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We present three new and six published infants with overlapping features of LUMBAR syndrome (lower body hemangioma, urogenital anomalies, spinal cord malformations, bony deformities, anorectal/arterial anomalies and renal anomalies) and OEIS complex (omphalocele, exstrophy, imperforate anus, and spinal defects), also known as cloacal exstrophy. OEIS is included under the recently proposed umbrella coined recurrent constellations of embryonic malformations (RCEMs). The RCEMs represent a phenotypically overlapping spectrum of rare disorders of caudal dysgenesis with unknown cause but likely shared pathogenesis. It has recently been proposed that LUMBAR be considered an RCEM. This report of infants with combined features of OEIS and LUMBAR is the first to demonstrate an overlap between LUMBAR and another RCEM, which supports LUMBAR's inclusion within the RCEM spectrum. [ABSTRACT FROM AUTHOR]

Background: Data regarding the course and treatment of pigmented purpuric dermatoses (PPD) in the paediatric population are limited. Although treatments for pigmented purpura are not well established, vitamin C and rutoside have been reported to be an effective treatment option and are widely utilized. Objective: To assess the clinical course and utility of vitamin C and rutoside in paediatric patients with PPD treated at Ann & Robert H. Lurie Children's Hospital of Chicago between 2008 and 2018. Methods: A retrospective review of all children with PPD managed at our hospital between 2008 and 2018 was performed. Additional follow‐up was obtained via telephone interviews. Results: A total of 101 patients met inclusion criteria. The female: male ratio was 1.3 : 1, and the median age at diagnosis was 8.8 years (IQR, 5.7–12.9). Median follow‐up was 7.13 months (IQR, 3–17.4). The most common PPD subtypes were lichen aureus (43%) and Schamberg (34%). Fifty‐three (52%) patients had evaluable follow‐up documentation via their medical record or phone questionnaire. Twenty‐eight patients were treated with vitamin C or rutoside or combination therapy. Twenty‐five patients received no treatment. Clearance of the rash was noted in 24 (45.3%) patients overall, including 10 (42%) patients in the treated group and 14 (58%) patients in the untreated group. Recurrence was noted in seven (13.2%) patients. Treatment with vitamin C and/or rutoside was well tolerated without side effects. None of the patients were subsequently diagnosed with vasculitis, coagulopathy or cutaneous T‐cell lymphoma. Conclusion: Pigmented purpuric dermatosis in children is a benign disorder with high rates of complete resolution. Treatment with vitamin C and rutoside is well tolerated, but in this cohort, there did not appear to be an advantage over watchful waiting without therapy. [ABSTRACT FROM AUTHOR]

Offers abstracts of medical studies. Study of positron emission tomography in spontaneous migraine; Impact of somatization on medical utilization and costs independent of psychiatric and medical comorbidity; Effects of endoscopic forehead/midface-lift on lower eyelid tension; Incidence of venous thromboembolism in the year before the diagnosis of cancer; Study of individual and neighborhood-level factors in predicting asthma; Others.

Background: Next-generation sequencing has greatly increased our understanding of vascular birthmarks. Many port-wine birthmarks are due to somatic mutations in GNAQ/GNA11 exon 183, but other genomic causes have been identified. Most congenital hemangiomas are due to somatic mutations in GNAQ/GNA11 at exon 209. Although genomically distinct, clinical overlap of congenital hemangiomas and port-wine birthmarks has occasionally been described., Objective: We report a case series of a unique segmentally distributed vascular anomaly with overlapping characteristics of port-wine birthmarks and congenital hemangiomas with other distinctive features including ulceration, atrophy, and scarring., Methods: This was a multicenter study with retrospective identification of patients via a detailed review of medical records. We also reviewed previously published cases., Results: The clinical, histological, radiological, and genomic characteristics of 19 new and 13 previously reported cases characterized by segmental distribution, sharply demarcated borders, with variable thickening are presented. All cases had central atrophy with or without episodic ulceration. Those with genomic studies (13 out of 32) had somatic activating missense mutations in GNA11 or GNAQ codon 209., Conclusions: We describe the features and propose a descriptive name segmental congenital vascular anomaly with atrophy, ulceration, and scarring (SeCVAUS) for this condition., (© 2024 Wiley Periodicals LLC.)

