Safety of dupilumab in a 5-month-old infant with severe atopic dermatitis.

Dupilumab is a fully humanized monoclonal antibody that suppresses Th2-mediated inflammation by inhibiting signaling of interleukin-4 and interleukin-13 through the interleukin-4 alpha receptor subunit, and is approved by the FDA for the treatment of moderate to severe atopic dermatitis (AD) in children 6 years of age and older. While initial data from phase 2 trials in children less than 6 years are promising, dupilumab use in children less than 6 months of age is not well studied. Here we present a case of a 5-month-old boy with severe primary AD, eosinophilia, hypogammaglobulinemia, and poor weight gain, who was successfully treated with dupilumab and experienced no serious adverse effects. To our knowledge, this is the youngest patient to receive dupilumab to date.

New-onset head and neck dermatitis in adolescent patients after dupilumab therapy for atopic dermatitis.

BACKGROUND/OBJECTIVES: Head and neck dermatitis after dupilumab therapy for atopic dermatitis has been frequently reported in adults and only rarely in adolescents. No cases detailing disease course and treatment response have previously been described in adolescents. METHODS/RESULTS: This case series presents five adolescent patients who developed new-onset or worsening head and neck dermatitis after dupilumab therapy for atopic dermatitis. All five patients improved after oral antifungal therapy. CONCLUSIONS: The clinical features, treatment response, and potential disease pathogenesis in pediatric patients are described. Adolescents with new-onset head and neck dermatitis after dupilumab therapy may clinically improve with antifungal therapy, suggesting that Malassezia species may be a contributing factor or antifungal therapy may be an effective antiinflammatory agent.

Surgical treatment for recurrent shoulder instability: factors influencing surgeon decision making.

BACKGROUND: The optimal surgical approach for recurrent anterior shoulder instability remains controversial, particularly in the face of glenoid and/or humeral bone loss. The purpose of this study was to use a contingent-behavior questionnaire (CBQ) to determine which factors drive surgeons to perform bony procedures over soft tissue procedures to address recurrent anterior shoulder instability. METHODS: A CBQ survey presented each respondent with 32 clinical vignettes of recurrent shoulder instability that contained 8 patient factors. The factors included (1) age, (2) sex, (3) hand dominance, (4) number of previous dislocations, (5) activity level, (6) generalized laxity, (7) glenoid bone loss, and (8) glenoid track. The survey was distributed to fellowship-trained surgeons in shoulder/elbow or sports medicine. Respondents were asked to recommend either a soft tissue or bone-based procedure, then specifically recommend a type of procedure. Responses were analyzed using a multinomial-logit regression model that quantified the relative importance of the patient characteristics in choosing bony procedures. RESULTS: Seventy orthopedic surgeons completed the survey, 33 were shoulder/elbow fellowship trained and 37 were sports medicine fellowship trained; 52% were in clinical practice ≥10 years and 48% <10 years; and 95% reported that the shoulder surgery made up at least 25% of their practice. There were 53% from private practice, 33% from academic medicine, and 14% in government settings. Amount of glenoid bone loss was the single most important factor driving surgeons to perform bony procedures over soft tissue procedures, followed by the patient age (19-25 years) and the patient activity level. The number of prior dislocations and glenoid track status did not have a strong influence on respondents' decision making. Twenty-one percent glenoid bone loss was the threshold of bone loss that influenced decision toward a bony procedure. If surgeons performed 10 or more open procedures per year, they were more likely to perform a bony procedure. CONCLUSION: The factors that drove surgeons to choose bony procedures were the amount of glenoid bone loss with the threshold at 21%, patient age, and their activity demands. Surprisingly, glenoid track status and the number of previous dislocations did not strongly influence surgical treatment decisions. Ten open shoulder procedures a year seems to provide a level of comfort to recommend bony treatment for shoulder instability.

Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm.

Nevus comedonicus syndrome (NCS) is a rare epidermal nevus syndrome characterized by ocular, skeletal, and central nervous system anomalies. We present a 23-month-old boy with a history of a congenital pulmonary airway malformation (CPAM) of the lung and a congenital cataract who developed progressive linear and curvilinear plaques of dilated follicular openings with keratin plugs (comedones) on parts of his scalp, face, and body consistent with nevus comedonicus. MRI of the brain demonstrated an aneurysm of the right internal carotid artery. Genetic testing identified NEK9 c.1755_1757del (p.Thr586del) at mean allele frequency of 28% in the nevus comedonicus. This same mutation was present in the CPAM tissue. This is the first case of a CPAM in a patient with an epidermal nevus syndrome. This case expands the phenotype of nevus comedonicus syndrome to include CPAM and vascular anomalies.

