Rosai-Dorfman Disease of Bone and Soft Tissue

Abstract

Context.— Rosai-Dorfman disease is a rare histiocytic proliferative disorder of unknown pathogenesis that may be diagnostically difficult in extranodal sites. It is commonly an unsuspected diagnosis when arising in bone and soft tissue, especially when it presents without associated lymphadenopathy. Its variable clinical presentation and nonspecific imaging findings make the diagnosis quite challenging, particularly in small biopsies. The problem is compounded by its less-characteristic histomorphologic features in comparison with nodal disease. Awareness of the potential diagnostic pitfalls in Rosai-Dorfman disease of bone and soft tissue should raise the degree of diagnostic accuracy. Objective.— To review the clinical manifestations, imaging characteristics, and histomorphologic features of Rosai-Dorfman disease of bone and soft tissue along with a brief discussion of its differential diagnosis, pathogenesis, and current management. Data Sources.— Thorough review of the literature with focus on clinical manifestations, imaging findings, key histomorphologic features, pathogenesis, and treatment. Conclusions.— The diagnosis of Rosai-Dorfman disease of bone and soft tissue may be quite challenging because of its variable clinical presentation and nonspecific imaging findings. It may be asymptomatic without systemic manifestations or associated lymphadenopathy. The definitive diagnosis relies on histopathologic identification of the characteristic S-100–positive histiocytes demonstrating emperipolesis. Bone and soft tissue lesions tend to have lower numbers of characteristic histiocytes and less conspicuous emperipolesis and often demonstrate areas of fibrosis or storiform spindle cell areas resembling fibrohistiocytic lesions. Awareness of these unusual features is necessary in order to consider Rosai-Dorfman disease in the differential diagnosis when confronting these rare and often misleading lesions.

Bilateral breast Rosai‐Dorfman disease screen detected by mammography

“…Rosai-Dorfman disease (RDD) or sinus histiocytosis with massive lymphadenopathy is a proliferative disorder of histiocytes of uncertain pathogenesis typically found in nodal and, less commonly, in extra-nodal sites such as the skin, subcutaneous tissue, bone, central nervous system, breast, thyroid, and mesentery. 1 The disease has a female predilection with presenting symptoms including fever, lymphadenopathy, elevated erythrocyte sedimentation rate, leukocytosis, weight loss, polyclonal hypergammaglobulinemia, and anemia. 1 The etiology is still unknown, but theories suggest an immune regulation disorder or infections such as Herpes virus, Epstein-Barr virus, Cytomegalovirus, Varicella Zoster virus, or HIV.…”

“…1 The disease has a female predilection with presenting symptoms including fever, lymphadenopathy, elevated erythrocyte sedimentation rate, leukocytosis, weight loss, polyclonal hypergammaglobulinemia, and anemia. 1 The etiology is still unknown, but theories suggest an immune regulation disorder or infections such as Herpes virus, Epstein-Barr virus, Cytomegalovirus, Varicella Zoster virus, or HIV. 2 The histological appearance is similar regardless of the site of occurrence with the extra-nodal lesions demonstrating more fibrosis.…”

“…Rosai‐Dorfman disease (RDD) or sinus histiocytosis with massive lymphadenopathy is a proliferative disorder of histiocytes of uncertain pathogenesis typically found in nodal and, less commonly, in extra‐nodal sites such as the skin, subcutaneous tissue, bone, central nervous system, breast, thyroid, and mesentery. 1 …”

Primary Bilateral Intraosseous Rosai-Dorfman Disease

“…4 Intraosseous RDD most frequently occurs in the craniofacial bones and long bones, with the proximal tibia being the most common location. 3,7 Radiologically, intraosseous RDD demonstrates lesions which are usually multifocal and lytic, with sclerotic margins. 7,8 Microscopically, it resembles nodal RDDexcept that intraosseous RDD is more likely to develop fibrosis, 6 and the classic finding of emperipolesis is less prominent.…”

“…3,7 Radiologically, intraosseous RDD demonstrates lesions which are usually multifocal and lytic, with sclerotic margins. 7,8 Microscopically, it resembles nodal RDDexcept that intraosseous RDD is more likely to develop fibrosis, 6 and the classic finding of emperipolesis is less prominent. 7 Additional distinguishing findings may include foamy macrophages, collections of neutrophils (which can mimic microabscesses), and spindled to storiform areas.…”