Rosai dorfman disease rdd was first described by destombes in 1965 and was recognized as a distinct clinicopathological entity by rosai and dorfman in 1969. Rosaidorfman disease hematology and oncology merck. Rosai dorfman disease of the orbit journal of hematology. Histiocytosis is a general name for a group of syndromes where immune cells known as histiocytes monocytesmacrophages proliferate and mistakenly attack the body instead of infections. Author links open overlay panel yingshi piao md, phd a b 1 yuan zhang md, phd c d e 1 changli yue md a b chengshuo wang md, phd c d luo zhang md, phd c d e. Sheets of large foamy histiocytes without nuclear grooves, mixed with lymphocytes and plasma cells histiocytes infiltrate submucosa and muscularis propria but not mucosa histiocytes demonstrate emperipolesis ingestion of red blood cells lymph nodes have similar findings. Children, adolescents, and young adults are more frequently affected by this disorder, but it may also occur in older adults 2, 3. Rosaidorfman disease genetic and rare diseases information. Feb 28, 2014 rosai dorfman disease rdd is also known as sinus histiocytosis with massive lymphadenopathy shml. It resembles meningioma on imaging scans and is difficult to differentiate preoperatively. Rosai dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy or rosai dorfman destombes disease, is a rare benign idiopathic proliferative disease that involves phagocytic histiocytes. Concomitant sinus histiocytosis with massive lymphadenopathy. Rosai dorfman disease, abbreviated rdd, is a rare lymph node pathology.
Tumor biology, clinical features, pathology, and treatment. However, as it will be clear in the following sections, there are some differences that can help to differentiate between them. Rosaidorfman disease mimics lymphoma on fdg petct in a pediatric patient. Extranodal rosaidorfman disease american journal of. Rosaidorfman disease and neurological manifestations. It usually occurs in children and young adults mean age of onset 20. It is a benign disease which is characterized by overproduction and accumulation of a specific type of white blood cell in the lymph nodes of the body, most often those of the neck cervical. This is usually on both sides and is painless but often get very. The authors report three cases and summarise the existing literature. Faisalabad histiocytosis fhc, sinus histiocytosis with massive lymphadenopathy shml, h syndrome, and pigmented hypertrichosis with insulindependent diabetes mellitus syndrome phid. Isolated intracranial rosaidorfman disease mimicking a.
Rosai dorfman disease rdd presenting as a pancreatic mass. It is also known as sinus histiocytosis with massive lymphadenopathy, 1 abbreviated shml. Request pdf on researchgate on mar 1, 2012, s lewis cooper and others published rosaidorfman disease. Article extranodal rosaidorfman disease of the kidney. Jun 28, 2008 to report the clinicohistopathologic features, management and outcome of rosai dorfman disease of the orbit.
Rosaidorfman syndrome definition of rosaidorfman syndrome. A, t2weighted axial magnetic resonance image of the abdomen demonstrates a moderately t2 hyperintense lesion in the body of the pancreas arrow. Rosai dorfman syndrome rds is a rare histiocytic proliferative disorder commonly involving the lymph nodes and presenting with nonspecific symptoms, such as fever and elevated erythrocyte sedimentation rate esr. Morgan, affiliation wellchild paediatric research centre and department of medical and molecular genetics, university of birmingham college of medical and. Ocular manifestations of rosai dorfman disease occur in 1011% of cases3. Rosaidorfman disease rdd is typically characterized by painless bilateral and symmetrical cervical lymphadenopathy, with associated fever and leukocytosis. October 93 rosaidorfman disease bn mahanta1, t goswami mahanta2 abstract a young male presented with recurrent neck swellings with initial leucocyte count of 16800mm 3, with noncaseating glands on ultrasonography neck. Rosai dorfman disease in a 12yearold nigerian male fine needle aspiration cytology and immunohistochemical characterization of the histiocytes in sinus histiocytosis with massive lymphadenopathy rosai dorfman syndrome. Rosai dorfman disease is an uncommon disorder featured by histiocytic proliferation in the lymph nodes, clinically presenting as lymphadenopathy andor extranodal involvement in onefourth to onethird of cases. Rosaidorfman disease was commonly characterized as. Wed like to send you periodic updates regarding pathology educational materials released by our department. Rosaidorfman disease rdd is a benign nonlangerhans cell histiocytic disorder that usually presents with massive lymphadenopathy and sinus histiocytosis, although at least 40% of patients can have extranodal involvement.