Implementation of a pediatric provider-to-provider store-and-forward teledermatology system: Effectiveness, feasibility, and acceptability in a pilot study.

BACKGROUND/OBJECTIVES: Long wait times for in-person appointments in pediatric dermatology can lead to delays in specialty care, additional health system touchpoints, patient and family dissatisfaction, poorer outcomes, and increased overall health care costs. Store-and-forward teledermatology may address these challenges and improve access to care in pediatric dermatology. METHODS: We describe a prospective, non-blinded cohort study with follow-up surveys conducted from March 1, 2018, to September 20, 2018. The study was conducted at a single center, in primary care and specialist settings. Patients included were <18 years old and received care at one of our affiliated primary care sites. Primary care providers submitted teledermatology consultations through a shared electronic medical record. A board-certified pediatric dermatologist evaluated each consultation; primary care providers conveyed recommendations to families. RESULTS: Forty-three consultations for patients (23 male, 20 female; median age: 7 years [IQR: 2.4-12]) were entered by primary care providers. Median time from consult request to dermatologist initiating consult was 12.1 hours [IQR: 1.9-18.8]; median time to complete consult note was 7 minutes [IQR: 5-10.5]. Median time from primary care provider initially consulting to conveying teledermatology recommendations to families was 3 days [IQR: 1-5]. All but one consult (42/43, 98%) were completed in the intended workflow. Follow-up in-person visits with pediatric dermatologists occurred with 10/43 (23%) patients. In follow-up surveys, parents were 83% likely to recommend the service to family and friends. All primary care providers and dermatologists felt the service improved quality of care. CONCLUSIONS: Provider-to-provider teledermatology consultation appears to be a feasible and acceptable method of providing care quickly and effectively to pediatric patients.

Cutaneous manifestations of congenital malignant rhabdoid tumor: Unusual papillomatous plaques and other skin presentations.

BACKGROUND/OBJECTIVES: Malignant rhabdoid tumors (MRT) are highly aggressive tumors with a predilection for the kidney, central nervous system, and soft tissues that usually affect young children under three years of age. Primary presentation in the skin is rarely reported, and features of the cutaneous manifestations are not well described. We report six cases of metastatic MRT that first manifested with congenital nodules and masses in the skin. METHODS: Retrospective case series. RESULTS: The cutaneous presentation of MRT may be heterogeneous and can present with solitary or multifocal skin lesions. Congenital polypoidal and papillomatous plaques, including those with histologic features of neurovascular hamartoma, appear to be a unique presentation of MRT in the infant. CONCLUSIONS: Malignant rhabdoid tumor should be considered in the differential diagnosis of unusual skin tumors in neonates and infants.

Systemic immunosuppressive therapy for inflammatory skin diseases in children: Expert consensus-based guidance for clinical decision-making during the COVID-19 pandemic.

BACKGROUND/OBJECTIVES: The COVID-19 pandemic has raised questions about the approach to management of systemic immunosuppressive therapies for dermatologic indications in children. Change to: Given the absence of data to address concerns related to SARS-CoV-2 infection and systemic immunosuppressive therapies in an evidence-based manner, a Pediatric Dermatology COVID-19 Response Task Force (PDCRTF) was assembled to offer time-sensitive guidance for clinicians. METHODS: A survey was distributed to an expert panel of 37 pediatric dermatologists on the PDCRTF to assess expert opinion and current practice related to three primary domains of systemic therapy: initiation, continuation, and laboratory monitoring. RESULTS: Nearly all respondents (97%) reported that the COVID-19 pandemic had impacted their decision to initiate immunosuppressive medications. The majority of pediatric dermatologists (87%) reported that they were pausing or reducing the frequency of laboratory monitoring for certain immunosuppressive medications. In asymptomatic patients, continuing therapy was the most popular choice across all medications queried. The majority agreed that patients on immunosuppressive medications who have a household exposure to COVID-19 or test positive for new infection should temporarily discontinue systemic and biologic medications, with the exception of systemic steroids, which may require tapering. CONCLUSIONS: The ultimate decision regarding initiation, continuation, and laboratory monitoring of immunosuppressive therapy during the pandemic requires careful deliberation, consideration of the little evidence available, and discussion with families. Consideration of an individual's adherence to COVID-19 preventive measures, risk of exposure, and the potential severity if infected must be weighed against the dermatological disease, medication, and risks to the patient of tapering or discontinuing therapies.

Wait times, health care touchpoints, and nonattendance in an academic pediatric dermatology clinic.

