Seminars in cutaneous medicine and surgery

Publications in this journal

• Article: Molecular Platforms Utilized to Detect BRAF V600E Mutation in Melanoma.

  Jonathan L Curry, Carlos A Torres-Cabala, Michael T Tetzlaff, Christopher Bowman, Victor G Prieto
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  ABSTRACT: Metastatic melanoma (MM) is a deadly skin disease refractory to standard chemotherapy. Despite numerous clinical and pathological parameters derived to guide patient management, clinical outcomes in melanoma patients remain difficult to predict. There is a critical need to delineate the important biomarkers typical of this disease. These biomarkers will ideally illuminate those key biochemical pathways responsible for the aggressive behavior of melanoma and, in the process, unveil new opportunities for the design of rational therapeutic interventions in high-risk patients. The most common recurring mutation in cutaneous melanoma is the prooncogenic BRAF V600E mutation that drives melanoma cell proliferation. The development of RAF inhibitors targeted against BRAF V600E mutant melanoma cells has revolutionized the treatment of MM. Clinical trials with BRAF inhibitor vemurafenib have shown objective clinical response and improved survival in patients with MM; therefore, knowledge of the molecular signature of melanoma in patients will be important in directing management decisions. Several molecular platforms exist to analyze the mutation status of melanoma. These include Sanger sequencing, pyrosequencing, allele-specific reverse transcriptase polymerase chain reaction, mass spectrometry base sequencing (Sequenom), high-resolution melting curve analysis, and next-generation sequencing methods using microfluidics technology. The Food and Drug Administration has approved the cobas BRAF V600 Mutation Test developed by Roche to analyze BRAF mutation status in formalin-fixed paraffin-embedded tumor samples. The cobas Mutation Test has been designed specifically to detect BRAF V600E mutations, and the analytic performance of this assay has demonstrated >99% sensitivity in the detection of BRAF V600E mutation when compared with the Sanger sequencing method and confirmed with the next-generation sequencing 454-pyrosequencing technology. The lower limit of detection of the percentage of mutant alleles in a tissue sample for the cobas test is less than 4%-5%. Some cross-reactivity with other variants of mutant BRAF was seen with the cobas V600 platform; however, this clinical test offers highly sensitive reproducible BRAF V600E mutation analysis in formalin-fixed paraffin-embedded tumor samples.
  Seminars in cutaneous medicine and surgery 12/2012; 31(4):267-73.
• Article: Molecular diagnostics for ambiguous melanocytic tumors.

  Hilmy Shahbain, Chelsea Cooper, Pedram Gerami
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  ABSTRACT: Certain subsets of melanocytic neoplasms are difficult to classify because of conflicting histologic features and the existence of a poorly defined intermediate grade of melanocytic tumors. The integration of molecular diagnostic information with a histologic impression may contribute significantly toward improving classification. This review discusses the development of and advances in molecular techniques, including comparative genomic hybridization and fluorescence in situ hybridization (FISH) as diagnostic and prognostic tools for melanocytic neoplasms. Further, we discuss how specific molecular aberrations identified via FISH correlate with certain morphologies in melanocytic neoplasms. We also examine the prognostic value of FISH in intermediate-grade melanocytic tumors, particularly atypical Spitz tumors.
  Seminars in cutaneous medicine and surgery 12/2012; 31(4):274-8.
• Article: Polymerase chain reaction-based molecular diagnosis of cutaneous infections in dermatopathology.

  Brian L Swick
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  ABSTRACT: Conventional methods, including microscopy, culture, and serologic studies, are a mainstay in the diagnosis of cutaneous infection. However, owing to limitations associated with these techniques, such as low sensitivity for standard microscopy and in the case of culture delay in diagnosis, polymerase chain-reaction based molecular techniques have taken on an expanding role in the diagnosis of infectious processes in dermatopathology. In particular, these assays are a useful adjunct in the diagnosis of cutaneous tuberculosis, atypical mycobacterial infection, leprosy, Lyme disease, syphilis, rickettsioses, leishmaniasis, and some fungal and viral infections. Already in the case of tuberculosis and atypical mycobacterial infection, standardized polymerase chain-reaction assays are commonly used for diagnostic purposes. With time, additional molecular-based techniques will decrease in cost and gain increased standardization, thus delivering rapid diagnostic confirmation for many difficult-to-diagnose cutaneous infections from standard formalin-fixed paraffin-embedded tissue specimens.
  Seminars in cutaneous medicine and surgery 12/2012; 31(4):241-6.
• Article: Hereditary nonmelanoma skin cancer.