Rosai dorfman disease or sinus histiocytosis with massive lymphadenopathy is a rare, idiopathic, nonneoplastic histiocytic proliferative disorder 14. Rosai dorfman syndrome with sinonasal mucosa and intraocular involvement. Rosai dorman disease rdd, also known as sinus histiocytosis with massive lymphadenopathy, was originally described by destombes in 1965. This is a case report of rosai dorfman syndrome in a 36yearold caucasian male, involving the lacrimal gland, cervical lymph nodes, nasal and sinusal mucosa. Most patients and families feel illequipped to understand what is happening. Rosai dorfman disease is a histiocytic disorder with a poorly defined pathogenesis.
This case report briefly outlines the findings for rosaidorfman disease using the advanced imaging techniques of dti, swi and perfusion mri, all of which can substantiate the findings of routine mri sequences. Sheets of large foamy histiocytes without nuclear grooves, mixed with lymphocytes and plasma cells. Rosai dorfman disease presenting as an isolated extranodal mass of the carotid sheath. Less than half of the cases demonstrate extranodal involvement, with symptomology reflecting the afflicted organsystems. Sinus histiocytosis with massive lymphadenopathy rosai. On magnetic resonance imaging mri, the lesions are lobulated, isointense on t1w1 with homogenous intense. Rosaidorfman disease, also known as sinus histiocytosis with massive lymphadenopathy or rosaidorfmandestombes disease, is a rare benign idiopathic proliferative disease that involves phagocytic histiocytes. Rosai dorfman disease rdd is a rare lymphoproliferative disorder with nodal and extranodal involvements. Some of these diseases share imaging findings such as extraaxial lesions, hypothalamicpituitary axis involvement and skull involvement. Rosaidorfman disease has a protean imaging appearance but most. Adeleye ao, amir g, fraifeld s, shoshan y, umansky f, spektor s. Neuroimaging features of cns histiocytosis syndromes. Rosai dorfman disease, also called sinus histiocytosis with massive lymphadenopathy, is a nonlangerhans histiocytic disease. Rosaidorfman disease, also known as sinus histiocytosis with massive lymphadenopathy or sometimes as destombesrosaidorfman disease, is a rare disorder of unknown cause that is characterized by abundant histiocytes in the lymph nodes or other locations throughout the body.
Rosaidorfman disease anatomy, medical imaging and e. The disease is frequently multifocal, and a diagnosis in one area should prompt suspicion that other sites may be involved also. Coexistence of localized langerhans cell histiocytosis and cutaneous rosai dorfman disease. Although nonspecific, emperipolesis is also characteristic and supports the diagnosis when present. Rosai dorfman disease confined to the breast is extremely rare, but important to recognize as it can mimic malignancy. Painless bilateral cervical lymphadenopathy is present in most of the patients and is generally accompanied by fever, leukocytosis, increased sedimentation rate, and. Rosaidorfmandestombes disease rdd is a rare nonlangerhans cell. Rosaidorfman disease rdd is a rare, nonmalignant clinical entity characterized by a group. Consensus recommendations for the diagnosis and clinical. Rosaidorfman disease symptoms histiocytosis association. Rosaidorfman disease rdd is a rare proliferative histiocytic disorder of unknown etiology. A course of therapy with oral cobimetinib produced a. Mutually exclusive recurrent kras and map2k1 mutations in.
