Inpatient management of epidermolysis bullosa: Consensus-based hands-on instructions for neonates and postneonates.

BACKGROUND: Epidermolysis bullosa (EB), characterized by skin fragility and blistering, often requires hospitalization. Training for inpatient management of EB is limited, with no unified recommendations available in North America. OBJECTIVE: To develop consensus-derived best practices for hands-on inpatient management of EB in both the neonatal and postneonatal period. METHODS: A modified Delphi method (expert-based input via 2 surveys and a final review) was implemented. Available guidelines from EB Clinical Research Consortium centers were analyzed to determine areas of focus and formulate statements to be voted on by EB Clinical Research Consortium members, experienced EB nurses, and select family members. Study participants evaluated statements using a Likert scale: statements with at least 70% agreement were accepted; statements with 30% or more disagreement were rejected. RESULTS: Ten areas of focus were identified. Delphi participants included 15 dermatologists, 8 nurses, and 6 nonhealth care caregivers. Consensus was established on 103/119 neonatal statements and 105/122 postneonatal statements; no statements were rejected. Most recommendations applied to both age groups. LIMITATIONS: Recommendations may require adjustment based on individual patient's clinical context. CONCLUSION: Using the Delphi method, a consensus-derived resource for hospital-based health care professionals who manage patients with EB has been developed to improve the quality of inpatient care.

Subcutaneous fat necrosis of the newborn: A retrospective study of 32 infants and care algorithm.

OBJECTIVE: To describe the clinical and laboratory outcomes of infants with subcutaneous fat necrosis of the newborn (SCFN) and propose a care algorithm. METHODS: This single-center, retrospective study of infants diagnosed with SCFN at Ann & Robert H. Lurie Children's Hospital of Chicago from 2009 to 2019. RESULTS: Of 32 infants who met inclusion criteria, most were born full-term (84%), born via cesarean section (58%), had normal weight for gestational age (69%), and experienced delivery complications (53%). Twenty-nine infants (91%) had calcium drawn, and all had hypercalcemia. Three infants developed clinical symptoms of hypercalcemia, two required hospital admission, two developed nephrocalcinosis, and one developed acute kidney injury. The majority of infants (62%) had a peak ionized calcium between 1.5 and 1.6 mmol/L. No infants with peak ionized calcium less than 1.5 mmol/L developed complications of hypercalcemia. Most patients were diagnosed with hypercalcemia (86%) and demonstrated peak ionized calcium levels (59%) within the first 28 days of life. No patients developed hypercalcemia after 3 months of age. CONCLUSION: Hypercalcemia occurred in 100% of infants who had laboratory monitoring. We recommend obtaining an initial ionized calcium level when SCFN is suspected, and monitoring for the first 3 months of life if hypercalcemia has not been detected. In patients with asymptomatic hypercalcemia less than 1.5 mmol/L, there appears to be low likelihood of related complications. For symptomatic, markedly elevated (>1.6 mmol/L), or persistently elevated levels (>6 months) we suggest coordinated care with endocrinology or nephrology, consider hospitalization, and urinary system ultrasound.

Restrictive dermopathy: Three new patients with ZMPSTE24 mutations and a review of the literature.

Restrictive dermopathy (RD) is a rare and lethal laminopathy caused by mutations in LMNA or ZMPSTE24. This series reports 3 patients with RD and reviews the literature of the 113 previously reported cases, including highlights of the unique constellation of clinical findings in RD, as well as histologic, radiographic, and genetic features. Early recognition of these characteristic features is vital to establish a prompt diagnosis and provide adequate family counseling for this terminal condition.

Topical calcineurin inhibitors for pediatric periorificial dermatitis.

BACKGROUND: Data regarding the treatment of periorificial dermatitis with topical calcineurin inhibitors (TCI) in the pediatric population are limited. OBJECTIVE: To assess the clinical utility of TCI in pediatric patients with periorificial dermatitis. METHODS: A retrospective medical record review of all pediatric patients with periorificial dermatitis treated with TCIs was performed. Follow-up via telephone was performed to capture missing data. RESULTS: A total of 132 patients met the inclusion criteria. The median age at diagnosis was 4.2 years (interquartile range, 2.3-8.2). The median follow-up was 5.2 months (interquartile range, 2.1-11.7). Seventy-two patients had evaluable follow-up data. Of these, 48 (67%) patients were treated with TCI alone, 12 (16.7%) were treated with a combination of TCI and topical metronidazole, and 9 (12.5%) were treated with a combination of TCI and a systemic antibiotic. Complete response was noted in 68.8% of patients treated with TCI alone, in 75% of patients treated with TCI and metronidazole, and in 77.8% of patients treated with TCI and a systemic antibiotic. Adverse events were rare and mild in severity. CONCLUSION: Topical calcineurin inhibitors are an effective therapeutic option for pediatric patients with periorificial dermatitis and were well tolerated in this cohort.

Alopecia areata treated with hydroxychloroquine: A retrospective study of nine pediatric cases.