  Vasiliki Nikolaou, Alexander J Stratigos, Hensin Tsao
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  ABSTRACT: Cutaneous basal and squamous cell carcinomas are among the most frequent malignancies in the white population, with the annual incidence estimates ranging from 1 million to 3.5 million cases in the United States. These tumors can occur either sporadically or in the context of hereditary genodermatoses with cancer predisposition, such as basal cell nevus syndrome, xeroderma pigmentosum, epidermolysis bullosa, or oculocutaneous albinism. Different genes and signaling pathways have been shown to play a central role in the development and growth of these tumors. This article overviews the clinical features, diagnostic criteria, and the most recent data on genetic routes of the major hereditary syndromes predisposed to the development of nonmelanoma skin cancer.
  Seminars in cutaneous medicine and surgery 12/2012; 31(4):204-10.
• Article: Molecular diagnosis of infection-related cancers in dermatopathology.

  Melissa Pulitzer
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  ABSTRACT: The association between viruses and skin cancer is increasingly recognized in a number of neoplasms, that is, cutaneous squamous cell carcinoma, Kaposi sarcoma, nasopharyngeal carcinoma, and Merkel cell carcinoma, as well as hematolymphoid malignancies such as adult T-cell leukemia/lymphoma and NK/T-cell lymphoma (nasal type) and post-transplant lymphoproliferative disorders. Molecular assays are increasingly used to diagnose and manage these diseases. In this review, molecular features of tumor viruses and related host responses are explored. The tests used to identify such features are summarized. Evaluation of the utility of these assays for diagnosis and/or management of specific tumor types is presented.
  Seminars in cutaneous medicine and surgery 12/2012; 31(4):247-57.
• Article: Update on the genetics of androgenetic alopecia, female pattern hair loss, and alopecia areata: implications for molecular diagnostic testing.

  Pedram Yazdan
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  ABSTRACT: Androgenetic alopecia, female pattern hair loss, and alopecia areata are among the most common forms of nonscarring hair loss encountered in clinical practice. Although the exact pathogenesis of these forms of alopecia remains to be clarified, genetic factors appear to have a significant contribution to their pathogenesis. Current treatment strategies are limited and their effectiveness remains modest at best. This review summarizes the current purported pathogenesis and recent genetic discoveries relating to these forms of alopecia. The role of molecular diagnostic testing is also discussed in relation to its future clinical utility for the prediction of developing hair loss, the diagnosis of the type of alopecia, prediction of disease severity, development of novel therapeutic and preventative targeted treatments, as well as determination of response to therapy.
  Seminars in cutaneous medicine and surgery 12/2012; 31(4):258-66.
• Article: Molecular diagnostics in genodermatoses.

  Julie V Schaffer
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  ABSTRACT: In recent years, there has been tremendous progress in elucidating the molecular bases of genodermatoses. The interface between genetics and dermatology has broadened with the identification of "new" heritable disorders, improved recognition of phenotypic spectrums, and integration of molecular and clinical data to simplify disease categorization and highlight relationships between conditions. With the advent of next-generation sequencing and other technological advances, dermatologists have promising new tools for diagnosis of genodermatoses. This article first addresses phenotypic characterization and classification with the use of online databases, considering concepts of clinical and genetic heterogeneity. Indications for genetic testing related to medical care and patient/family decision making are discussed. Standard genetic testing is reviewed, including resources for finding specialized laboratories, methods of gene analysis, and patient/family counseling. The benefits and challenges associated with multigene panels, array-based analysis (eg, copy number variation, linkage, and homozygosity), and whole-exome or whole-genome sequencing are then examined. Specific issues relating to molecular analysis of mosaic skin conditions and prenatal/preimplantation diagnosis are also presented. Use of the modern molecular diagnostics described herein enhance our ability to counsel, monitor, and treat patients and families affected by genodermatoses, with broader benefits of providing insights into cutaneous physiology and multifactorial skin disorders.
  Seminars in cutaneous medicine and surgery 12/2012; 31(4):211-20.
• Article: The role of molecular analysis in cutaneous lymphomas.

  Janyana M D Deonizio, Joan Guitart
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  ABSTRACT: The purpose of this review is to summarize the most important molecular techniques for the diagnosis of cutaneous lymphomas. When making a diagnosis, we are looking for the solid clinicopathological correlation. Molecular analysis includes immunophenotyping and clonality analysis, and is important for 2 principal reasons: (1) to confirm the diagnosis in cases where the clinical and/or pathological presentations are nondiagnostic, and (2) to further characterize the nature of the lymphoma. More specifically, we are trying to discern whether the lymphoma is primarily cutaneous or systemic with secondary skin involvement, and we are also attempting to subclassify the tumor. Recently, many techniques have provided a more accurate diagnosis of cutaneous lymphomas and some prognostic implications, including polymerase chain reaction, fluorescence in situ hybridization, and flow cytometry. Fluorescence in situ hybridization is not routinely used in the diagnosis of cutaneous lymphoma, but many studies have shown potential future applications in various areas. Other techniques, such as comparative genomic hybridization, are still confined to the research arena, but have added some insight into the molecular pathogenesis of cutaneous T-cell lymphoma.
  Seminars in cutaneous medicine and surgery 12/2012; 31(4):234-40.
• Article: Special requirements for electronic health records in dermatology.