Extranodal rosai dorfman syndrome accounts for almost half of all clinical presentations. Aerin is a fortran iv program written to simplify the application of equations. Sinus histiocytosis rosaidorfman disease of the suprasellar region. Intrathoracic manifestations of rosaidorfman disease. Rosai dorfman disease rdd, also known as sinus histiocytosis with massive lymphadenopathy, is a benign proliferation of histiocytes. This disease commonly presents in children and young adults with supradiaphragmatic lymphadenopathy or extranodal lesions consisting of tissue infiltrates composed of a polyclonal population of. Rosai dorfman disease is a rare disorder characterized by accumulation of histiocytes and massive lymphadenopathy, particularly in the neck and head. Rosaidorfman disease rdd, or sinus histiocytosis with massive lymphadenopathy shml, is an uncommon benign lymphoproliferative disorder with an estimated incidence of approximately 100 cases per year in the united states. It typically presents with fever and painless cervical lymphadenopathy in young adults and less than half of rds cases demonstrate extranodal involvement. Pocket companion to robbins and cotran pathologic basis of disease, 7th ed.
A study on clinical characteristics and magnetic resonance. Rosai dorfman disease is most common among patients rosai dorfman disease. Mutations in slc29a3, encoding an equilibrative nucleoside transporter ent3, cause a familial histiocytosis syndrome faisalabad histiocytosis and familial rosai dorfman disease neil v. Rosai dorfman may affect lymph nodes only, it can affect lymph nodes plus other body systems, or it can occur in body systems without lymph node involvement. Rosaidorfman disease rdd also known as sinus histiocytosis with massive lymphadenopathy shml is a rare benign idiopathic proliferative disease that involve phagocytic histiocytes patient with histologically proven rosaidorfman disease. However, more than 87% of patients present with enlargement of the lymph nodes in the neck. Jul 22, 20 rosai dorfman disease was first described by rosai and dorfman in 1969. Jan 01, 2008 rosai dorfman disease with extranodal manifestation in the head. Additional, less common, histiocytic disorders included in class ii are sinus histiocytosis with massive lymphadenopathy shml, rosai dorfman syndrome, xanthogranuloma, reticulohistiocytoma and a familial form previously designated as faisalabad histiocytosis. The diagnosis of rosai dorfman rd is made following a biopsy of the affected tissue. Rosaidorfman disease rdd is a rare, macrophagerelated disorder of unknown cause that presents as a localized or systemic disorder involving lymph. Rosaidorfman disease rdd is a rare benign disease which usually characterized by painless.
This dural lesion was not proven pathologically, but presumed to be related to known rosai dorfman disease. It was first described in 1969 by rosai and dorfman. Rosai dorfman disease rdd, which is also called as sinus histiocytosis with massive lymphadenopathy shml, is a rare histiocytic disorder which occurs due to the overproduction of non. Rosai dorfman disease rdd, which was first described by rosai and dorfman in 1969, is a nonneoplastic lymphoproliferative disease with unknown etiology and pathogenesis. Rosaidorfman disease is a rare disorder characterized by overproduction.
The clinical course is unpredictable regardless of treatment. Mutations in slc29a3, encoding an equilibrative nucleoside. To the best of our knowledge, such findings have never been previously described in the literature. We present a case of extranodal rdd as a renal mass in a young female patient, with imaging findings and pathologicdiagnosis correlation. Imaging manifestations in the head and neck american journal of roentgenology, vol. The manufacturers software had been used to correct emission data for scatter, random. Diagnosis and management of rosai dorfman disease involving the central nervous system. Pubmed is a searchable database of medical literature and lists journal articles that discuss rosaidorfman disease.
