Children, adolescents, and young adults are more frequently affected by this disorder, but it may also occur in older adults 2, 3. Rosaidorfman disease rdd is a rare proliferative histiocytic disorder of unknown etiology. Pocket companion to robbins and cotran pathologic basis of disease, 7th ed. 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. Overall, less than 50 cases have been described in world literature. 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. 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. Mutations in slc29a3, encoding an equilibrative nucleoside. 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. 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. Tumor biology, clinical features, pathology, and treatment.
Rdd is a benign proliferative disorder of histiocytes mainly involving the lymph nodes. Rosaidorfman disease has a protean imaging appearance but most. The diagnosis of rosai dorfman rd is made following a biopsy of the affected tissue. We present a case of extranodal rdd as a renal mass in a young female patient, with imaging findings and pathologicdiagnosis correlation. Children, adolescents, and young adults are more frequently affected by this disorder, but it may also occur in older adults 2,3. Rosai dorfman disease rdd, also known as sinus histiocytosis with massive lymphadenopathy, is a benign proliferation of histiocytes. Rosai dorfman disease of the orbit journal of hematology. Cutaneous rosai dorfman disease typically occurs in older females and presents in various forms, ranging from single papules to multiple nodules and plaques. However, as it will be clear in the following sections, there are some differences that can help to differentiate between them.
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. Faisalabad histiocytosis fhc, sinus histiocytosis with massive lymphadenopathy shml, h syndrome, and pigmented hypertrichosis with insulindependent diabetes mellitus syndrome phid. The histiocytosislymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct. Rosai dorfman disease rdd is a rare, lymphoproliferative disorder of uncertain etiology. Case report extranodal rosaidorfman disease presenting as. 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. Rosaidorfman disease mimics lymphoma on fdg petct in a pediatric patient.
Rosaidorfman disease with nodal and extranodal involvements. It resembles meningioma on imaging scans and is difficult to differentiate preoperatively. Click on the link to view a sample search on this topic. Rosai dorfman disease rdd, which was first described by rosai and dorfman in 1969, is a nonneoplastic lymphoproliferative disease with unknown etiology and pathogenesis. A total body 18fdg petct scan was obtained for staging purposes and to guide therapy initiation.
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. Consensus recommendations for the diagnosis and clinical. The diagnosis depends on histopathologic features, including the classic finding of emperipolesis, along with immunohistochemical characteristics. March 2020 wills eye resident case series diagnosis. Rosaidorfman disease, also known as sinus histiocytosis with massive lymphadenopathy or rosaidorfmandestombes disease, is a rare benign idiopathic. Rosaidorfman disease is a rare disorder characterized by overproduction. Rosaidorfman disease nord national organization for. Cellspecific gene expression in langerhans cell histiocytosis lesions reveals a distinct profile compared with epidermal langerhans cells. Rosaidorfman disease hematology and oncology merck. 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 is an uncommon idiopathic histiocytic disorder of lymph nodes and extranodal sites with rare central nervous system manifestation. Rosaidorfman disease was commonly characterized as. Rosaidorfman disease originating from nasal septal mucosa. 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 genetic and rare diseases information. Aerin is a fortran iv program written to simplify the application of equations. The digestive system manifestations of rosaidorfman disease. Rosaidorfman disease with activating kras mutation. Successful treatment of disseminated rosaidorfman disease with. 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. Rosaidorfman disease is a rare diagnosis with a variety of imaging manifestations and usually requires histology for diagnosis. Rosaidorfman syndrome definition of rosaidorfman syndrome. Rosai dorfman disease is a histiocytic disorder with a poorly defined pathogenesis. Rosai dorfman disease has a protean imaging appearance but most frequently presents as neck lymphadenopathy.
Strong staining of histiocytes with s100 is characteristic of rosaidorfman. Rosaidorfman disease and neurological manifestations. This is usually on both sides and is painless but often get very. Although nonspecific, emperipolesis is also characteristic and supports the diagnosis when present. 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 most common among patients rosai dorfman disease. Rosai dorman disease rdd, also known as sinus histiocytosis with massive lymphadenopathy, was originally described by destombes in 1965. A 60yearold man with fatigue and a perinephric mass was found to have rosai dorfman disease expressing an activating mutation in kras. It is also known as sinus histiocytosis with massive lymphadenopathy, 1 abbreviated shml. Rosaidorfman disease nord national organization for rare. It is a rare, benign, selflimiting disease of phagocytic histiocytes affecting a young age group presenting with massive painless cervical lymphadenopathy.
Rosaidorfman disease rdd, or sinus histiocytosis with massive. Jun 28, 2008 to report the clinicohistopathologic features, management and outcome of rosai dorfman disease of the orbit. 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 is a time filled with unknowns, change, and new people and situations. Pubmed is a searchable database of medical literature and lists journal articles that discuss rosaidorfman disease. A course of therapy with oral cobimetinib produced a. 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. Rosaidorman disease rdd, also known as sinus histiocytosis with massive lymphadenopathy, was originally described by destombes in 1965. A, t2weighted axial magnetic resonance image of the abdomen demonstrates a moderately t2 hyperintense lesion in the body of the pancreas arrow. Request pdf on researchgate on mar 1, 2012, s lewis cooper and others published rosaidorfman disease. Ocular manifestations of rosai dorfman disease occur in 1011% of cases3. Imaging manifestations in the head and neck american journal of roentgenology, vol.