Purpose: To develop the PROMIS Pediatric Stigma (PPS) and Skin (PPS-Skin) by constructing a common metric for measuring stigma in children with various conditions, while capturing the unique features of each condition., Methods: Data from 860 children, ages 8-17, with a diagnosis of epilepsy, pNF (neurofibromatosis type 1 associated neurofibroma plexform), MD (muscular dystrophy), cancer, or skin conditions recruited from three projects were analyzed. Children with epilepsy, pNF and MD (sample-1) completed the original 18-item Neuro-QoL Stigma, while children with cancer and skin conditions (e.g., atopic dermatitis, psoriasis, and genetic skin disorders; sample-2) completed a 16-item version and 6 additional skin related items. Exploratory factor analysis (EFA) and confirmatory analysis (CFA) were used to evaluate unidimensionality of 24 stigma items. Differential item functioning (DIF) was used to evaluate measurement equivalence on group, gender, age, and conditions. Item response theory model (IRT) was used to construct the final measure., Results: Sufficient unidimensionality was supported by both EFA and CFA. No items showed significant DIF indicating stable measurement properties across groups of comparison. All items fit the IRT model and were able to be calibrated together to form the PPS which consists of 18 core items. The PPS-Skin (18 cores items + 6 skin items) was developed by calibrating 6 skin items onto the common metric as the PPS., Conclusions: We used IRT techniques to successfully develop the PPS and the PPS-Skin, which share a common metric and account for unique and common concerns related to chronic conditions., (© 2024. The Author(s), under exclusive licence to Springer Nature Switzerland AG.)

Competing Interests: Conflicts of interest: A.S.P. serves as a consultant for Abbvie, Abeona, Almirall, Amagma, Anaptysbio, Arena, Bausch, Bristol Myer Squibb, Dermavant, Dermira, Eli Lilly, Exicure, Forte, Leo, Lifemax, Novartis, Phoenix, Pierre Fabre, Pfizer, Rapt, Regeneron, Sanofi, Sol-Gel, UCB and Venthera, receiving honoraria; and as an investigator for Anaptysbio, Eli Lilly, Incyte, Janssen, Krystal Bio, Lenus, Regeneron and UCB, receiving no compensation. A.J.M. has advisory board contact and receives fees from Dermavant, Sanofi-Regeneron and Arcutis. L.L.K. is a clinical investigator for Leo and Sanofi. The remaining authors declare no conflicts of interest.

Background: Initial propranolol recommendations for infantile hemangioma published in 2013 were intended as provisional best practices to be updated as evidence-based data emerged., Methods: A retrospective multicenter study was performed to evaluate utility of prolonged monitoring after first propranolol dose and escalation(s). Inclusion criteria included diagnosis of hemangioma requiring propranolol of greater than or equal to 0.3 mg/kg per dose, younger than 2 years, and heart rate monitoring for greater than or equal to 1 hour. Data collected included demographics, dose, vital signs, and adverse events., Results: A total of 783 subjects met inclusion criteria; median age at initiation was 112 days. None of the 1148 episodes of prolonged monitoring warranted immediate intervention or drug discontinuation. No symptomatic bradycardia or hypotension occurred during monitoring. Mean heart rate change from baseline to 1 hour was -8.19/min (±15.54/min) and baseline to 2 hours was -9.24/min (±15.84/min). Three preterm subjects had dose adjustments because of prescriber concerns about asymptomatic vital sign changes. No significant difference existed in pretreatment heart rate or in heart rate change between individuals with later adverse events during treatment and those without., Conclusion: Prolonged monitoring for initiation and escalation of oral propranolol rarely changed management and did not predict future adverse events. Few serious adverse events occurred during therapy; none were cardiovascular., (Copyright © 2021. Published by Elsevier Inc.)

