Early recognition and proper classification of a cutaneous drug reaction allows the clinician the ability to narrow in on a culprit drug and determine whether the medication is safe to continue. This review discusses the clinical presentation, categorization, and management of cutaneous ADRs in the pediatric population. [Pediatr Ann. 2020;49(3):e132-e139.].