An international collaboration of scientists, including researchers at the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), a part of the National Institutes of Health, has identified a genetic mutation that causes a rare childhood disease characterized predominantly by inflammation and fat loss. The research suggests that the disorder, named chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE), actually represents a spectrum of diseases that have been described in the literature under a variety of names. More importantly, since no effective treatment for this disease currently exists, the findings may have uncovered a possible target for future treatments.
The collaboration began when NIAMS rheumatologist Raphaela Goldbach-Mansky, M.D., started seeking the cause of inflammatory skin lesions, fat loss and fevers in two of her young patients. At a scientific meeting, she learned about recent publications by two other research groups one led by dermatologists Antonio Torrelo, M.D., from the Boy Jesus Hospital, Madrid, and Amy Paller, M.D., from Northwestern University, Chicago, and the other led by Abraham Zlotogorski, M.D., from the Hadassah-Hebrew University Medical Center, Jerusalem describing similar conditions. She immediately located the publications' authors and emailed them that same night.
"It turned out they had found each other and were looking for a genetic cause and additional cases," said Dr. Goldbach-Mansky. "I contacted them with a case report with pictures and they sent me theirs."
Based on the clinical presentation and, particularly, the unusual skin lesions seen in the children, the researchers suspected that the children must have the same disease. Subsequent analyses involving biopsies, blood tests and genetic testing confirmed their suspicions. All but one child had at least one mutation in a gene called PSMB8, which had been recently identi
|Contact: Trish Reynolds|
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases