ZID BC 011317 (ZID) | |||
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Title | Dermatology Consultation Service | ||
Institution | NCI, Bethesda, MD | ||
Principal Investigator | Cowen, Edward | NCI Program Director | N/A |
Cancer Activity | N/A | Division | CCR |
Funded Amount | $326,441 | Project Dates | 10/01/2009 - 00/00/0000 |
Fiscal Year | 2014 | Project Type | Intramural |
Research Topics w/ Percent Relevance | Cancer Types w/ Percent Relevance | ||
Bone Marrow Transplantation (25.0%) Cancer (100.0%) Childhood Cancers (10.0%) |
Childhood Leukemia (10.0%) Hodgkins disease (30.0%) Leukemia (10.0%) Non Hodgkins Lymphoma (30.0%) |
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Research Type | |||
Localized Therapies - Clinical Applications Systemic Therapies - Clinical Applications |
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Abstract | |||
The Consult Service Staff consists of myself, Dr. John DiGiovanna, and a Nurse Practitioner, Olanda Hathaway, who joined the Branch in 2011. As mentioned above, providing clinical expertise in the assessment and management of the cutaneous disease is a highly valued service to the NIH community which was recognized by the NIH Director's Award in 2007. In addition to seeing patients in Consultation, I am an Associate Investigator on several other protocols initiated by other branches as well as a Principal Investigator on three therapeutic protocols (to be discussed separately). The current non-Dermatology Branch protocols in which I am an Associate Investigator include Natural History of GVHD; Reduced intensity transplants for malignant lymphomas/leukemias; Immune-depleting therapy and reduced intensity transplant using unrelated donors; Allogeneic transplant for DOCK8 Immunodeficiency; Pomalidomide for chronic GVHD; Phase II Montelukast for bronchiolitis obliterans; Sirolimus for Cowdens disease; Erlotinib and bevacizumab for renal cell carcinoma; Natural history of auto-inflammatory diseases; Anakinra for Behcet's disease; Rilonacept for deficiency of the IL-1 antagonist. The chronic graft versus host disease (GVHD) collaborative effort is a major multidisciplinary collaboration with several NCI and non-NCI investigators studying the Natural history of GVHD. Based on my experience with this group, I have published several text chapters and clinical manuscripts on cutaneous GVHD and have been honored to lecture to various groups around the country (Harvard, Tufts, U. of Pennsylvania, the American Academy of Dermatology, regional dermatologic societies, and the World Congress of Dermatology.) Collaborative clinical research is extremely active via the busy consultation service. 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 and assessing responses to treatment in patients with PAPA syndrome, Behcets and deficiency of IL-1 receptor antagonist (DIRA). I am Principal Investigator on three protocols: Botulinum toxin for painful leiomyomas (09-C-0072), imatinib mesylate (08-C-0148) for the treatment of sclerotic chronic GVHD, and anakinra for neutrophilic pustular skin disease (13-C-0071). Cutaneous leiomyomas are benign tumors thought to arise from the arrector pili muscle. They may occur as isolated papules, or present as grouped lesions over areas of the body, including the back and extensor surfaces. Individual lesions often range from 5mm to 1cm in size, but can be as large as a few cm in diameter. Cutaneous leiomyomas have been associated with a dominantly inherited cancer-related genodermatosis, hereditary leiomyomatosis and renal cell cancer (HLRCC), which is caused by a mutation in the fumarate hydratase gene. HLRCC is characterized by cutaneous and (in females) uterine leiomyoma formation as well as an increased risk of renal cell cancer. Patients with HLRCC may present with isolated cutaneous lesions, regional areas of involvement, or diffuse leiomyoma formation. Both sporadically occurring and HLRCC-related cutaneous leiomyomas are often painful. In some cases, severe paroxysmal pain may be elicited by stimuli as innocuous as pressure or a change in ambient temperature. Cold-induced pain in cutaneous leiomyomas can be reproduced in a standardized setting with application of an ice cube.1 For patients with symptomatic cutaneous leiomyomas, the pain may be severe enough that patients contemplate suicide. The etiology of the pain symptoms is poorly understood, but the episodic, intense nature of the pain and reported response in some patients to neuroactive agents suggests that manipulation of the nerve conduction pathways may ameliorate pain. The arre" |