Age of presentation the disease usually occurs in the first two decades of life, in children as well as in young adults mean age 20,6, with a slight predominance in men. Cellspecific gene expression in langerhans cell histiocytosis lesions reveals a distinct profile compared with epidermal langerhans cells. Rosai dorfman disease rdd is a benign nonlangerhans cell histiocytosis with a predilection for the head and neck lymph nodes, although it may present extranodally in the skin, soft tissue, or the central nervous system. Rosai dorfman disease is most common among patients rosai dorfman disease rdd, also known as sinus histiocytosis with massive lymphadenopathy, is a clinicopathological entity described by rosai and dorfman just over 40 years ago. Cutaneous rosai dorfman disease typically occurs in older females and presents in various forms, ranging from single papules to multiple nodules and plaques. Rosaidorfman disease simulating nodular scleritis and. Rosaidorfman disease of the paranasal sinuses and orbit. Rosai dorfman disease also known as sinus histiocytosis with massive lymphadenopathy is a rare benign proliferative disorder of histiocytes that typically involves the lymph nodes and can also involve extranodal sites. Rosaidorfman disease with nodal and extranodal involvements. The histiocytosislymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct. Rdd is a benign proliferative disorder of histiocytes mainly involving the lymph nodes. Rosaidorfman disease with activating kras mutation.
Rosaidorfman disease rdd is a nonmalignant histiocytic disorder of unknown origin that is. A small piece of the tissue is obtained so that it can be viewed under a microscope by a pathologist. Ocular manifestations of rosaidorfman disease occur in 1011% of cases3. Rosai dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy or sometimes as destombes rosai dorfman disease, is a rare disorder of unknown cause that is characterized by abundant histiocytes in the lymph nodes or other locations throughout the body. Rdd typically presents with generalized lymphadenopathy and polymorphic histiocytic infiltration of the lymph node sinuses.
Rosaidorfman disease of the breast is a rare benign inflammatory disorder that can mimic breast cancer clinically and on imaging studies. Laryngeal rosaidorfman disease sinus histiocytosis with massive. Rosai dorfman disease rdd, which is also referred to as sinus histiocytosis with massive lymphadenopathy, is a rare nonlangerhans cell reactive histiocytic disorder that was initially described in 1969. Rosai dorfman disease rdd is a rare, lymphoproliferative disorder of uncertain etiology.
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. Rosai dorfman disease rdd with spinal cord involvement is a rare clinical entity. Aufgrund ihrer seltenheit existiert kein standardisiertes therapieschema. March 2020 wills eye resident case series diagnosis. A 60yearold man with fatigue and a perinephric mass was found to have rosai dorfman disease expressing an activating mutation in kras. Patient with histologically proven rosai dorfman disease. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for rosaidorfman disease. Rosaidorfman disease with paravertebral and epidural. Rosai dorfman disease has a protean imaging appearance but most frequently presents as neck lymphadenopathy. Children, adolescents, and young adults are more frequently affected by this disorder, but it may also occur in older adults 2,3. Strong staining of histiocytes with s100 is characteristic of rosaidorfman. Rosaidorman disease rdd, also known as sinus histiocytosis with massive lymphadenopathy, was originally described by destombes in 1965. A new diagnosis of rosai dorfman rd can bring feelings of being overwhelmed, bewildered, scared, angry, sad, disappointed, helpless, and sometimes even feelings of guilt.
Rosaidorfman disease has a protean imaging appearance but most frequently presents as neck lymphadenopathy. Rosaidorfman disease of the breast pubmed central pmc. Destombes rosai dorfman disease rdd, first described by paul destombes in 1965, 1 was recognized as a distinct clinicopathological entity by rosai and dorfman in 1969. Rosai dorfman destombes disease rdd is a rare nonlangerhans cell histiocytosis lch first described in 1965 by a french pathologist, pierre paul louis lucien destombes, who reported 4 children and young adults with lymphadenopathy and sinus histiocytosis upon histologic analysis.