  Mark D Kaufmann, Shraddha Desai
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  ABSTRACT: Government incentives and mandates to increase the meaningful use of electronic health records (EHR), with subsequent disincentives by Medicare, have made a significant push for dermatologists to adopt this technology into their practices. EHRs were originally developed for primary care physicians; however, owing to the unique features of dermatology, specialty-specific systems are a must. In this article, we discuss the special needs of dermatologists when choosing an EHR system.
  Seminars in cutaneous medicine and surgery 09/2012; 31(3):160-2.
• Article: Social media in dermatology: moving to Web 2.0.

  Robin L Travers
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  ABSTRACT: Patient use of social media platforms for accessing medical information has accelerated in parallel with overall use of the Internet. Dermatologists must keep pace with our patients' use of these media through either passive or active means are outlined in detail for 4 specific social media outlets. A 5-step plan for active engagement in social media applications is presented. Implications for medical professionalism, Health Insurance Portability and Accountability Act compliance, and crisis management are discussed.
  Seminars in cutaneous medicine and surgery 09/2012; 31(3):168-73.
• Article: Dermatology resources on the internet.

  Dean D George, Brent D Wainwright
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  ABSTRACT: Both patients and medical professionals are increasingly accessing the Internet for health information. Today's Web enables features that facilitate information sharing in a social and collaborative manner, thus transforming the way we access data and communicate with our patients and colleagues. The visual nature of the field of dermatology lends itself to the use of the Internet for reference and educational purposes. To generate a list of Web sites commonly used by academic dermatologists, the authors polled the Accreditation Council for Graduate Medical Education Dermatology Program Directors for their top 3 Web resources. The purpose of this article is to identify resources used by dermatologists as well as patients and examine factors that can influence Internet search results. Concerns regarding professionalism in the era of social media are also explored. As the volume of health information on the Internet continues to increase, it is essential for physicians to be aware of what is available in cyberspace. Reference and learning tools for the physician, learning and support tools for the patient, and physician Internet presence are key aspects of modern dermatology practice.
  Seminars in cutaneous medicine and surgery 09/2012; 31(3):183-90.
• Article: Mobile applications for dermatology.

  Michael Deveau, Suneel Chilukuri
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  ABSTRACT: The number of available mobile applications has increased by 500% over the past 3 years. Searching for useful dermatology applications may be overwhelming. The following summary may help both advanced and budding dermatologists select useful programs.
  Seminars in cutaneous medicine and surgery 09/2012; 31(3):174-82.
• Article: Treatment strategies for atopic dermatitis: optimizing the available therapeutic options.

  Amy S Paller, Eric L Simpson, Lawrence F Eichenfield, Charles N Ellis, Anthony J Mancini
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  ABSTRACT: Bathing and moisturization to control dryness, applications of topical anti-inflammatory agents (including corticosteroids and calcineurin inhibitors [TCIs]) to control flares, minimization of the risk for infection, and relief of pruritus are the cornerstones of effective therapy for atopic dermatitis. Education of parents and patients is crucial to enhance adherence. Strategies for reduced Staphylococcus aureus colonization may help control re-emergence of flares following cessation of antimicrobial treatment for infection; these include dilute bleach baths and minimizing the risk for contamination of topical agents. In severe, refractory cases, more aggressive therapy with systemic immunosuppressants may be considered, but appropriate laboratory testing must be included as part of patient monitoring during treatment. The value of adjuvant therapy with wet wraps to "cool down" particularly erythematous and pruritic flares is becoming increasingly recognized.
  Seminars in cutaneous medicine and surgery 09/2012; 31(3 Suppl):S10-7.
• Article: Improving the patient-clinician and parent-clinician partnership in atopic dermatitis management.