Background: Although atopic dermatitis (AD) often presents in infancy and persists into adulthood, comparative characterization of AD skin among different pediatric age groups is lacking., Objective: We sought to define skin biopsy profiles of lesional and nonlesional AD across different age groups (0-5-year-old infants with disease duration <6 months, 6-11-year-old children, 12-17-year-old adolescents, ≥18-year-old adults) versus age-appropriate controls., Methods: We performed gene expression analyses by RNA-sequencing and real-time PCR (RT-PCR) and protein expression analysis using immunohistochemistry., Results: T H 2/T H 22 skewing, including IL-13, CCL17/thymus and activation-regulated chemokine, IL-22, and S100As, characterized the common AD signature, with a global pathway-level enrichment across all ages. Nevertheless, specific cytokines varied widely. For example, IL-33, IL-1RL1/IL-33R, and IL-9, often associated with early atopic sensitization, showed greatest upregulations in infants. T H 17 inflammation presented a 2-peak curve, with highest increases in infants (including IL-17A and IL-17F), followed by adults. T H 1 polarization was uniquely detected in adults, even when compared with adolescents, with significant upregulation in adults of IFN-γ and CXCL9/CXCL10/CXCL11. Although all AD age groups had barrier abnormalities, only adults had significant decreases in filaggrin expression. Despite the short duration of the disease, infant AD presented robust downregulations of multiple barrier-related genes in both lesional and nonlesional skin. Clinical severity scores significantly correlated with T H 2/T H 22-related markers in all pediatric age groups., Conclusions: The shared signature of AD across ages is T H 2/T H 22-skewed, yet differential expression of specific T H 2/T H 22-related genes, other T H pathways, and barrier-related genes portray heterogenetic, age-specific molecular fingerprints., (Copyright © 2021 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.)

Background: The Childhood Atopic Dermatitis Impact Scale (CADIS) with 45 items may be burdensome to complete. We therefore aimed to develop a CADIS short-form., Methods: Parents of 300 children completed the prototype CADIS. Exploratory factor analysis was conducted on the 45-item CADIS version. The most representative items were chosen. Confirmatory factor analysis was used to confirm the a priori factor structure. Content validity was assessed in a focus group of patients, parents, clinicians, methodologists and industry delegates. Internal consistency, 48-h test-retest reliability, construct validity and responsiveness of the newly developed short-form were assessed., Results: A total of 270 families provided data at baseline, 34 after 48 h and 228 after 4 weeks. Fourteen items of three different factors fulfilled the proposed eligibility criteria and were included in the draft short-form. After the content validity rating, one item relating to the child's sleep was added to further improve content validity. The confirmatory factor analyses showed good model fit, and a 15-item short-form was initiated, the CADIS-SF15. The total scale and the three domains showed good internal consistency and test-retest reliability. The correlation between SCORAD and other subjective measures was consistent with our hypotheses. Differences in scores between mild, moderate and severe AD patients were significant, and the CADIS-SF15 was able to detect changes in 'improving' patients over time., Conclusion: The CADIS-SF15 with 15 items in three domains is an internally consistent, reliable, valid, responsive and brief measure of QoL in children affected with AD and their parents. Further evaluation of clinical applicability is required., (© 2020 The Authors. Journal of the European Academy of Dermatology and Venereology published by John Wiley & Sons Ltd on behalf of European Academy of Dermatology and Venereology.)

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., (Copyright © 2020 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.)

