Emma Lanuti

Pediatric FAST and Elevated Liver Transaminases: An Effective Screening Tool in Blunt Abdominal Trauma

BACKGROUND The current standard for the evaluation of children with blunt abdominal trauma (BAT) consists of physical examination, screening lab values, and computed tomography (CT) scan. We sought to determine if the focused assessment with sonography for trauma (FAST) combined with elevated liver transaminases (AST/ALT) could be used as a screening tool for intra-abdominal injury (IAI) in pediatric patients with BAT. METHODS Registry data at a level 1 trauma center was retrospectively reviewed from 1991-2007. Data collected on BAT patients under the age of 16 y included demographics, injury mechanism, ISS, GCS, imaging studies, serum ALT and AST levels, and disposition. AST and ALT were considered positive if either one was >100 IU/L. RESULTS Overall, 3171 cases were identified. A total of 1008 (31.8%) patients received CT scan, 1148 (36.2%) had FAST, and 497 (15.7%) patients received both. Of the 497 patients, 400 (87.1%) also had AST and ALT measured. FAST was 50% sensitive, 91% specific, with a positive predictive value (PPV) of 68%, negative predictive value (NPV) of 83%, and accuracy of 80%. Combining FAST with elevated AST or ALT resulted in a statistically significant increase in all measures (sensitivity 88%, specificity 98%, PPV 94%, NPV 96%, accuracy 96%). CONCLUSIONS FAST combined with AST or ALT > 100 IU/L is an effective screening tool for IAI in children following BAT. Pediatric patients with a negative FAST and liver transaminases < 100 IU/L should be observed rather than subjected to the radiation risk of CT.

Pseudoxanthoma elasticum–like papillary dermal elastolysis: A large case series with clinicopathological correlation

BACKGROUND Pseudoxanthoma elasticum (PXE)-like papillary dermal elastolysis (PDE) is a rare acquired elastic tissue disorder. To date, less than 20 cases have been reported. OBJECTIVE We report a case series of 17 patients presenting with PXE-like PDE and discuss the clinicopathological correlation. METHODS Seventeen cases of PXE-like PDE were collected prospectively and evaluated for common demographic, clinical, and histopathological features. RESULTS All patients were women with a mean age of 61.8 years. The lateral sides and back of neck were the most common sites of involvement (100%), followed by the supraclavicular region (41.2%) and the axilla (35.3%). Systemic involvement was absent in all cases, and in 7 patients the discovery of PXE-like PDE was an incidental finding. The main histopathologic features included complete loss (82.4%) or marked reduction (17.6%) of elastic fibers in the papillary dermis and the presence of melanophages in the same zone (88.2%). LIMITATIONS Our results require validation with a larger series. CONCLUSIONS Our findings help to differentiate PXE-like PDE from similar elastic tissue disorders based on the selective elastic tissue elimination in the papillary dermis and the presence of melanophages in the same zone as a possible consequence of subclinical junctional photodamage. PXE-like PDE is likely underdiagnosed rather than rare, and dermatologists should be aware of its similarity to inherited PXE to spare unnecessary investigations because of the lack of systemic involvement. Clinicopathologic correlation is critical as hematoxylin-eosin staining is nonspecific and elastic tissue stains are necessary to make the correct diagnosis.

Trichoscopy and histopathology of follicular keratotic plugs in scalp discoid lupus erythematosus.

Dermoscopy has become an integral part of diagnosing scalp disorders including discoid lupus erythematosus (DLE). Follicular keratotic plugs are a marker of DLE and correlate with the hyperkeratosis and plugging of the follicular ostia with keratotic material. They may be present in acute or chronic lesions and their presence alone or in conjunction with other described dermoscopic features can lead to timely diagnosis and initiation of treatment. We present three cases of scalp DLE and discuss the clinical, dermoscopic and histopathologic features.

Overcoming Obstacles for Gene Therapy for Recessive Dystrophic Epidermolysis Bullosa

