The Dermatology Branch consultation service evaluates and helps manage patients with cutaneous manifestations of their systemic diseases. We also evaluate and manage the cutaneous adverse reactions experienced by patients on experimental drugs or interventions that are associated with protocols within intramural NIH. Thus, we play an important role in the recognition of adverse reactions to new therapeutic agents and/or interventions differentiating these from manifestations of the diseases for which they are being treated. We aid other groups in the delineation of the cutaneous manifestations of the various herditary and/or syndromic conditions that are being intensively studied at the NIH. This is important in establishing the clinical phenotype of the syndromes under study. We are also at times, called upon to manage acute exacerbations of skin diseases in patieints that are not protocol-related. Most patients cared for by the consultation service have rare diseases and/or are participating in innovative Phase 1 or 2 trials. Thus, skin problems encountered in the clinic tend to be unusual and are often complicated. The clustering in time and the novelty of patients that are seen provide a rich and unique resource for both educational and clinical research endeavors. Dr. Cowen and I share coverage of the Consult Service equally. I directly supervise Dr. Kong in the phototoxicity and topical depsipeptide protocols. Collaborative clinical research is extremely active by virtue of the busy consultation service. Although most of the collaborative projects currently involve me, Dr. Cowen will become increasingly involved now that he shares in the coverage of the Consultation Service. Collaborative projects include continuing studies of cutaneous findings such as fibrofolliculomas and leiomyomas in patients with familial renal cell carcinoma. We are also characterizing cutaneous lesions that may be associated with several rare inherited bone marrow failure syndromes, including patients with Diamond-Blackfan, Fanconis anemia, and dyskeratosis congenita. We continue to study cutaneous manifestations and complications of therapy that are encountered in patients with primary immunodeficiencies such as chronic granulomatous disease, hyper-IgE syndrome (Jobs syndrome), and immunodeficiency related to mutations in the NEMO gene. The newly discovered mutations in pyrin genes in patients with several periodic fever syndromes, and the availability of biologic therapies that have efficacy in the resulting autoinflammatory diseases have introduced a new group of patients to the clinic. We are now systematically characterizing cutaneous manifestations in these patients and assessing responses to treatment. We are also evaluating the relationship between panniculitis and calcium deposition in patients with juvenile dermatomyosistis and assessing the benefit of intensive systemic therapy in the prevention of smoldering muscle disease and eventual calcification. Dr. Cowen and I are actively involved in the continuing operation of the multidisciplinary chronic graft versus host disease (GVHD) consortium not only within NCI but nationally. We have devised and propagated the use of an instrument meant to characterize and measure skin involvement in GVHD. This assessment tool can be used to measure extent and progression/regression of cutaneous disease and response to therapy. Only lately has it been recognized that chronic GVHD results in significant involvement in the female genital tract. My expertise in vulvovaginal diseases has enabled me to study the manifestations and treatment of vulvovginal GVHD. Dr. Hwangs and my participation in a multidisciplinary cutaneous T-cell lymphoma (CTCL) interest group has led to similar conclusions regarding the lack of assessment tools. We are in the process of assessing the usefulness of the current tool that we have been using for several years. In particular, we will try to determine which portions of the current assessment tool can simplified so that they can be utilized by non-dermatologists as well as dermatologists and that will be embraced and implemented by extramural investigators participating in multi-center trials. Dermatology Branch-initiated projects are spearheaded by Branch principal investigators. Dr. Hwang is evaluating CTCL patients via a protocol entitled Pathogenesis and course of cutaneous T-cell lymphoma (04-C-0081). Drs. Hwang and Cowen have determined that serum proteomic signatures can be identified in patients who have tumor stage CTCL (03-C-0228). Their paper was published