Background: The Childhood Atopic Dermatitis Impact Scale (CADIS) is an instrument to measure quality of life in young children affected by atopic dermatitis, and their parents., Objectives: To evaluate the responsiveness (sensitivity to change), smallest detectable change (SDC) and minimal important change (MIC) of the CADIS., Methods: Parents and primary caregivers of 300 young children completed the CADIS and a global rating of their child's skin condition at baseline and a 4-week follow-up. Kruskal-Wallis tests, Wilcoxon tests and effect sizes were used to assess responsiveness. The SDC can be seen as a change beyond measurement error. Anchor-based and distribution-based methods, and an integration of both methods were used to estimate the MIC., Results: In total, 270 families provided data at baseline and 228 at follow-up. The CADIS total change score and most of the domain scores had moderate-to-strong correlations with the skin change score. Patients were grouped according to the skin change score, which served as an anchor. Children whose parents noted an improvement of the skin showed lower CADIS scores at follow-up (P < 0·001). For the SDC we obtained score changes of 1·34 points on the total score and < 1·0 points on each domain score. All detected MIC values passed the SDC cut-off., Conclusions: The CADIS is sensitive to change towards improvement of quality of life. A change > 12% on the total score or each domain score very likely represents a clinically important change. What's already known about this topic? Atopic dermatitis reduces the quality of life of affected children and their parents. The Childhood Atopic Dermatitis Impact Scale (CADIS) has been evaluated and translated into two further languages. What does this study add? Further validation of the responsiveness of the CADIS, and whether it is sensitive to change in patients whose condition had changed. Calculation of the smallest detectable change. What are the clinical implications of this work? Estimation of the minimal important change in CADIS provides benchmarks for clinical practice., (© 2019 British Association of Dermatologists.)

Importance: Oral propranolol is widely considered to be first-line therapy for complicated infantile hemangioma, but its use in patients with PHACE (posterior fossa malformations, hemangioma, arterial anomalies, cardiac defects, eye anomalies) syndrome has been debated owing to concerns that the cardiovascular effects of the drug may increase the risk for arterial ischemic stroke., Objective: To assess the incidence of adverse events among patients with PHACE syndrome receiving oral propranolol for infantile hemangioma., Design, Setting, and Participants: This multicenter retrospective cohort study assessed the incidence of adverse events among 76 patients with PHACE syndrome receiving oral propranolol for infantile hemangioma at 11 tertiary care, academic pediatric dermatology practices. Medical records from January 1, 2010, through April 25, 2017, were reviewed., Exposures: Patients received oral propranolol, 0.3 mg/kg/dose or more., Main Outcomes and Measures: The main outcome was the rate and severity of adverse events occurring throughout the course of treatment with oral propranolol, as documented in the medical records. Adverse events were graded from 1 to 5 using a scale derived from the Common Terminology Criteria for Adverse Events and were considered to be serious if they were grade 3 or higher., Results: A total of 76 patients (59 girls and 17 boys; median age at propranolol initiation, 56 days [range, 0-396 days]) met the inclusion criteria. There were no reports of serious adverse events (ie, stroke, transient ischemic attack, or cardiovascular events) during treatment with oral propranolol. A total of 46 nonserious adverse events were reported among 29 patients (38.2%); the most commonly reported nonserious adverse events were sleep disturbances and minor gastrointestinal tract and respiratory tract symptoms. In a comparison with 726 infants who received oral propranolol for hemangioma but did not meet criteria for PHACE syndrome, there was no significant difference in the rate of serious adverse events experienced during treatment (0 of 76 patients with PHACE syndrome and 3 of 726 patients without PHACE syndrome [0.4%])., Conclusions and Relevance: This study found that oral propranolol was used to treat infantile hemangioma in 76 patients with PHACE syndrome and that no serious adverse events were experienced. These data provide support for the safety of oral propranolol in this patient population.

PLCG2-associated antibody deficiency and immune dysregulation (PLAID) is an autosomal dominant inherited disease caused by genomic deletion in PLCG2 and is characterized by cold urticaria, humoral immune deficiency, cutaneous granulomas, and autoimmune disease. The patient described in this case had a typical presentation for a PLAID phenocopy and experienced intense pruritus, a common complication of PLAID, starting in early childhood. After trialing H1 and H2 blockers with no improvement, oral glycopyrrolate was used with near resolution of the patient's symptoms. Given that the pruritus in PLAID is related to sweat-induced evaporative cooling, practitioners who encounter this disease should consider glycopyrrolate in their management of PLAID-associated pruritus., (© 2019 Wiley Periodicals, Inc.)

