Irene Lara-Corrales

Timolol Maleate 0.5% or 0.1% Gel‐Forming Solution for Infantile Hemangiomas: A Retrospective, Multicenter, Cohort Study

Abstract:  Therapeutic options for superficial infantile hemangiomas (IH) are limited. Recently, timolol maleate gel, a topical nonselective beta‐blocker, has been reported as a potentially effective treatment for superficial IH. This study is an extension of a previously published pilot study designed to further investigate the efficacy and safety and to identify predictors of good response of topical 0.5% or 0.1% timolol maleate gel‐forming solution. This was a retrospective cohort study including patients enrolled from five centers. Patients were included if they were treated with timolol maleate 0.1% or 0.5% gel‐forming solution and had photographic documentation of the IH and at least one follow‐up visit. Patients with concomitant active treatment using other IH treatments were excluded. The primary endpoint was change in the appearance of IH as evaluated using a visual analog scale (VAS). Data from 73 subjects were available for final analysis. Timolol maleate gel‐forming solution 0.5% was used in 85% (62/73) of patients, the remainder being treated with 0.1%. The median age at treatment initiation was 4.27 months (interquartile range [IQR] 2.63–7.21 mos), and patients were treated for a mean of 3.4 ± 2.7 months. All patients except one improved, with a mean improvement of 45 ± 29.5%. Predictors of better response were superficial type of hemangioma (p = 0.01), 0.5% timolol concentration (p = 0.01), and duration of use longer than 3 months (p = 0.04). Sleeping disturbance was noted in one patient. This study further demonstrates the efficacy and tolerability of topical timolol maleate and gradual improvement with longer treatment in patients with superficial IH.

“Eczema Coxsackium” and Unusual Cutaneous Findings in an Enterovirus Outbreak

OBJECTIVE: To characterize the atypical cutaneous presentations in the coxsackievirus A6 (CVA6)–associated North American enterovirus outbreak of 2011–2012. METHODS: We performed a retrospective case series of pediatric patients who presented with atypical cases of hand, foot, and mouth disease (HFMD) from July 2011 to June 2012 at 7 academic pediatric dermatology centers. Patients were included if they tested positive for CVA6 or if they met clinical criteria for atypical HFMD (an enanthem or exanthem characteristic of HFMD with unusual morphology or extent of cutaneous findings). We collected demographic, epidemiologic, and clinical data including history of skin conditions, morphology and extent of exanthem, systemic symptoms, and diagnostic test results. RESULTS: Eighty patients were included in this study (median age 1.5 years, range 4 months–16 years). Seventeen patients were CVA6-positive, and 63 met clinical inclusion criteria. Ninety-nine percent of patients exhibited a vesiculobullous and erosive eruption; 61% of patients had rash involving >10% body surface area. The exanthem had a perioral, extremity, and truncal distribution in addition to involving classic HFMD areas such as palms, soles, and buttocks. In 55% of patients, the eruption was accentuated in areas of eczematous dermatitis, termed “eczema coxsackium.” Other morphologies included Gianotti-Crosti–like (37%), petechial/purpuric (17%) eruptions, and delayed onychomadesis and palm and sole desquamation. There were no patients with serious systemic complications. CONCLUSIONS: The CVA6-associated enterovirus outbreak was responsible for an exanthem potentially more widespread, severe, and varied than classic HFMD that could be confused with bullous impetigo, eczema herpeticum, vasculitis, and primary immunobullous disease.

