The Dermatology Branch consultation service evaluated 1800 patients in 2004. All patients evaluated are enrolled in active NIH clinical research protocols. Many patients present with protocol-associated cutaneous problems caused by drugs or other interventions. For other patients, cutaneous manifestations are syndromic or disease-associated. Rarely, patients exhibit acute exacerbations of skin diseases 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.Collaborative clinical research is extremely active by virtue of the busy consultation service. Although most projects currently involve me,predominantly, Dr. Cowen will become increasingly involved now that he shares supervisory responsibility for consultations. 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, Fanconi's 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 (Job's 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 development and operation of a multidisciplinary chronic GVHD consortium not only within NCI but nationally. This involvement has made obvious the lack of reproducible and validated assessment tools that 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. Hwang's and my participation in a multidisciplinary CTCL interest group has led to similar conclusions regarding the lack of assessment tools. We are in the process of developing such tools that will allow quantification of extent and severity of cutaneous disease in both patient populations, emphasizing tools that 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 initiated a study to determine if serum proteomic signatures can be identified in patients who have tumor stage CTCL (03-C-0228)
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