The differential diagnosis of a congenital cutaneous vascular-appearing mass in a newborn is broad and includes both benign and malignant tumors. We report the case of a newborn who presented with an erythematous exophytic skin nodule on the right upper leg. Excision was performed due to ulceration, concern for bleeding, and for diagnosis. Pathology revealed the mass to be an infantile myofibroma. This case highlights the importance of considering a broad differential diagnosis in a newborn with a cutaneous mass. While history, physical exam, and imaging can help diagnose some cases, a biopsy or excision is often needed to distinguish benign lesions from more concerning lesions., Competing Interests: The authors declare that they have no conflicts of interest., (Copyright © 2019 Farooq Shahzad et al.)

Objective: To estimate the health and economic impact of feeding partially hydrolyzed formula-whey (PHF-W) instead of standard cow's milk formula (CMF) for the first 4 months of life among US infants at high risk for developing atopic dermatitis (AD)., Study Design: A Markov model was developed integrating published data, a survey of US pediatricians, costing sources and market data, and expert opinion. Key modeled outcomes included reduction in AD risk, time spent post AD diagnosis, days without AD flare, and AD-related costs. Costs and clinical consequences were discounted at 3% annually., Results: An estimated absolute 14-percentage point reduction in AD risk was calculated with the use of PHF-W compared with CMF (95% CI for difference, 3%-22%). Relative to CMF, PHF-W decreased the time spent post-AD diagnosis by 8.3 months (95% CI, 2.78-13.31) per child and increased days without AD flare by 39 days (95% CI, 13-63) per child. The AD-related, 6-year total cost estimate was $495 less (95% CI, -$813 to -$157) per child with PHF-W ($724 per child; 95% CI, $385-$1269) compared with CMF ($1219 per child; 95% CI, $741-$1824)., Conclusion: Utilization of PHF-W in place of CMF as the initial infant formula administered to high-risk US infants not exclusively breastfed during the first 4 months of life may reduce the incidence and economic burden of AD. Broad implementation of this strategy could result in a minimum savings of $355 million per year to society., (Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.)

Background: Eczema is a common chronic or chronically relapsing skin disease that has a substantial impact on quality of life (QoL). By means of a consensus-based process, the Harmonising Outcome Measures in Eczema (HOME) initiative has identified QoL as one of the four core outcome domains to be assessed in all eczema trials (Allergy 67(9):1111-7, 2012). Various measurement instruments exist to measure QoL in adults with eczema, but there is a great variability in both content and quality (for example, reliability and validity) of the instruments used, and it is not always clear if the best instrument is being used. Therefore, the aim of the proposed research is a comprehensive systematic assessment of the measurement properties of the existing measurement instruments that were developed and/or validated for the measurement of patient-reported QoL in adults with eczema., Methods/design: This study is a systematic review of the measurement properties of patient-reported measures of QoL developed and/or validated for adults with eczema. Medline via PubMed and EMBASE will be searched using a selection of relevant search terms. Eligible studies will be primary empirical studies evaluating, describing, or comparing measurement properties of QoL instruments for adult patients with eczema. Eligibility assessment and data abstraction will be performed independently by two reviewers. Evidence tables will be generated for study characteristics, instrument characteristics, measurement properties, and interpretability. The quality of the measurement properties will be assessed using predefined criteria. Methodological quality of studies will be assessed using the COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN) checklist. A best evidence synthesis will be undertaken if more than one study has investigated a particular measurement property., Discussion: The proposed systematic review will produce a comprehensive assessment of measurement properties of existing QoL instruments in adult patients with eczema. We aim to identify one best currently available instrument to measure QoL in eczema patients., Systematic Review Registration: PROSPERO CRD42015017138.

Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal-dominant disorder, caused by heterozygous RASA1 mutations, and manifesting multifocal CMs and high risk for fast-flow lesions. A limited number of patients have been reported, raising the question of the phenotypic borders. We identified new patients with a clinical diagnosis of CM-AVM, and patients with overlapping phenotypes. RASA1 was screened in 261 index patients with: CM-AVM (n = 100), common CM(s) (port-wine stain; n = 100), Sturge-Weber syndrome (n = 37), or isolated AVM(s) (n = 24). Fifty-eight distinct RASA1 mutations (43 novel) were identified in 68 index patients with CM-AVM and none in patients with other phenotypes. A novel clinical feature was identified: cutaneous zones of numerous small white pale halos with a central red spot. An additional question addressed in this study was the "second-hit" hypothesis as a pathophysiological mechanism for CM-AVM. One tissue from a patient with a germline RASA1 mutation was available. The analysis of the tissue showed loss of the wild-type RASA1 allele. In conclusion, mutations in RASA1 underscore the specific CM-AVM phenotype and the clinical diagnosis is based on identifying the characteristic CMs. The high incidence of fast-flow lesions warrants careful clinical and radiologic examination, and regular follow-up., (© 2013 WILEY PERIODICALS, INC.)

Objective: To describe atopic dermatitis (AD) management patterns in children ≤36 months old as reported by pediatricians, dermatologists, and allergists in the US., Study Design: A nationally-representative survey was administered to pediatricians (n = 101), dermatologists (n = 26), and allergists (n = 26). Main outcomes included referrals to health care professionals, suggested/ordered laboratory tests, management approach (dietary, pharmacologic, or combination of both) by age, AD location, and severity., Results: Significant differences were observed in referrals to healthcare professionals (P < .001). Pediatricians more frequently referred to dermatologists than allergists in mild (52.4% vs 32.0%) and moderate/severe (60.6% vs 38.1%) cases. Dermatologists referred to allergists less frequently for mild (9.1%) than moderate/severe (40.7%) AD cases. Pediatricians (59%), allergists (61.5%), and dermatologists (26.9%) reported treating at least some of their patients with AD with dietary management (infant formula change) alone (with or without emollients). Soy-based formulas were often used. For mild AD, the most commonly reported first-line pharmacologic treatments included topical emollients, topical corticosteroids, and barrier repair topical therapy/medical devices. Over 80% of physicians used a dietary and pharmacologic combination approach. Dermatologists were most likely to manage AD symptoms with a pharmacologic-only approach. AD lesion location influenced pharmacologic treatment in >80% of physicians., Conclusions: Significant and distinct differences in AD treatment approach exist among physicians surveyed. Most pediatricians and allergists use formula change as a management strategy in some patients, whereas dermatologists favor a pharmacologic approach. This diversity may result from inadequate evidence for a standard approach. Consistent methods for managing AD are needed., (Copyright © 2013 The Authors. Published by Mosby, Inc. All rights reserved.)

The objective of this retrospective study of patients evaluated between July 2008 and October 2011 in seven pediatric dermatology centers was to combine collective clinical experience using oral propranolol therapy in 32 infants with PHACE syndrome (Posterior fossa [brain malformations present at birth], Hemangioma [usually covering a large area of the skin of the head or neck >5 cm]; Arterial lesions [abnormalities of the blood vessels in the neck or head]; Cardiac abnormalities or aortic coarctation [abnormalities of the heart or blood vessels that are attached to the heart]; Eye abnormalities) with cervical or intracranial arterial anomalies. Patients were given an average daily dose of oral propranolol of 1.8 mg/kg divided two or three times per day for an average duration of 12.3 months. The main outcome measure was adverse neurologic events. Seven (22%) patients were categorized as being at higher risk for stroke, defined on magnetic resonance imaging as severe, long-segment narrowing or nonvisualization of major cerebral or cervical vessels without anatomic evidence of collateral circulation, often in the presence of concomitant cardiovascular comorbidities. Only one patient developed a change in neurologic status during propranolol treatment: mild right hemiparesis that remained static and improved while propranolol was continued. An additional three patients had worsening hemangioma ulceration or tissue necrosis during therapy. This is the largest report thus far of patients with PHACE syndrome treated with propranolol. Although no catastrophic neurologic events occurred, serious complications, particularly severe ulcerations, were seen in a minority of patients, and given the sample size, we cannot exclude the possibility that propranolol could augment the risk of stroke in this population. We propose radiologic criteria that may prove useful in defining PHACE patients as being at high or standard risk for stroke. We continue to advise caution in using systemic beta-blockers, particularly for children with vascular anomalies at higher risk for stroke. Use of the lowest possible dosage, slow dosage titration, three times per day dosing to minimize abrupt changes in blood pressure, and close follow-up, including neurologic consultation as needed, are recommended., (© 2012 Wiley Periodicals, Inc.)