  Anthony J Mancini, Amy S Paller, Eric L Simpson, Charles N Ellis, Lawrence F Eichenfield
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  ABSTRACT: Long-term adherence to carefully developed, individualized strategies is necessary for the optimum treatment outcomes in patients with atopic dermatitis (AD). However, the parents of children with AD frequently lack sufficient information about the disease and its treatment, hold incorrect and sometimes harmful beliefs about these issues, and too often do not follow through consistently with the treatment plan. The health care provider is the primary source of such education, so an effective provider relationship is fundamental to adherence. In addition to the provision of correct information and the correction of misinformation, clinicians must be aware of and must address barriers to adherence with AD therapy, especially parent anxiety about the safety of topical medications (corticosteroids and topical calcineurin inhibitors).
  Seminars in cutaneous medicine and surgery 09/2012; 31(3 Suppl):S23-8.
• Article: Atopic dermatitis: epidemiology and pathogenesis update.

  Lawrence F Eichenfield, Charles N Ellis, Anthony J Mancini, Amy S Paller, Eric L Simpson
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  ABSTRACT: The prevalence of atopic dermatitis (AD) has increased markedly in the United States over the past 5 decades, with current reports varying from 10% to 20% prevalence in US children, and new diagnoses are estimated at almost 11% per year. Recent research in AD pathophysiology and pathogenesis has demonstrated that AD is associated with epidermal barrier dysfunction and that mutations in the filaggrin gene are implicated in barrier defects. These discoveries hold promise for future breakthroughs in the diagnosis and management of AD.
  Seminars in cutaneous medicine and surgery 09/2012; 31(3 Suppl):S3-5.
• Article: Decision support in dermatology and medicine: history and recent developments.

  Art Papier
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  ABSTRACT: This article is focused on diagnostic decision support tools and will provide a brief history of clinical decision support (CDS), examine the components of CDS and its associated terminology, and discuss recent developments in the use and application of CDS systems, particularly in the field of dermatology. For this article, we use CDS to mean an interactive system allowing input of patient-specific information and providing customized medical knowledge-based results via automated reasoning, for example, a set of rules and/or an underlying logic, and associations.
  Seminars in cutaneous medicine and surgery 09/2012; 31(3):153-9.
• Article: Understanding and managing atopic dermatitis in adult patients.

  Charles N Ellis, Anthony J Mancini, Amy S Paller, Eric L Simpson, Lawrence F Eichenfield
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  ABSTRACT: Atopic dermatitis (AD) in adults is an important dermatologic disease. Even in patients in whom the clinical presentation is mild, the burden of disease can be considerable. Relatively little has been published on adult AD compared to the body of literature devoted to AD in children, although adults with severe AD are greatly affected by the disease. Even when AD is a mild clinical disease in adults, the psychosocial and economic burden of the disease can be profound. Patients are likely to find it useful if these nondermatologic comorbidities of AD are addressed by health care providers in clinical encounters. The treatment options for AD in adults are the same as those for children with AD, with some modifications.
  Seminars in cutaneous medicine and surgery 09/2012; 31(3 Suppl):S18-22.
• Article: Clinical photography in the dermatology practice.

  William K Witmer, Peter J Lebovitz
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  ABSTRACT: Photography has been accepted for decades as a standard means for documenting dermatologic conditions and as an adjunct to their treatment, in both medical practice and research. The emergence of low-cost easy-to-use digital imaging systems has made good-quality photography more accessible to practitioners, while providing improved functionality in the clinical environment. Primary concerns are controlling lighting and positioning to provide a clear record of the patients skin condition and maintaining consistency over time to assure meaningful comparison of clinical end points.
  Seminars in cutaneous medicine and surgery 09/2012; 31(3):191-9.
• Article: YouTube and the expanding role of videos in dermatologic surgery education.

  Komal D Koya, Kyle R Bhatia, Jeffrey T S Hsu, Ashish C Bhatia
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  ABSTRACT: Video is an excellent medium for medical education, both for clinicians and for the public. YouTube has emerged as one of the largest sources of freely accessible content. It is our intent to provide a preliminary discussion of the growing role of videos in medical education, sources of this video content, and the format of surgical video content on YouTube. Additionally, we will highlight the limitations and pitfalls that clinicians and the public should be aware of when viewing online video content. Several sources of both patient- and clinician-directed videos are easily accessible from the Internet and DVDs today. Medical professionals, students, and patients now have mobiles and instantaneous access to a growing collection of video content. A brief list of online video sources to view and learn dermatologic surgical techniques is provided. Given the increasing ease of creating and posting high-quality video content, this list will continue to grow, providing dermatologic surgeons with an ever-increasing wealth of visual knowledge. Although YouTube is a dominant source of publicly accessible videos, clinicians and consumers should be aware of the source and intent of the video content before accepting the content. Although it is easy to post content on YouTube, it is difficult to verify sources and the credentials of the people posting the videos. Therefore, the viewer should filter content with a discerning eye, embracing the concept of caveat emptor--or buyer beware.
  Seminars in cutaneous medicine and surgery 09/2012; 31(3):163-7.