BACKGROUND/OBJECTIVES: Alopecia areata is a common hair loss condition that is often emotionally devastating for patients. There is a paucity of effective treatments available. Hydroxychloroquine has been reported as variably effective in inducing significant hair regrowth in adults with alopecia areata. The objective of this retrospective study was to assess the benefit and tolerability of hydroxychloroquine in pediatric alopecia areata. METHODS: We conducted a retrospective review of nine children with a history of alopecia areata treated with hydroxychloroquine. Clinical data were obtained from patients treated at two tertiary care centers in the United States between July 1, 2013, and July 1, 2015. RESULTS: Alopecia scores of five patients improved by 6 months of treatment. Four patients experienced no improvement from baseline evaluation. The most common side effect associated with treatment was gastrointestinal intolerance and headache. CONCLUSION: This retrospective series suggests that hydroxychloroquine can be considered as a treatment option for alopecia areata in children.

Blistering Disorders in Children.

Bullous disorders in children are challenging as they encompass a wide range of entities. The etiologies range from inherited to acquired disorders. Some of the more common acquired forms include allergic reactions, infections, autoimmune-mediated conditions, and toxin-mediated conditions. Some eruptions are self-limited, whereas others can be life-threatening. Obtaining a careful history, performing a detailed morphologic examination, recognizing when a skin scraping, biopsy, or culture is indicated, and having an understanding of the associated pathophysiology allows one to narrow the differential and ultimately arrive at the correct diagnosis. This review discusses the more commonly acquired bullous eruptions and how to differentiate them.

Patient perception on the usage of smartphones for medical photography and for reference in dermatology.

BACKGROUND: With increasing use of smartphones in the practice and delivery of dermatologic care, little is known on patient perceptions regarding its applications in the clinical setting. OBJECTIVE: To survey patient viewpoints regarding medical photography and the usage of smartphone applications during a medical encounter. MATERIALS AND METHODS: Cross-sectional survey of adult patients in urban academic and private practice clinics. Patients responded to questionnaires tailored to identify respondent characteristics, preferences of photographing procedure and smartphone uses, and concerns regarding smartphone camera use. RESULTS: Of the 300 patients surveyed, the majority preferred a hospital-owned camera (97.7%) over the use of personal photographing equipment including a physician's digital camera (27.5%) or a physician's smartphone camera (27.2%). The majority found personal smartphones to be an acceptable reference tool (69.7%) and means to provide information to the patient (75.3%). CONCLUSION: Patients appear to have clear preferences in the equipment used for medical photography and acceptable applications of smartphones, highlighting the importance of feedback in shaping patient-physician interactions. In light of patient opinions on camera preferences, it may be prudent to make a conscientious effort to refrain from using smartphones as a camera in the clinical setting until patient concerns regarding its use can be addressed.

Breast cancer progression in MCF10A series of cell lines is associated with alterations in retinoic acid and retinoid X receptors and with differential response to retinoids.

In most breast carcinomas and in breast cancer cell lines, retinoic acid receptor beta (RARbeta) is lost or down-regulated, whereas retinoic acid receptor alpha and gamma (RARalpha, gamma) and retinoid X receptors (RXRalpha, beta, gamma) are variably expressed. Little is known about alterations of the above receptors in hyperplastic and premalignant stages of breast cancer development. In this study, we employed the MCF10A series of breast epithelial cell lines (the parental and benign MCF10A, premalignant MCF10AT, and malignant MCF10CA1a) to assess whether in the course of their malignant transformation specific alterations in RARalpha, beta, gamma and RXRalpha, beta, gamma expression occur and whether they may affect the sensitivity of cells to retinoids. Malignant properties of the above cell lines were estimated by the nude mice xenograft transplantation assay. Among the above receptors most significant alterations occurred in RARbeta2, which was detected in the normal breast epithelial cells both, at mRNA and protein levels, but expressed in the MCF10A cell lines at mRNA level only. The transformation of benign MCF10A cells into premalignant MCF10AT and malignant MCF10CA1a was also associated with increase in RARalpha, RARgamma, RXRalpha, and RXRbeta proteins expression. All-trans retinoic acid (atRA), 9-cis retinoic acid (9cRA), and 4-(hydroxyphenyl) retinamide (4-HPR) induced RARbeta2 protein expression exclusively in the benign MCF10A cells and the former two retinoids, mRNA expression in MCF10A and MCF10AT cells, but not in malignant, MCF10CA1a cells, suggesting that the loss of inducible RARbeta expression is associated with the progression and malignant transformation of MCF10A cells. Retinoids also variable decreased the RARalpha, RARgamma and RXRalpha protein expression preferentially in the premalignant and malignant, but not in benign MCF10A cells. Among the above retinoids, 4-HPR was most efficacious in inhibiting the growth of the three cell lines and this apparently was not dependent on the levels of the RARbeta2 transcriptional activation. Thus, our data support the hypothesis that breast epithelial cells in the course of their progression and malignant transformation may differentially respond to retinoids and that not only RARbeta, but RARalpha, gamma and/or RXRalpha, beta may also serve as potential targets for retinoids in breast cancer prevention and therapy trials.