Richard D. Sontheimer: “inveterate curiosity” is the fundamental character trait of a “doctors’ doctor”

Abstract

Despite occurrence over a small percentage of the population, rare diseases are often chronic and lifethreatening. Around five new rare diseases are described i n m e d i c a l l i t e r a t u r e e v e r y w e e k. T h e N a t i o n a l Institutes of Health (NIH) Genetic and Rare Diseases Information Center lists autoimmune connective tissue diseases (CTD) such as lupus erythematosus (LE) and the idiopathic inflammatory myopathies as rare diseases. People with CTD will generally survive for at least 10 years after diagnosis, yet some can have a much worse prognosis (1). Attention to the special challenges faced by patients with rare diseases such as LE and dermatomyositis (DM) is constantly sought by the medical world. However, the market for new drug development for rare diseases is smaller than that for more common disorders. Thus, rare diseases as a rule attract considerably less research funding than more common medical conditions. The skin is commonly targeted for autoimmune injury in both LE and DM. Psychosocially-and occupationallydisabling skin disease can result. Having been in the field of cutaneous manifestations of autoimmune CTD for over four decades, Dr. Richard D. Sontheimer from the Department of Dermatology at the University Utah Medical Center in Salt Lake City has been searching for ways to ease the pain of this particular group of patients, especially those with LE and DM. Annals of Translational Medicine (ATM) is honored to interview Dr. Sontheimer, acclaimed as one of the Best Doctors of America and America's Top Doctors, to share his insights into the current situation of his field, some recent breakthroughs in treating subacute cutaneous LE (SCLE), some recent research projects together with the findings and challenges encountered, and his genuine advice and encouragement to young physicians and researchers.