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More than 65% of all cutaneous lymphomas are T-cell disorders. Cutaneous T-cell lymphomas (CTCL) represent a heterogeneous group of non-Hodgkin lymphomas that share the common feature of malignant T-cell infiltration of the skin (Table 10.1) [1, 2]. The most common forms of CTCL are mycosis fungoides (MF) and its leukemic counterpart Sézary syndrome (SS), accounting for ∼44% and ∼3% of cases, respectively...
Molecular techniques are being increasingly employed in the field of dermatology, significantly enhancing the management of cutaneous disorders. These applications have become important diagnostic tools, not only in the setting of genodermatoses, but also in a wide range of cutaneous malignancies and infectious diseases. In addition, molecular testing has been used to select treatment, assess therapeutic...
The diagnosis and classification of leukemia requires the integration of clinical features and light microscopic findings with the results of cytochemical, immunological (flow cytometry and/or immunohistochemistry), and molecular studies [1]. Immunophenotypic and genotypic technologies are commonly applied to peripheral blood (PB) and bone marrow (BM) specimens in the initial work-up and management...
The complete sequencing of the human genome has ushered in an era of medical advances that was previously unimaginable. Scientists are continually discovering novel genetic and epigenetic mechanisms that are associated with human disease states and therapeutic responses. The ability to determine the underlying defect(s) in single-gene (Mendelian) diseases, many of which are rare, has improved both...
The normal wound healing response can be divided into (1) inflammatory, (2) proliferative, and (3) tissue remodeling (i.e., fibroplasia and maturation) phases that involve complex interactions between various cutaneous-derived and inflammatory cells, cytokines, and the extracellular matrix (ECM) [1–6]. Numerous studies continue to uncover the genetic, epigenetic (i.e., microRNA), cellular (including...
The TNM staging categories and groupings of the updated 2009 American Joint Committee on Cancer (AJCC) Melanoma Staging System are outlined in Tables 6.1 and 6.2 [1]. “T ” parameters are defined by primary tumor thickness, ulceration, and mitotic status; “N” parameters by the number of lymph nodes with metastatic disease and extent of metastatic burden; and “M” parameters by the site(s) of the metastases...
There are many possible indications and potential uses for molecular diagnostic techniques in the evaluation and management of melanocytic neoplasms. These include: (a) the identification of better diagnostic, staging, and prognostic markers; (b) the discovery of novel therapeutic targets; (c) the development of a molecular classification scheme, with the potential to stratify melanomas into subtypes...
Technologies are being increasingly employed to identify the biological pathways, genes, and proteins involved in disease pathogenesis and progression. These investigations have uncovered diagnostic and prognostic biomarkers for a variety of cutaneous tumors. Molecular testing may have a role in the evaluation of tissue margins, clonal origin, and histogenesis of skin cancers.
Inflammatory disorders of the skin, including eczematous, psoriasiform, lichenoid-interface, autoimmune, and neutrophilic dermatoses, probably represent the group of cutaneous diseases in which molecular pathology currently has the least impact in daily clinical practice. Many of these diseases are readily diagnosed through the correlation of clinical features with histopathological findings on hematoxylin...
Identification of the pathogenic microbe is essential for selection of the most appropriate treatment in the majority of cutaneous infections. Historically, the diagnosis of cutaneous pathogens has been based on the results of immunological studies, lesional culture, and/or microscopic examination of tissue samples, in combination with histochemical stains (i.e., PAS, Gram) or immunohistochemical...
The past two decades have seen significant strides, not only in our understanding of the pathobiology of human skin aging, but also in the search for targeted modalities to treat or possibly prevent some of the changes that come with this process. Human skin aging can be categorized as either (a) chronologic/intrinsic aging or (b) extrinsic aging, of which photoaging is a major component [1–5].
Innovations in medical therapy have been associated with increasing life expectancy, improved quality of life, and with a decreasing need for hospitalizations and surgery. However, these benefits are not achieved without significant drawbacks. Medications are not completely safe and effective for everyone. Spear et al. [1] analyzed the efficacy of major drugs used to treat several important diseases...
Molecular Diagnostics in Dermatology and Dermatopathology presents the basics of molecular biology and molecular diagnostic methods most commonly used in the clinical laboratory, with an emphasis on the concepts and testing most relevant to dermatological diseases. Topics include the integration of newer diagnostic and prognostic techniques with ‘traditional’ histologic approaches, and discussions...
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