Comparing clinical acne vulgaris severity to adolescent and parent perceptions of acne severity and impact on quality of life.

BACKGROUND/OBJECTIVES: Little research has compared clinician acne severity assessment with either adolescent- or parent-rated scales of acne severity or impact on quality of life (QOL). We sought to assess how adolescents and their parents perceive the severity and impact of acne on the adolescent's QOL and correlate this with clinical severity. METHODS: Each adolescent and a parent completed a validated QOL survey regarding the adolescent's acne and rated the adolescent's acne severity and QOL impact using a Likert scale. Clinicians assessed the adolescent's acne using a standardized acne severity scale. Statistical analysis compared adolescent scores with respective parent scores or with clinician assessment using a paired t test or Spearman rank-order correlation test. RESULTS: The Likert impact score more accurately reflected acne impact on QOL for adolescents than for parents when considering the validated QOL survey as the gold standard (r2  = .56 vs r2  = .36). Likert scores for adolescents and parents were weakly correlated for acne severity but not for acne QOL impact (r2  = .36 vs r2  = .18). Correlations of acne severity scores between clinician and either adolescent or parent were weak. CONCLUSIONS: Parents and adolescents are in relative agreement regarding acne severity and QOL impact. However, parent and adolescent perceptions are disparate from clinician acne assessment. It is important that physicians identify and consider adolescent and parent perceptions in addition to clinical assessment to better inform the approach to acne management.

Shedding Light on Alopecia Areata in Pediatrics: A Retrospective Analysis of Comorbidities in Children in the National Alopecia Areata Registry.

Alopecia areata (AA) is a common autoimmune disease and it is challenging to predict which patients will have severe disease. The purpose of this retrospective study was to identify comorbidities in children enrolled in the National Alopecia Areata Registry. Atopic dermatitis was more common in patients with severe AA than in those with mild disease. The most common autoimmune comorbidities were vitiligo, psoriasis, thyroid disease, and juvenile idiopathic arthritis.

Score of Toxic Epidermal Necrosis Predicts the Outcomes of Pediatric Epidermal Necrolysis.

BACKGROUND/OBJECTIVES: Epidermal necrolysis (Stevens-Johnson syndrome and toxic epidermal necrolysis) includes immune-mediated, life-threatening inflammatory blistering disorders that can affect children. The Score of Toxic Epidermal Necrosis (SCORTEN) tool has accurately predicted the outcome of these disorders in adults but has not been tested in children. METHODS: We performed a retrospective chart review to compare the accuracy of the adult SCORTEN tool with that of two modifications tailored to children in predicting disease outcome. RESULTS: The longer the patient's median length of hospital stay was, the higher the adult and two proposed pediatric SCORTENs were. In addition, all patients who died had SCORTENs greater than 4. CONCLUSION: The pediatric-modified tools were not superior to the adult SCORTEN, which accurately predicted outcome.

Use of Transparent Film Dressing for Dermoscopy of Mucosal Lesions.

Genital and mucosal nevi are not uncommonly encountered in children. These type of nevi highlight challenges in performing a thorough dermoscopic examination. Contact dermoscopy can provide additional information about a nevus that non-contact dermoscopy cannot. We propose applying a sterile transparent film dressing over the dermatoscope to act as a waterproof barrier that is also impermeable to bacteria and viruses. This provides a sanitary way to evaluate nevi in genital skin as well as on other mucosal surfaces.

Life-threatening dermatologic adverse events in oncology.

The incidences of life-threatening toxicities such as Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are inconsistently reported. The potential association of anticancer agents with SJS or TEN has not been systematically investigated. We searched the literature (Ovid: 1950 to June 2013 and PubMed: 1948 to June 2013) using terms for SJS/TEN and anticancer therapies. Primary case reports, case series, and clinical trials were included. In addition, MedWatch, the Food and Drug Administration Adverse Event Reporting System (FAERS), was searched (1968 to August 2012) for SJS/TEN reports associated with anticancer therapies. Proportional reporting ratios (PRR>2, N>3), empirical Bayes geometric mean (EBGM>2, N>3), and lower 95% confidence interval (EBGM0.05>2) were used as thresholds to constitute a signal of association between SJS/TEN and anticancer drugs. There were 46 SJS and 37 TEN cases associated with 18 and 22 anticancer drugs in the literature, respectively. Among cases in the FAERS, significant signals were associated with SJS for bendamustine and with TEN for bendamustine, busulfan, chlorambucil, fludarabine, lomustine, and procarbazine. Several drugs reported in the published literature to be associated with SJS/TEN were not found to have significant signals in FAERS. Proactive pharmacovigilance to detect and define safety signals serves to aid oncology practitioners in the recognition of possible, yet uncommon, serious, and/or life-threatening skin reactions.