BACKGROUND AND OBJECTIVES: Timely access to pediatric dermatology care remains a challenge. While awaiting appointments, many patients and families utilize so-called health care touchpoints outside of the dermatology clinic such as primary care or emergency department visits to address dermatologic concerns. Long waiting periods also factor into nonattendance rates at pediatric dermatology appointments. This observational retrospective study investigated wait times, relevant health care touchpoints, and factors related to nonattendance at a pediatric dermatology clinic. METHODS: We reviewed demographic, health care touchpoint, and nonattendance data for patients referred by a primary care affiliate to the Children's Hospital of Philadelphia (CHOP) pediatric dermatology clinic from February 2016 to May 2017. Descriptive statistics were used to identify trends among analyzed variables. RESULTS: We reviewed 250 patient records. The average number of touchpoints per patient was 0.56, and factors that significantly correlated with increased numbers of touchpoints included younger patient age and longer wait time while payer, primary diagnosis, and time of year were not associated. The nonattendance rate was 26%, and factors significantly associated with increased nonattendance rate included longer wait times and winter and spring appointments. CONCLUSION: Long wait times impact numbers of touchpoints and appointment attendance rate when referring to pediatric dermatology. A platform such as teledermatology may represent an opportunity to improve access to care by allowing for earlier input from the pediatric dermatologist.

Mathematical model of gender bias and homophily in professional hierarchies.

Women have become better represented in business, academia, and government over time, yet a dearth of women at the highest levels of leadership remains. Sociologists have attributed the leaky progression of women through professional hierarchies to various cultural and psychological factors, such as self-segregation and bias. Here, we present a minimal mathematical model that reveals the relative role that bias and homophily (self-seeking) may play in the ascension of women through professional hierarchies. Unlike previous models, our novel model predicts that gender parity is not inevitable, and deliberate intervention may be required to achieve gender balance in several fields. To validate the model, we analyze a new database of gender fractionation over time for 16 professional hierarchies. We quantify the degree of homophily and bias in each professional hierarchy, and we propose specific interventions to achieve gender parity more quickly.

Reasons for not completing postvasectomy semen analysis.

OBJECTIVE: To identify noncompliance rates for 3-month postvasectomy semen analysis (PVSA) in men who have undergone vasectomy and to explore the self-reported reasons for not completing the 3-month PVSA. DESIGN: Retrospective chart review followed by semistructured telephone interviews. SETTING: Two family medicine clinics in Saskatoon, Sask. PARTICIPANTS: Men from the clinics who had undergone vasectomy since 2009. A total of 99 patients completed telephone interviews. METHODS: After a review of electronic medical records at 2 family medicine clinics, patients who had undergone vasectomy since 2009 were identified. Upon review of their charts, the number of patients who did not have PVSA results on file was determined. Some of these men were contacted with a predetermined telephone script to discuss reasons for noncompliance. MAIN FINDINGS: The combined noncompliance rate for the 2 clinics was high (60.5%). Three main reasons for not completing the PVSA were identified among the patient responses. These included patients feeling too busy to complete PVSA, patients feeling confident in the physician or procedure immediately after vasectomy, and patients feeling the PVSA process was too inconvenient. Our high noncompliance rates are consistent with other literature. However, the findings might also have been affected by the proportion of patients who had completed their PVSA who were not included in the telephone sample. Rates differed between the 2 clinics; the clinic with the higher compliance rate acts as an academic practice, with more time for appointments and fewer patients being referred from other physicians. CONCLUSION: Noncompliance rates for PVSA in this study were high. Three main reasons for noncompliance were identified that might help guide counseling opportunities in the future.

Unilateral hypertrophy of the labia minora: A case series.

Asymmetric hypertrophy of the labia minora is a variant of normal anatomy that has not been described in the pediatric dermatology literature. Although often asymptomatic, in some cases, it can cause functional, emotional, and psychological problems. We report the clinical characteristics and outcomes of four children who presented with unilateral labium minus hypertrophy. This case series aims to establish awareness of this condition among pediatric dermatologists and provide recommendations regarding management.

Usability, Acceptability, and Impact of a Pediatric Teledermatology Mobile Health Application.