Intralesional corticosteroids are one preferred method for treating small localized infantile hemangiomas because of efficacy in halting proliferation and minimal systemic side effects. Although often efficacious, this procedure is uncomfortable for infants. We describe the successful use of an oral 24% sucrose solution given via needleless syringe to the anterior tip of the tongue or in combination with a pacifier as an analgesic during intralesional injection of infantile hemangioma. Options for anesthesia in this young age group include topical prilocaine/lidocaine, injectable lidocaine, and parent soothing. Most often, topical or intralesional anesthesia is deferred when treating hemangiomas of infancy with intralesional corticosteroids. We use oral sucrose as a compassionate option.

Tinea capitis is the most common dermatophyte infection in children. The clinical presentation varies from subtle asymptomatic scaling to inflammatory suppurative nodules and draining tracks. Both chronic and acute inflammatory infections may damage the hair follicle leading to secondary cicatricial alopecia. In rare instances, the initial presentation can mimic a primary cicatricial alopecia. We present three cases of tinea capitis in children masquerading as cicatricial alopecia and discuss the possible host immune and fungal antigenic factors that may influence the course of disease and its clinical presentation. An understanding of the clinical morphology of tinea capitis in the context of both host and fungal factors may improve treatment strategies and direct future paradigms of therapy.

Background: The condition known as macrocephaly-cutis marmorata telangiectatica congenita syndrome (M-CMTC) is a rare congenital syndrome of unknown etiology characterized by macrocephaly and vascular lesions that have been described as either cutis marmorata or cutis marmorata telangiectatica congenita (CMTC). Most patients also exhibit facial and limb asymmetry; somatic overgrowth; developmental delay; capillary malformations of the nose, philtrum, and/or upper lip; neurologic abnormalities; syndactyly or polydactyly; craniofacial abnormalities; and joint laxity or soft skin., Observations: We describe 12 patients with this condition from tertiary care medical centers (8 cases) and accrued via an M-CMTC support group Web site (4 cases). All patients showed reticulated or confluent port-wine stains (PWS), not CMTC. Seven of the 12 patients also had centrofacial capillary malformations. In our comprehensive review of 100 previously reported cases, only 34 were accompanied by photographs that were sufficiently clear to review for diagnostic purposes. None had true CMTC, with most having reticulated PWS or persistent cutis marmorata., Conclusions: Reticulated or confluent PWS and persistent capillary malformations of the central face, rather than CMTC, are the most characteristic cutaneous vascular anomalies seen in so-called M-CMTC syndrome. The name macrocephaly-capillary malformations (M-CM) more accurately reflects the features of this syndrome.

Stevens-Johnson syndrome (SJS) is not typically reported following hematopoietic stem cell transplant (HSCT). The most severe form of SJS, which is toxic epidermal necrolysis (TEN) has been reported following HSCT, albeit very rarely. We describe a case of Mycoplasma-associated SJS following HSCT. While this association is commonly reported in previously healthy children, it has not been reported in patients following HSCT., ((c) 2007 Wiley-Liss, Inc.)