Intracranial involvement is relatively rare and isolated intracranial rdd is very scarce. Rosai dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy, is a rare disorder of unknown etiology that is characterized by abundant histiocytes in the lymph nodes throughout the body. Rosai dorfman disease sinus histiocytosis with massive lymphadenopathy shml rosai dorfman disease rd, also known as sinus histiocytosis with massive lymphadenopathy shml, is a rare histiocytic disorder which involves the overproduction of a type of white blood cell called non langerhans sinus histiocyte. We report a case of rdd with paravertebral and intraspinal epidural involvement in a 24yearold male bangladeshi patient who presented with progressive bilateral lower limb weakness for 20 days duration associated with spasticity and muscle spasm. Rosaidorfman disease rdd, also known as sinus histiocytosis with massive lymphadenopathy shml, is a rare monocytemacrophage proliferative disorder of varied biological behavior. Rosai dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy, is a nonmalignant proliferation of histiocytes in lymph node sinuses and many other extranodal sites. This patient had other systemic lesions in the liver, peritoneum and pericardium which were biopsied and revealed rosai dorfman lesion. Youll hear about new websites, ipad apps, pathcasts, and other educational materials. Rare diseases information center, a program of the national center for advancing and. Case report extranodal rosaidorfman disease presenting as.
The central nervous system cns is a very rare site for rdd and only a few imaging appearances have been described. Although cutaneous and lymph node involvement are relatively welldescribed, intrathoracic manifestations of rdd have only occasionally been reported. Successful treatment of disseminated rosaidorfman disease with. Rosaidorfman disease nord national organization for. Imaging characteristics of rosaidorfman disease in the. Rosaidorfman disease johns hopkins surgical pathology. Imaging manifestations in the head and neck donald v.
Imaging characteristics of rosai dorfman disease in the central nervous system. It is a rare, benign, selflimiting disease of phagocytic histiocytes affecting a young age group presenting with massive painless cervical lymphadenopathy. In this case report, we describe the imaging features of rosaidorfman disease as visualized by newer types of mri sequences, such as diffusion tensor. Rosaidorfman disease nord national organization for rare. Rosai dorfman disease is a rare, idiopathic, benign proliferative histiocytic disorder originally described in 1969. Rosai dorfman disease rdd also known as sinus histiocytosis with massive lymphadenopathy shml is a rare benign idiopathic proliferative disease that involve phagocytic histiocytes. The aim of the current study was to summarize the clinical features and imaging characteristics of rdd, in an effort to improve its diagnostic accuracy. Soft tissue rosaidorfman disease, recurrent, diagnosis, treatment.
Lymphadenopathy of the neck is the most common place of histiocyte accumulation, although accumulation outside of lymph nodes may occur, as well. Rosaidorfman disease is an uncommon idiopathic histiocytic disorder of lymph nodes and extranodal sites with rare central nervous system manifestation. We share our experience with serial petct imaging on a patient with extranodal rosai dorfman disease rdd with hepatopancreatic involvement. The digestive system manifestations of rosaidorfman disease. Rosaidorfman disease rdd, or sinus histiocytosis with massive. Rosaidorfman disease radiology reference article radiopaedia.
Rdd together with treatment recommendations based on clinical experience and. Here we report a case of rdd in a 15yearold female who presented with epigastric pain. Sinus histiocytosis with massive lymphadenopathy rosai dorfman disease. It is a time filled with unknowns, change, and new people and situations. Overall, less than 50 cases have been described in world literature. Rosai dorfman disease is a rare benign disease that was first described by rosai and dorfman as sinus histiocytosis with massive lymphadenopathy in the 1960s. Sinus histiocytosis with massive lymphadenopathy, also known as rosai dorfman disease, is a rare and benign source of lymphadenopathy first described in 1969, which mimics neoplastic processes. We present the case of a 63yearold woman who presented. Click on the link to view a sample search on this topic. Rosaidorfman disease originating from nasal septal mucosa. A total body 18fdg petct scan was obtained for staging purposes and to guide therapy initiation. Rosaidorfman disease is a rare diagnosis with a variety of imaging manifestations and usually requires histology for diagnosis. The diagnosis depends on histopathologic features, including the classic finding of emperipolesis, along with immunohistochemical characteristics.