Topical timolol 0.5% gel-forming solution for small deep facial infantile hemangiomas.

We report three cases of successful treatment of proliferating deep infantile hemangiomas with topical timolol 0.5% gel-forming solution (GFS) used two to three times daily. We recommend considering timolol as an initial option for small, deep facial hemangiomas that are not causing functional compromise or complications but may have an unsatisfactory cosmetic appearance. In our experience, albeit limited, this is a safe alternative to watchful waiting.

Update in molecular diagnostics in melanocytic neoplasms.

Future classification systems for melanocytic neoplasms will likely include the integration of molecular aberrations. A number of studies have shown that many gene mutations and chromosomal copy number aberrations may correlate with characteristic clinical and morphologic features for melanocytic neoplasms. This review discusses newly described familial germline mutations such as the BRCA1-associated protein-1 familial melanoma syndrome, recently described somatic mutations, and chromosomal copy number aberrations recently described in melanoma. Further, we discuss how these specific molecular aberrations correlate with specific clinical and morphologic features in melanocytic neoplasm and their implications for prognosis and molecular diagnostics. In addition, we discuss state of the art advancements in molecular diagnostics for melanocytic neoplasms and newly developed fluorescence in situ hybridization assays including the utility of fluorescence in situ hybridization for 9p21 in spitzoid melanocytic neoplasms. Lastly, we discuss a phenomenon known as paradoxical activation of wild-type BRAF seen in patients treated with vemurafenib and some potential clinical presentations of this process.

Oral sucrose for pain relief in young infants with hemangiomas treated with intralesional steroids.

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.

Magnetic toys: the emerging problem in pediatric ingestions.

Acute abdominal pain in children presents a diagnostic dilemma. Although most children with acute abdominal pain have self-limited conditions, the pain may herald a surgical or medical emergency. Timely diagnosis is essential so treatment can be initiated and morbidity is prevented. There are common conditions that cause problems in most age groups (such as appendicitis) and others that are usually confined to a specific age group (such as intussusception). In younger children, in addition to anatomical causes of abdominal pain, foreign body ingestions may cause distress. It is crucial for a clinician to remember this increasingly common cause of abdominal pain to avoid complications such as bowel obstruction, intestinal necrosis, and perforation. We present the case of acute abdominal pain due to ingestion.

Eruptive xanthomas masquerading as molluscum contagiosum.

Eruptive xanthomas are cutaneous manifestations of hyperlipidemias in which lipids accumulate in large foam cells within the skin. They classically present as crops of 1- to 4-mm yellow-orange papules and are often associated with extreme hypertriglyceridemia. We describe a 12-year-old boy with autism who was thought to have widespread molluscum contagiosum for a year before dermatologic consultation was obtained. Recognition of eruptive xanthomas led to the discovery of massive hypertriglyceridemia (serum triglycerides 6853 mg/dL) and diabetes mellitus. Through medical intervention, including insulin and fenofibrate therapy, and dietary modification with weight loss, the xanthomas cleared during the subsequent months, and his serum triglyceride levels nearly normalized.

Pathogenesis-based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolism.

Identification of the underlying genetic, cellular, and biochemical basis of lipid metabolic disorders provides an opportunity to deploy corrective, mechanism-targeted, topical therapy. We assessed this therapeutic approach in two patients with Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome, an X-linked dominant disorder of distal cholesterol metabolism. On the basis of the putative pathogenic role of both pathway-product deficiency of cholesterol and accumulation of toxic metabolic intermediates, we assessed the efficacy of combined therapy with lovastatin and cholesterol. We also evaluated the basis for the poorly understood, unique lateralization of the cutaneous and bone malformations of CHILD syndrome by analyzing gene activation in abnormal and unaffected skin. Ultrastructural analysis of affected skin showed evidence of both cholesterol depletion and toxic metabolic accumulation. Topical treatment with lovastatin/cholesterol (but not cholesterol alone) virtually cleared skin lesions by 3 months, accompanied by histological and ultrastructural normalization of epidermal structure and lipid secretion. The unusual lateralization of abnormalities in CHILD syndrome reflects selective clearance of keratinocytes and fibroblasts that express the mutant allele from the unaffected side. These findings validate pathogenesis-based therapy that provides the deficient end product and prevents accumulation of toxic metabolites, an approach of potential utility for other syndromic lipid metabolic disorders.