Abstract
Introduction: Erdheim-Chester disease (ECD) is a form of histiocytosis and a sporadic illness with diverse clinical manifestations. Although ~500 to 550 cases have been described in the literature, increased physician awareness has driven a dramatic increase in ECD diagnoses over the last decade. ECD frequently involves multiple organ systems and has historically lacked effective therapies.
Case Presentation: A 43-year-old male who had a familial background of autoimmune disorders, exhibited widespread skin manifestations and systemic manifestations that resulted in notable social and psychological distress.
Results: Despite the administration of extensive therapy with corticosteroids, cyclosporine, and thalidomide, the individual’s health status persisted in declining. Skin biopsy verified ECD diagnosis, but interferon α-2b treatment did not stop disease progression. Vemurafenib did not cause regression either. However, regular Interferon therapy and follow-ups reduced lesions by 30%-40% and improved social health and quality of life.
Conclusion: ECD should be included in the differential diagnosis of skin lesions, especially those with systemic symptoms, and regular follow-up, and consistent therapy may help manage this difficult condition.