A consensus approach to wound care in epidermolysis bullosa

BACKGROUND Wound care is the cornerstone of treatment for patients with epidermolysis bullosa (EB); however, there are currently no guidelines to help practitioners care for these patients. OBJECTIVES The objective of this study was to generate a list of recommendations that will enable practitioners to better care for patients with EB. METHODS An expert panel generated a list of recommendations based on the best evidence available. The recommendations were translated into a survey, and sent to other EB experts to generate consensus using an online-based modified Delphi method. The list was refined and grouped into themes and specific recommendations. RESULTS There were 15 respondents (45% response rate), with significant experience in the EB field (>10 years [67%]). Respondents included physicians (67%), nurses (17%), and allied health professionals (7%). There was more than 85% agreement for all the proposed items. These were further refined and grouped into 5 main themes (assessment and management of factors that impair healing, patient-centered concerns, local wound care, development of an individualized care plan, and organizational support) and 17 specific recommendations. LIMITATIONS There is a paucity of scientific evidence with most recommendations based on expert opinion. CONCLUSIONS These recommendations will provide practitioners with a framework for caring for these patients. Additional scientific research including effectiveness studies for everyday practice and expert consensus, may further refine these recommendations.

Expanding the therapeutic repertoire of infantile haemangiomas: cohort-blinded study of oral nadolol compared with propranolol

occurrence in male and female siblings. J Am Acad Dermatol 2008; 58 (Suppl. 2):AB91. 9 Miteva M, Aber C, Torres F, Tosti A. Frontal fibrosing alopecia occurring on scalp vitiligo: report of four cases. Br J Dermatol 2011; 165:445–7. 10 Miteva M, Whiting D, Harries M et al. Frontal fibrosing alopecia in black patients. Br J Dermatol 2012; 167:208–10. 11 Thier R, Brüning T, Roos PH et al. Markers of genetic susceptibility in human environmental hygiene and toxicology: the role of selected CYP, NAT and GST genes. Int J Hyg Environ Health 2003; 206:149–71. 12 Saurat JH, Kaya G, Saxer-Sekulic N et al. The cutaneous lesions of dioxin exposure: lessons from the poisoning of Victor Yushchenko. Toxicol Sci 2012; 125:310–17. 13 Miteva M, Tosti A. Treatment options for alopecia: an update, looking to the future. Expert Opin Pharmacother 2012; 13:1271–81.

Autoimmune blistering diseases in children.

Autoimmune blistering disorders comprise a series of conditions in which autoantibodies target components of the skin and mucous membranes, leading to blister and bullae formation. Most conditions in the spectrum of autoimmune blistering disorders are uncommonly seen in the pediatric population, even the most common ones, such as chronic bullous disease of childhood and dermatitis herpetiformis; however, they often come into the differential diagnosis of other more common pediatric entities. In addition, prompt recognition and treatment avoids unnecessary morbidity and improves ultimate outcome.

Mosaic Neurofibromatosis Type 1: A Systematic Review.

Confusion is widespread regarding segmental or mosaic neurofibromatosis type 1 (MNF1). Physicians should use the same terms and be aware of its comorbidities and risks. The objective of the current study was to identify and synthesize data for cases of MNF1 published from 1977 to 2012 to better understand its significance and associations. After a literature search in PubMed, we reviewed all available relevant articles and abstracted and synthetized the relevant clinical data about manifestations, associated findings, family history and genetic testing. We identified 111 articles reporting 320 individuals. Most had pigmentary changes or neurofibromas only. Individuals with pigmentary changes alone were identified at a younger age. Seventy‐six percent had localized MNF1 restricted to one segment; the remainder had generalized MNF1. Of 157 case reports, 29% had complications associated with NF1. In one large case series, 6.5% had offspring with complete NF1. The terms “segmental” and “type V” neurofibromatosis should be abandoned, and the correct term, mosaic NF1 (MNF1), should be used. All individuals with suspected MNF1 should have a complete physical examination, genetic testing of blood and skin, counseling, and health surveillance.

Colonization with community-acquired methicillin-resistant Staphylococcus aureus in children with atopic dermatitis: a cross-sectional study

Background  Bacterial infection with Staphylococcus aureus is a common complication of atopic dermatitis (AD). The incidence of community‐acquired methicillin‐resistant S. aureus infection (MRSA) in the AD population is unknown.

Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease

Human actin-related protein 2/3 complex (Arp2/3), required for actin filament branching, has two ARPC1 component isoforms, with ARPC1B prominently expressed in blood cells. Here we show in a child with microthrombocytopenia, eosinophilia and inflammatory disease, a homozygous frameshift mutation in ARPC1B (p.Val91Trpfs*30). Platelet lysates reveal no ARPC1B protein and greatly reduced Arp2/3 complex. Missense ARPC1B mutations are identified in an unrelated patient with similar symptoms and ARPC1B deficiency. ARPC1B-deficient platelets are microthrombocytes similar to those seen in Wiskott–Aldrich syndrome that show aberrant spreading consistent with loss of Arp2/3 function. Knockout of ARPC1B in megakaryocytic cells results in decreased proplatelet formation, and as observed in platelets from patients, increased ARPC1A expression. Thus loss of ARPC1B produces a unique set of platelet abnormalities, and is associated with haematopoietic/immune symptoms affecting cell lineages where this isoform predominates. In agreement with recent experimental studies, our findings suggest that ARPC1 isoforms are not functionally interchangeable.

Prescribing practices for systemic agents in the treatment of severe pediatric atopic dermatitis in the US and Canada: The PeDRA TREAT survey

Background: There is a paucity of literature to direct physicians in the prescribing of immunomodulators for patients with severe atopic dermatitis (AD). Objective: To survey systemic agent prescribing practices for severe childhood AD among clinicians in the United States and Canada. Methods: The TREatment of severe Atopic dermatitis in children Taskforce (TREAT), US&CANADA, a project of the Pediatric Dermatology Research Alliance (PeDRA), developed an online multiple‐response survey to assess clinical practice, gather demographic information and details of systemic agent selection, and identify barriers to their use in patients with recalcitrant pediatric AD. Results: In total, 133 of 290 members (45.9%) of the Society for Pediatric Dermatology completed the survey, and 115 of 133 (86.5%) used systemic treatment for severe pediatric AD. First‐line drugs of choice were cyclosporine (45.2%), methotrexate (29.6%), and mycophenolate mofetil (13.0%). The most commonly used second‐line agents were methotrexate (31.3%) and mycophenolate mofetil (30.4%); azathioprine was the most commonly cited third‐line agent. The main factors that discouraged use of systemic agents were side‐effect profiles (82.6%) and perceived risks of long‐term toxicity (81.7%). Limitations: Investigation of the sequence of systemic medications or combination systemic therapy was limited. Recall bias may have affected the results. Conclusion: Great variation exists in prescribing practices among American and Canadian physicians using systemic agents for treatment of pediatric AD.

A Systematic Review of Systemic Medications for Pustular Psoriasis in Pediatrics

There is lack of information and evidence‐based studies on the treatment of pediatric pustular psoriasis. Previous reports have emphasized the limitations of the existing data and encouraged the exploration of therapy optimization through more structured research. The objective of the current study was to perform a systematic review of systemic interventions for pediatric pustular psoriasis with an emphasis on clinical response and treatment outcomes. A systematic literature search was conducted using the PubMed and Embase databases from 1982 to 2012. Of 632 references identified, 14 met our inclusion criteria and were included in the analysis. A cohort of eight patients from the Hospital for Sick Children, Toronto, Canada, was also included. Information was limited to systemic treatments in children. Only English‐ and Spanish‐language articles were included. Information was gathered from 24 patients, 22 of whom (92%) presented with generalized pustular psoriasis and 2 (8%) with acral distribution. The mean age at presentation was 6.3 ± 4.9 years. More than one intervention was required in 12 (50%) cases. The most common therapies used for generalized pustular psoriasis were acitretin, cyclosporine, and methotrexate. We identified that there is lack of information regarding long‐term response to systemic drugs because the data were focused on treatment initiation. Treatment of pustular psoriasis in pediatrics is challenging. Although acitretin, methotrexate, and cyclosporine seem to control generalized pustular psoriasis within 3 months of therapy initiation, information on long‐term follow‐up is lacking. Furthermore, physicians may encounter difficulties after discontinuing or tapering medications.