NORD gratefully acknowledges Juan Rosai, MD, Pathology Cancer Center Clinics, Italian Diagnostic Center (CDI), Milan, Italy for assistance in the preparation of this report.
Rosai-Dorfman disease is a rare disorder characterized by overproduction (proliferation) and accumulation of a specific type of white blood cell (histiocyte) in the lymph nodes of the body (lymphadenopathy), most often those of the neck (cervical lymphadenopathy). In some cases, abnormal accumulation of histiocytes may occur in other areas of the body besides the lymph nodes (extranodal). These areas include the skin, central nervous system, kidney, and digestive tract. The symptoms and physical findings associated with Rosai-Dorfman disease vary depending upon the specific areas of the body that are affected. The disorder predominantly affects children, adolescents or young adults. The exact cause of Rosai-Dorfman disease is unknown.
The symptoms and physical findings associated with Rosai-Dorfman disease vary greatly from one person to another depending upon the extent of the disorder and the specific organ systems affected. Some cases may only affect the lymph nodes and may not cause any serious complications. Less often, some cases may affect various organ systems of the body and may potentially cause serious complications. Any organ system of the body may become affected.
In most cases, affected individuals exhibit painless swelling or enlargement of affected lymph nodes (lymphadenopathy), most often those of the neck (cervical lymphadenopathy). Many individuals with Rosai-Dorfman disease do not develop any additional symptoms of the disorder (asymptomatic).
In some cases, affected individual may experience nonspecific symptoms that are common to many different conditions including fever, paleness of the skin (pallor), unintended weight loss, a general feeling of ill health (malaise) and a chronically runny nose (rhinitis). In extremely rare cases, affected individuals may experience abnormal enlargement of the liver and/or spleen (hepatosplenomegaly).
In approximately 43 percent of cases, other areas of the body besides the lymph nodes may also be affected (extranodal). Some individuals may have extranodal disease without the presence of lymphadenopathy. The skin is the most common extranodal site. Skin lesions associated with Rosai-Dorfman disease are usually yellow or purple. A reddish rash-like inflammation of the skin (erythema), small solid elevations on the skin (papules), or knots visible under the skin (nodules) may be present. Skin lesions may occur anywhere on the body, but most often affect the head and neck. In some cases, skin abnormalities precede the development of lymphadenopathy.
The salivary glands, nasal cavity, upper respiratory tract, various bones, and the eyes and eye sockets (orbits) may also be affected. In rare cases, the central nervous system, digestive system, or the kidneys may be affected. Involvement of these areas may result in additional (secondary) symptoms. For example, loss of vision may occur secondary to the involvement of the eyes, and seizures may occur secondary to involvement of the central nervous system. In some cases of Rosai-Dorfman disease, the accumulation of histiocytes into masses may cause compression of vital organs potentially resulting in serious complications.
In some cases, the lymph nodes may not be affected. Instead a specific area of the body such as the skin, a solitary bone, or the central nervous system may be affected. These cases may be known as isolated Rosai-Dorfman disease. A distinct type of isolated Rosai-Dorfman disease has been identified called cutaneous Rosai-Dorfman disease, in which only the skin is affected. Initial reports indicate that cutaneous Rosai-Dorfman disease is more common in female adults.
The exact cause of Rosai-Dorfman disease is unknown (idiopathic), but it does not seem to be of neoplastic nature. Researchers have suggested that the disorder may be caused by an infectious agent, immunodeficiency, or autoimmunity.
Symptoms of Rosai-Dorfman disease develop due to the overproduction and accumulation of histiocytes in the channels (sinuses) that allow for the passage of lymph (sinus histiocytosis).
Some studies suggest that Rosai-Dorfman disease affects males more often than females. The disorder can affected individuals of any age, but most often affects young adults under the age of 20. Cutaneous Rosai-Dorfman disease occurs more often in females in their 20s or 30s. More than 650 cases have been reported in the medical literature since the disorder’s first description in the medical literature in 1969.
The diagnosis of Rosai-Dorfman disease may be confirmed by a thorough clinical evaluation, a detailed patient history and a variety of specialized tests, such as surgical removal and microscopic examination of affected tissue (biopsy).