Background: The association between a family history of vitiligo and other autoimmune/endocrine diseases and increased incidence of childhood vitiligo has been described; however, the influence of family history on the clinical characteristics of childhood vitiligo has rarely been investigated., Objective: We sought to examine the relationship between family history and the incidence, extent, and course of childhood vitiligo., Methods: A retrospective chart review and telephone interviews were performed for 137 pediatric patients with vitiligo and 140 control patients (patients with acne, warts, or molluscum contagiosum matched in age, sex, and ethnicity to the study group). Information about the age, sex, ethnicity, age of onset and diagnosis, site of onset, distribution, treatment, course of disease, and family history was obtained., Results: Patients with vitiligo and an extended family history of vitiligo were more likely to have an earlier age of onset of disease than those with a negative family history (odds ratio = 3.70, P = .024). There was no association between family history and site of onset, distribution, or course of disease., Limitations: A relatively small sample size, recall bias, disease misclassification, and confounding factors are potential limitations of this study., Conclusion: Earlier onset of pediatric vitiligo is linked to a family history of vitiligo. Awareness of this association can allow for closer monitoring, earlier detection, and earlier initiation of treatment.

Raised limb bands are a recently described disorder characterized by skin-colored linear plaques typically located on the extremities of affected children. Various etiologies for their development have been proposed, including amniotic bands. We report a child with extensive raised bands of the trunk and extremities and documented amniotic bands in utero. We propose altering the name of this entity to reflect the wider potential distribution of the lesions. The presence of documented amniotic bands and other sequelae typical for the amniotic band sequence in this patient strongly implicates amniotic bands or related pathology in the formation of acquired raised bands of infancy.

Objectives: To determine the efficacy of systemic corticosteroid therapy in treating enlarging, problematic cutaneous hemangiomas and to assess the relationship of dose to response and adverse effects., Design: A quantitative systematic literature review was performed and inclusion and exclusion criteria were applied., Setting: Patients were treated in primary care, referral centers, and institutional practices. Most patients were ambulatory, although some required hospitalization., Patients: Inclusion criteria were original case series with a minimum of 5 patients with enlarging, problematic cutaneous hemangiomas treated with systemic corticosteroids. Exclusion criteria were being older than 2 years, receiving simultaneous other treatments, being lost to follow-up, or having insufficient information. Twenty-four original case series met inclusion criteria; 10 case series remained (184 patients) after exclusion criteria were applied., Intervention: Patients were given a mean prednisone equivalent daily dose of 2.9 mg/kg (95% confidence interval [CI], 2.7-3.1 mg/kg) for a mean of 1.8 months (95% CI, 1.5-2.2 months)., Main Outcome Measures: Response and rebound rates and dose-response and adverse effects-response relationships in responders vs nonresponders., Results: Response was 84% (95% CI, 78%-89%; range, 60%-100%) and rebound was 36% (95% CI, 29%-44%; range, 0%-65%). A significant difference was found between the mean dose administered to responders vs nonresponders (P<.001). No significant difference was observed as to the occurrence of adverse effects (P =.3)., Conclusion: Systemic corticosteroid treatment seems to be effective for problematic cutaneous hemangiomas of infancy.

Accurate diagnosis of congenital and acquired pigmented lesions accompanied by an understanding of their natural history and disease associations is critical for the appropriate management and counseling of adolescents, as well as timely referral to specialists when indicated. The recognition of atypical nevi and other melanoma risk factors in adolescents should lead to institution of preventive measures, such as routine skin examinations and counseling regarding sun protection. Because the incidence of melanoma is increasing in adolescents as well as adults, prompt identification of suspicious melanocytic lesions may lead to early diagnosis and effective treatment of melanoma. Numerous pigmented lesions can also herald the presence of a multisystem disorder; the recognition of syndromes associated with these lesions should result in appropriate evaluation and genetic counseling of affected individuals. This review distinguishes pigmented lesions that histologically represent a proliferation of melanocytes and that may therefore confer an increased risk for melanoma, from pigmented lesions due to increased melanization alone (i.e., increased melanin content) that are not associated with malignancy.