recently and can be seen in the list of publications. Dr. Jonathan Vogel and I collaborated on on the assessment of wavelength-dependence of erythemogenic solar simulator-derived UV radiation on gene expression profiles in skin of normal human volunteers (04-C-0120B). The manuscript is in preparation. As a sequel to the study aimed at the determination of the gene expression profile following exposure to a solar simulator, Dr. Kong and I have just started recruitment for another study, to determine the gene expression profile of skin exposed to a solar simulator after ingesting a drug (doxicycline) that increases sensitivity to sunburn. Another arm of this study explores pharmacogenetics, that is, the relationship of drug metabolism to genetic background and how this, specifically impacts on the occurrence of a phototoxic drug reaction to an important systemic antifungal agent, voriconazole. Our newest protocol is a pilot study aimed at determination of toxicity of a novel topical therapy for early CTCL. CTCL is a relatively rare disease but it has a long cutaneous phase for which effective topical therapy is not available. Also new this year is my participation in the Human Microbiome Project (HMP) which aims to establish a library of the bacteria present on various parts of the human body, in normal individuals. This initiative is part of the NIH Roadmap and the skin will be one of the 5 organs that will be studied. There are many clinical indications that resident microbes play a major role in the initiation or perpetuation of certain diseases. Establishment of this library will then allow comparisons to be made between the microbial flora in those diseases versus that in normals. In collaboration with Dr. Julie Segre of NHGRI, we are about to present a protocol that will explore the microbial flora in atopic dermatitis (AD). AD is a fairly prevalent skin disease that appears to be exacerbated and perpetuated by the presence of staphylococcus aureus (staph a)on the skin. It also is calmed by the administration of antibiotics. How this interrelationship works and how it can be altered without the need for long-term antibiotic therapy are just some of the questions that we intend to pursue. In the future, we plan to explore why patients with late CTCL are subject to skin staph a infections such that it is a very common if not the most common cause their death

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Kong, Heidi H; Cowen, Edward W; Azad, Nilofer S et al. (2007) Keratoacanthomas associated with sorafenib therapy. J Am Acad Dermatol 56:171-2
Ehrlich, Alison; Koch, Troy; Amin, Bijal et al. (2006) Development and reliability testing of a standardized questionnaire to assess psoriasis phenotype. J Am Acad Dermatol 54:987.e1-14
Wei, M-H; Toure, O; Glenn, G M et al. (2006) Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. J Med Genet 43:18-27
Kimball, Alexa Boer; Ehrlich, Alison; Lawrence, Reva C et al. (2006) Validating standardized acquisition of digital dermatologic images for use in the national health and nutrition examination survey. Arch Dermatol 142:110-2
Jacob, Sharon E; Cowen, Edward W; Goldbach-Mansky, Raphaela et al. (2006) A recurrent rash with fever and arthropathy. J Am Acad Dermatol 54:318-21
Goldbach-Mansky, Raphaela; Dailey, Natalie J; Canna, Scott W et al. (2006) Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med 355:581-92
Shulman, Howard M; Kleiner, David; Lee, Stephanie J et al. (2006) Histopathologic diagnosis of chronic graft-versus-host disease: National Institutes of Health Consensus Development Project on Criteria for Clinical Trials in Chronic Graft-versus-Host Disease: II. Pathology Working Group Report. Biol Blood Marrow Transplant 12:31-47
Pavletic, Steven Z; Martin, Paul; Lee, Stephanie J et al. (2006) Measuring therapeutic response in chronic graft-versus-host disease: National Institutes of Health Consensus Development Project on Criteria for Clinical Trials in Chronic Graft-versus-Host Disease: IV. Response Criteria Working Group report. Biol Blood Marrow Transplant 12:252-66
Filipovich, Alexandra H; Weisdorf, Daniel; Pavletic, Steven et al. (2005) National Institutes of Health consensus development project on criteria for clinical trials in chronic graft-versus-host disease: I. Diagnosis and staging working group report. Biol Blood Marrow Transplant 11:945-56
Schmidt, Laura S; Nickerson, Michael L; Warren, Michelle B et al. (2005) Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome. Am J Hum Genet 76:1023-33

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