Investigation of the natural history and pathogenesis of skin diseases

National Institute Of Arthritis And Musculoskeletal And Skin Diseases

Investigators

Linked publications, trials & patents

Abstract

We continue to systematically investigate the natural history of various skin diseases to improve our understanding of the pathogenesis of these disorders in collaboration with investigators across the NIH Intramural Research Program. We retain a focus on studying patients with inflammatory skin diseases, including in patients with inborn errors of immunity such as DOCK8 deficiency, because the interaction of the immune system with this inflammatory skin disease may provide insights into understanding this chronic itchy skin condition. We also have worked with colleagues to study the skin diseases in patient populations such as GATA2 deficiency, WHIM (warts, hypogammaglobulinemia, infections, myelokathexis) syndrome, hypomorphic RAG deficiency, APECED (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy), familial cancer syndromes such as hereditary leiomyomatosis and renal cell cancer, and other new diseases that are being defined. We have continued to remain interested in the natural history of cutaneous adverse reactions including drug hypersensitivity syndromes, and have previously studied individuals with phototoxicity and microbiome changes related to doxycycline ingestion. In addition, we have previously worked and continue to work with oncology colleagues to optimally evaluate and treat cutaneous toxicities, to inform the research community of potentially newly described skin toxicities and methods for management.