In many cases, the symptoms of Rosai-Dorfman disease may disappear without treatment (spontaneous remission) within in months or a few years. Clinical observation without treatment is preferred for individuals with Rosai-Dorfman disease whenever possible. In many cases, no therapy will be necessary.
In some cases, various treatment options may become necessary. In these cases, the treatment of Rosai-Dorfman disease is directed toward the specific symptoms that are apparent in each individual. Several different treatment options have been used to treat individuals with Rosai-Dorfman disease including surgical removal of histiocytic lesions. In more serious cases, additional treatment options have included therapy with certain drugs including steroids (e.g., prednisone), alfa-interferon, and a regimen of certain anticancer drugs (chemotherapy). In some cases, affected individuals have shown improvement of symptoms with these treatments. In other cases, drug therapies have been ineffective.
Other treatment is symptomatic and supportive.
According to the medical literature, an individual with intracranial Rosai-Dorfman disease was treated with microsurgical resection and stereotatic radiosurgery. Initial results suggested that the associated lesion regressed significantly. More research is necessary to determine the long-term safety and effectiveness of these surgical techniques for the treatment of individuals with intracranial Rosai-Dorfman disease.
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Zeiger B, Kohler S, Burgdorf W. Sinus Histiocytosis with Massive Lymphadenopathy (Rosai-Dorfman Disease). In: World Health Organization Classification of Tumors. Pathology and Genetics of Skin Tumors, LeBoit PE, Burg G, Weedon D, Sarasain A, Eds. 2006 IARC Press, Lyon. pp. 221.
LaBarge III DV, Salzman K, Harnsberger HR, et al. Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease): imaging manifestations in the head and neck. AJR. 2008;191:W299-W306.
Vemuganti GK, Naik MN, Honavar SG. Rosai Dorfman disease of the orbit. J Hematol Oncol. 2008;1:1-17.
Coras B, Michel S, Landthaler M, Hohenleutner U. Rosai-Dorfman disease with cutaneous manifestations (sinus histiocytosis with massive lymphadenopathy). Eur J Derm. 2006;16:293-296.
Frater JL, Maddox JS, Obadiah JM, Hurley MY. Cutaneous Rosai-Dorfman disease: comprehensive review of cases reported in the medical literature since 1990 and presentation of an illustrative case. J Cutan Med Surg. 2006;10:281-290.
Chopra D, Svensson WE, Forouhi P, Poole S. A rare case of extranodal Rosai-Dorfman disease. Br J Radiol. 2006;79:e117-e119.
Rodriguez-Galindo C, et al. Extranodal Rosai-Dorfman disease in children. J Pediatr Hematol Oncol. 2004;26:19-24.
Pitamber HV, Grayson W. Five cases of cutaneous Rosai-Dorfman disease. Clin Exp Dermatol. 2003;28:17-21.
Hadjipanayis CG, et al. Intrancranial Rosai-Dorfman disease treated with microsurgical resection and stereotactic radiosurgery. Case report. J Neurosurg. 2003;98:165-8.
Pulsoni A, et al. Treatment of sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease): report of a case and literature review. Am J Hematol. 2002;69:67-71.
Kitai R, et al. Meningeal Rosai-Dorfman disease: report of three cases and literature review. Brain Tumor Pathol. 2001;18:49-54.
Wu M, et al. A report of intracranial Rosai-Dorfman disease with literature review. Ann Diagn Pathol. 2001;5:96-102.
Petzold A, et al. Relapsing intracranial Rosai-Dorfman disease. J Neurol Neurosurg Psychiatry. 2001;71:538-41.
Wang E, et al. Rosai-Dorfman disease presenting with isolated bilateral masses: report of two cases. AJNR Am J Neuroradiol. 2001;22:1386-88.
Carbone A, et al. Review of sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) of head and neck. Ann Otol Rhinol Laryngol. 1999;108:1095-104.
Huang HY, et al. Isolated intracranial Rosai-Dorfman disease: case report and literature review. Pathol Int. 1998;48:396-402.
Foucar E, Rosai J, Dorfman R, Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease): review of the entity. Semin Diagn Pathol. 1990;7:19-73.
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