Recessive dystrophic epidermolysis bullosa (RDEB, OMIM ID #226600) is a severe blistering disease that affects quality of life and is associated with increased mortality, often from squamous cell carcinoma (Fine et al., 1999). Mutations in COL7A1, the gene that encodes type VII collagen, lead to blistering with resultant wounds and scarring. Treatment approaches have included tissue-, cell-, and gene-based therapies, including recent efforts at bone marrow ablation and allogeneic stem cell transplantation (Wagner et al., 2010). Because a single gene defect is responsible for the disease manifestations, researchers have focused on the development of gene therapy approaches. Unfortunately, several problems have hampered clinical development of vector-based gene therapy for this disease, including low transfer efficacy and the large size of the COL7A1 cDNA (Goto et al., 2006). In a previous study, a COL7A1 “minigene” that encoded a truncated type VII collagen was developed. This minigene was compatible size-wise with retroviral vectors and reversed the DEB phenotype to normal in transduced keratinocytes (Chen et al., 2000). An alternative to retroviral gene therapy is trans-splicing, an approach that employs the cell spliceosome to recombine an endogenous target pre-mRNA and an exogenously delivered RNA molecule called the pre-transsplicing molecule (PTM). A partial, wild-type coding sequence from the PTM is inserted to replace disease-causing sequences in order to generate a new, reprogrammed wild-type mRNA to correct the disease phenotype (Wally et al., 2008). In this issue, Murauer et al. report on their efforts with trans-splicing techniques to create a potential therapy for RDEB. These investigators introduced a partial, wild-type COL7A1 PTM via retroviral transduction of RDEB keratinocytes and achieved full-length type VII collagen expression. Transduced cells displayed functional correction of the RDEB phenotype, including normal morphology, reduced invasive capacity, normal localization of type VII collagen at the basement membrane, and assembly of collagen into anchoring fibril-like structures. Through the following questions, we examine this paper in greater detail. For brief answers, please refer to the supplementary information online

Effects of Pollution on Skin Aging

Every day, patients ask dermatologists for ways to prevent looking old because visible signs of aging are a major concern for many people. In support of such a notion, the current worldwide market for cosmetic and medical products devoted to the prevention and treatment of skin aging is

Ex vivo dermatoscopy of scalp specimens and slides

15 billion (Yarosh, 2008). Discussions of the prevention of skin aging typically focus on the role of sunlight and smoking because solar radiation and tobacco play major roles, although the exact pathogenesis of extrinsic skin aging is not fully understood (Schroder et al., 2006). Discussions about skin aging may change, however, based on work described by Vierkotter et al. in this issue. This article provides evidence that ambient particulate matter (PM) affects skin aging. The authors studied 400 elderly white, northern European women and, using a modified SCINEXA—a validated scoring system for intrinsic and extrinsic aging—found that air pollution exposure contributed to extrinsic aging, in particular, to pigment spot development. Using a cross-sectional design, Vierkotter et al. (2010, this issue) assessed clinical signs of skin aging, including pigment spots, coarse wrinkles, solar elastosis, and telangiectasias, to determine the effects of exposure to PM on extrinsic skin aging. Controlling for potential confounding variables such as age, body mass index, use of hormone replacement therapy, smoking history, Fitzpatrick skin type, history of sunburns, and sun-bed usage, the investigators found that airborne particles contributed to signs of extrinsic aging. In addition, they observed a larger number of lentigines in groups of patients with a higher level of PM exposure. These results suggest other approaches to the prevention of skin aging. Through the following questions, we examine this paper in greater detail. For brief answers, please refer to the supplementary information online

Commentary on Frequency of Malignant Neoplasms in 257 Chronic Leg Ulcers

Correct evaluation of horizontal scalp biopsies requires accurate gross sectioning and embedding of the tissue. The most common issue during processing includes incorrect specimen bisection.

A Case of Palmoplantar Pustulosis Induced by Certolizumab Pegol: New Anti-TNF-alpha Demonstrates the Same Class Effect

We read with interest the article by Misciali et al. In the United States alone, venous leg ulcers have been estimated to cause the loss of 2 million working days and incur treatment costs of approximately

Sister Mary joseph nodule as a presenting sign of pancreatobiliary adenocarcinoma.

3 billion per year. More than 90% of all chronic wounds fall into three categories— venous leg ulcers, pressure sores, and diabetic ulcers —but there is a subset of chronic leg ulcers that do not improve with adequate treatment over time and therefore should be investigated for the presence of a neoplasm masquerading as a nonhealing leg ulcer. This is particularly true for any ulcer that starts to change suddenly or develop any of the following patterns: an exophytic mass, irregularities in the ulcer bed, or a “rolling up” of the edge of the ulcer. Other clinical features suggestive of a malignant process arising within an ulcer are abnormal granulation tissue, protracted course of the ulcer despite appropriate treatment, spreading of the ulcer, extensive granulation tissue at the wound edges, unusual pain, and abnormal bleeding. Misciali and colleagues have noted that absence of vascular insufficiency (arterial, venous, and microcirculatory) in a chronic leg ulcer should raise suspicion of underlying malignancy.