Laser Treatment of Pediatric Vascular Lesions

Since its introduction in 1967, laser therapy has benefited patients and physicians alike. After the first clinical application by Goldman (Anderson RR, Parrish JA. Science 1983;220:524–527), laser therapy has become indispensable in the management of vascular birthmarks. In selecting a proper balance of wavelength, pulse duration, and energy density (fluence), the physician can mold laser energy to effectively manage lesions once considered untreatable. Now, the vast array of lesions amenable to laser therapy continues to expand. By advancing our understanding of both laser technology and vascular lesion biology, the goal of providing optimal clearance with minimal morbidity moves ever closer

Intron-Size Constraint as a Mutational Mechanism in Rothmund-Thomson Syndrome

Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder caused by deleterious mutations in the RECQL4 gene on chromosome 8. The RECQL4 gene structure is unusual because it contains many small introns <100 bp. We describe a proband with RTS who has a novel 11-bp intronic deletion, and we show that this mutation results in a 66-bp intron too small for proper splicing. Constraint on intron size may represent a general mutational mechanism, since human-genome analysis reveals that ∼15% of genes have introns <100 bp and are therefore susceptible to size constraint. Thus, monitoring of intron size may allow detection of mutations missed by exon-by-exon approaches

Aging in Suburbia: An Assessment of Senior Needs

To date, there have been no surveys focusing on older adults living in suburban communities. As the majority of American seniors reside in suburbia, it is important to understand factors that impede successful aging in these settings. This study surveyed 1,151 seniors to examine the needs of seniors living in a large suburban community across two counties in the northeastern United States. Specific areas of query included the following: transportation, health status, social support, self-sufficiency, and economic factors. Findings revealed that seniors over 85, minorities, those reporting poor health, and those who do not drive were at especially high risk of service access problems and social isolation

Atypical Forms of Incontinentia Pigmenti in Male Individuals Result from Mutations of a Cytosine Tract in Exon 10 of NEMO (IKK-γ)

Familial incontinentia pigmenti (IP [MIM 308310]), or Bloch-Sulzberger syndrome, is an X-linked dominant and male-lethal disorder. We recently demonstrated that mutations in NEMO (IKK-γ), which encodes a critical component of the NF-κB signaling pathway, were responsible for IP. Virtually all mutations eliminate the production of NEMO, causing the typical skewing of X inactivation in female individuals and lethality in male individuals, possibly through enhanced sensitivity to apoptosis. Most mutations also give rise to classic signs of IP, but, in this report, we describe two mutations in families with atypical phenotypes. Remarkably, each family included a male individual with unusual signs, including postnatal survival and either immune dysfunction or hematopoietic disturbance. We found two duplication mutations in these families, at a cytosine tract in exon 10 of NEMO, both of which remove the zinc (Zn) finger at the C-terminus of the protein. Two deletion mutations were also identified in the same tract in additional families. However, only the duplication mutations allowed male individuals to survive, and affected female individuals with duplication mutations demonstrated random or slight skewing of X inactivation. Similarly, NF-κB activation was diminished in the presence of duplication mutations and was completely absent in cells with deletion mutations. These results strongly indicate that male individuals can also suffer from IP caused by NEMO mutations, and we therefore urge a reevaluation of the diagnostic criteria

Surgery: The Treatment of Choice for Hemangiomas

The management of hemangiomas has always been a matter of controversy. Traditionally, observation has been the mainstay of therapy, with the expectation that most of the lesions will disappear spontaneously. This treatment plan was based on the premise that surgical excision or other treatments might produce a worse result than simply waiting for the lesion to resolve with an acceptable cosmetic result. This plan has been challenged because of a growing number of specialty teams that address these lesions. This article examines various cases of pediatric hemangioma and evaluates the possibility of surgical excision as a first-choice treatment in these cases. One hundred fifteen cases of surgical excision of pediatric hemangiomas performed by a single surgeon over a period of 7 years were examined. Pre- and postoperative photographs were examined. Hemangioma location, size, and type; patient's age; and surgical technique are described. Acceptable cosmetic and functional results were achieved in all surgical cases. Early excision of hemangioma should be the procedure of choice in selected cases of hemangioma. Hemangiomas in areas where a significant cosmetic defect or functional defect might ensue should have surgical excision considered as first-line treatment