OBJECTIVE: Pediatric dermatology appointment wait times often exceed several months. We evaluated the usability, acceptability, and clinical impact of a store-and-forward teledermatology mobile application (app) linking families with pediatric dermatologists. METHODS: Parents of children age 6 weeks to 17 years or individuals 18-21 years old were invited (by e-mail or referral) to participate in this single group, prospective study. Within the app, users photographed the skin condition, answered questions, and submitted their case for review. One pediatric dermatologist viewed cases, diagnosed conditions, and provided instructions and prescriptions. User surveys immediately following app use and 1 week later, supplemented by electronic logs, assessed usability, acceptability, and impact. RESULTS: One hundred ninety-seven parents and one adolescent submitted cases within 39 days of invitation. App users were more likely to be white than those in the population invited (67% vs. 34%, p < 0.001) and their children were slightly younger (mean 7.3 vs. 9.0 years, p < 0.001). A majority, 83% found the app easy to use, 97% felt that submitting a case took "the right amount of time," 87% were satisfied, and 93% would use the app again. Prescription receipt was associated with increased app satisfaction (p = 0.008). The median user received a response in 2.8 h (interquartile range 1.1-6.4). Had the app been unavailable, 44% reported that they would have waited for primary care, 32% for a dermatology appointment, and 7% would have gone to an urgent care clinic. CONCLUSIONS: A mobile health app allowing families to directly consult a pediatric dermatologist was usable, acceptable, and expedited care.

Probable Griseofulvin-Induced Drug Reaction with Eosinophilia and Systemic Symptoms in a Child.

A 9-year-old boy presented with fever, rash, anterior cervical lymphadenopathy, high liver enzymes, atypical lymphocytosis, and eosinophilia (drug reaction with eosinophilia and systemic symptoms [DRESS]). His history was notable for having taken griseofulvin for 3 weeks prior to onset of these findings. He improved after treatment with oral prednisone. We present a rare case of probable DRESS secondary to griseofulvin.

Use of Propranolol for Treating Hemangiomas in Infants with Previously Diagnosed Hypoglycemic Conditions.

Infantile hemangiomas (IHs) are the most common pediatric vascular tumors. They require therapy when they cause severe complications such as ulceration, amblyopia, or airway constriction. Propranolol is the only treatment that the U.S. Food and Drug Administration has approved for complicated IHs and has become first-line therapy for IHs that need to be treated. Older therapies such as systemic corticosteroids and surgery are now rarely used. Propranolol can have potentially serious adverse side effects, including bradycardia, hypotension, and hypoglycemia. There is sparse literature on the use of propranolol for IHs in patients with preexisting hypoglycemic conditions. We report three cases of infants with preexisting hypoglycemic conditions requiring diazoxide whose complicated hemangiomas were successfully and safely treated with oral propranolol.

Quantitative contrast-enhanced MRI with superparamagnetic nanoparticles using ultrashort time-to-echo pulse sequences.

PURPOSE: Conventional MRI using contrast agents is semiquantitative because it is inherently sensitive to extravoxular susceptibility artifacts, field inhomogeneity, partial voluming, perivascular effects, and motion/flow artifacts. Herein we demonstrate a quantitative contrast-enhanced MRI technique using ultrashort time-to-echo pulse sequences for measuring clinically relevant concentrations of ferumoxytol, a superparamagnetic iron oxide nanoparticle contrast agent with high sensitivity and precision in vitro and in vivo. METHODS: The method achieves robust, reproducible results by using rapid signal acquisition at ultrashort time-to-echo (UTE) to produce positive contrast images with pure T1 weighting and little T2* decay. The spoiled gradient echo equation is used to transform UTE intensities directly into concentration using experimentally determined relaxivity constants and image acquisition parameters. RESULTS: A multiparametric optimization of acquisition parameters revealed an optimal zone capable of producing high-fidelity measurements. Clinically relevant intravascular concentrations of ferumoxytol were measured longitudinally in mice with high sensitivity and precision (∼7.1% error). MRI measurements were independently validated by elemental iron analysis of sequential blood draws. Automated segmentation of ferumoxytol concentration yielded high quality three-dimensional images for visualization of perfusion. CONCLUSIONS: This ability to longitudinally quantify blood pool CA concentration is unique to quantitative UTE contrast-enhanced (QUTE-CE) MRI and makes QUTE-CE MRI competitive with nuclear imaging.

A case of phrynoderma in a patient with Crohn's disease.

Phrynoderma is a type of follicular hyperkeratosis associated with nutritional deficiencies. It is rarely seen in developed countries, although cases have been reported in patients with severe malnutrition or malabsorption secondary to various causes. This report describes a 19-year-old patient with poorly controlled Crohn's disease and malnutrition who developed the characteristic hyperkeratotic papules and plaques on his trunk and extremities in the setting of low serum vitamin A levels. To our knowledge, there are no reports of phrynoderma associated with Crohn's disease. It is likely that our patient's low vitamin A level and subsequent phrynoderma was the result of increased Crohn's disease activity and malnutrition.