Improving pediatric atopic dermatitis care in the emergency department and primary care setting: a collaborative quality improvement pilot project

Emergency department visits and healthcare expenditures for pediatric atopic dermatitis have been increasing over the last two decades. There is a paucity of replicable quality improvement initiatives addressed at educating primary care and emergency medicine clinicians on this condition. The goal of this initiative was to improve clinician knowledge and comfort in the diagnosis and management of pediatric atopic dermatitis and superinfection. Clinicians were recruited via email from academic and community settings in Travis County, Texas, in 2020. They were sent a pre-intervention survey, a series of three quizzes, and a post-intervention survey. After each quiz, participants received performance feedback and various forms of multimodal education. Differences between the first and final quiz scores and clinician confidence levels were analyzed for statistical significance. Fifty-six clinicians completed the intervention. The average overall and treatment-specific scores increased significantly by 10% and 37%, respectively. Further, confidence levels improved significantly in the majority of clinicians. Clinician qualitative feedback revealed high satisfaction. Results from this educational quality improvement project have demonstrated that this is an effective and replicable resource for educating clinicians who manage pediatric atopic dermatitis in the emergency department and outpatient setting

The New Face of Preadolescent and Adolescent Acne: Beyond the Guidelines.

Acne is a highly prevalent condition, affecting the majority of people at some point in their lifetimes, most often during adolescence. Acne has also become increasingly common among preadolescents (aged ≥7 to ≤12 years old).Acne is often treated in primary care settings by nondermatologists. The most recent acne guidelines were published in 2016; since then, there have been important developments in the acne treatment landscape. Familiarity with these options is important for physicians who manage patients with acne.The Preadolescent Acne Roundtable group of dermatologists was convened in July 2019 to support discussion around modernizing the approach to treatment and evaluation of preadolescent acne. During a face-to-face meeting, 5 key areas requiring careful communication emerged: acne pathophysiology, specifically the role of hormones; psychological aspects of acne; management of acne in younger patients; acne in skin of color; and evaluation of clinical success.This roundtable report describes these 5 focus areas, with the aim of empowering primary care physicians to refine the care they provide for patients with acne. This report can help bridge the information gap until new acne treatment guidelines are published

Clinical manifestations of pediatric psoriasis: results of a multicenter study in the United States

The clinical features of pediatric psoriasis warrant further attention. A national study was conducted to determine the prevalence of scalp and nail involvement and a history of guttate psoriasis at onset according to age, sex, and disease severity. One hundred eighty-one children ages 5 to 17 years with plaque psoriasis were enrolled in a multicenter, cross-sectional study. Subjects and guardians were asked about a history of scalp and nail involvement and whether the initial presentation was guttate. Peak psoriasis severity was assessed and defined historically as mild psoriasis (MP) or severe psoriasis (SP) according to the Physician\u27s Global Assessment and body surface area measures. One hundred forty-three (79.0%) subjects reported a history of scalp involvement, and 71 (39.2%) described a history of nail involvement. Boys were less likely than girls to report a history of scalp involvement (odds ratio [OR] = 0.40, 95% confidence interval [CI] = 0.19-0.84) but more likely to have had nail involvement (OR = 3.01, 95% CI = 1.62-5.60). Scalp and nail involvement was not related to psoriasis severity. In contrast, subjects with SP (35.9%) more often reported a history of guttate lesions than did those with MP (21.8%) (p = .02). Antecedent streptococcal infection was more common in children with guttate than those with plaque psoriasis at onset (p = .02) but did not correlate with severity. Sex-related differences in scalp and nail involvement suggest koebnerization. Preceding streptococcal infection predicts guttate morphology but not severity, and initial guttate morphology is associated with eventual greater severity of disease. More aggressive monitoring and management should be considered for guttate psoriasis, given its later association with more severe disease