Extranodal rosaidorfman disease american journal of. Sinus histiocytosis with massive lymphadenopathy rosai. 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. Imaging characteristics of rosaidorfman disease in the. Soft tissue rosaidorfman disease, recurrent, diagnosis, treatment. It was first described in 1969 by rosai and dorfman. Rosai dorfman disease rdd also known as sinus histiocytosis with massive lymphadenopathy shml is a rare benign idiopathic proliferative disease that involve phagocytic histiocytes. Rosai dorfman disease, abbreviated rdd, is a rare lymph node pathology. Rosai dorfman syndrome with sinonasal mucosa and intraocular involvement. 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. It typically presents with fever and painless cervical lymphadenopathy in young adults and less than half of rds cases demonstrate extranodal involvement. Rosai dorfman disease confined to the breast is extremely rare, but important to recognize as it can mimic malignancy. 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. Morgan, affiliation wellchild paediatric research centre and department of medical and molecular genetics, university of birmingham college of medical and.
Article extranodal rosaidorfman disease of the kidney. 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. We present the case of a 63yearold woman who presented. Rosaidorfman disease of the breast pubmed central pmc. Rosaidorfman disease rdd is a rare idiopathic his to proliferative disorder that usually presents with systemic symptoms and cervical lymphadenopathy. Laryngeal rosaidorfman disease sinus histiocytosis with massive. Rosaidorfman disease simulating nodular scleritis and. Mutually exclusive recurrent kras and map2k1 mutations in. We share our experience with serial petct imaging on a patient with extranodal rosai dorfman disease rdd with hepatopancreatic involvement. Intrathoracic manifestations of rosaidorfman disease.
Here we report a case of rdd in a 15yearold female who presented with epigastric pain. 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. Rdd together with treatment recommendations based on clinical experience and. Rdd typically presents with generalized lymphadenopathy and polymorphic histiocytic infiltration of the lymph node sinuses. Sinus histiocytosis with massive lymphadenopathy rosai dorfman disease. Rosai dorfman disease rdd with spinal cord involvement is a rare clinical entity.
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. Rosai dorfman disease is a rare, idiopathic, benign proliferative histiocytic disorder originally described in 1969. 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. Rosaidorfman disease rdd, also known as sinus histiocytosis with massive lymphadenopathy shml, is a rare monocytemacrophage proliferative disorder of varied biological behavior. Lymphadenopathy of the neck is the most common place of histiocyte accumulation, although accumulation outside of lymph nodes may occur, as well. A small piece of the tissue is obtained so that it can be viewed under a microscope by a pathologist. Painless bilateral cervical lymphadenopathy is present in most of the patients and is generally accompanied by fever, leukocytosis, increased sedimentation rate, and. Jul 22, 20 rosai dorfman disease was first described by rosai and dorfman in 1969. 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 disease rdd, also known as sinus histiocytosis with massive lymphadenopathy, is a clinicopathological entity described by rosai and dorfman just over 40 years ago. Rosaidorfman disease rdd is a rare, macrophagerelated disorder of unknown cause that presents as a localized or systemic disorder involving lymph. The disease is frequently multifocal, and a diagnosis in one area should prompt suspicion that other sites may be involved also. On magnetic resonance imaging mri, the lesions are lobulated, isointense on t1w1 with homogenous intense.
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. This patient had other systemic lesions in the liver, peritoneum and pericardium which were biopsied and revealed rosai dorfman lesion. Imaging characteristics of rosai dorfman disease in the central nervous system. Isolated intracranial rosaidorfman disease mimicking a. Intracranial involvement is relatively rare and isolated intracranial rdd is very scarce. Rosai dorfman disease is a rare disorder characterized by accumulation of histiocytes and massive lymphadenopathy, particularly in the neck and head. 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. Feb 28, 2014 rosai dorfman disease rdd is also known as sinus histiocytosis with massive lymphadenopathy shml. 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. Adeleye ao, amir g, fraifeld s, shoshan y, umansky f, spektor s. Imaging manifestations in the head and neck donald v. Rosaidorfmandestombes disease rdd is a rare nonlangerhans cell.
Rosaidorfman disease rdd is a rare, nonmalignant clinical entity characterized by a group. Rare diseases information center, a program of the national center for advancing and. Rosaidorfman disease has a protean imaging appearance but most frequently presents as neck lymphadenopathy. 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. Rosaidorfman disease of the breast is a rare benign inflammatory disorder that can mimic breast cancer clinically and on imaging studies. 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. The manufacturers software had been used to correct emission data for scatter, random. Although cutaneous and lymph node involvement are relatively welldescribed, intrathoracic manifestations of rdd have only occasionally been reported. Ocular manifestations of rosaidorfman disease occur in 1011% of cases3. However, more than 87% of patients present with enlargement of the lymph nodes in the neck. 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. Rosai dorfman disease, also called sinus histiocytosis with massive lymphadenopathy, is a nonlangerhans histiocytic disease.
Youll hear about new websites, ipad apps, pathcasts, and other educational materials. Less than half of the cases demonstrate extranodal involvement, with symptomology reflecting the afflicted organsystems. 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. 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. The clinical course is unpredictable regardless of treatment. 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. It usually occurs in children and young adults mean age of onset 20. Rosaidorfman disease of the paranasal sinuses and orbit. Rosaidorfman 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. Wed like to send you periodic updates regarding pathology educational materials released by our department. 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. Some of these diseases share imaging findings such as extraaxial lesions, hypothalamicpituitary axis involvement and skull involvement. 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.
The central nervous system cns is a very rare site for rdd and only a few imaging appearances have been described. Jan 01, 2008 rosai dorfman disease with extranodal manifestation in the head. A study on clinical characteristics and magnetic resonance. Rosai dorfman disease or sinus histiocytosis with massive lymphadenopathy is a rare, idiopathic, nonneoplastic histiocytic proliferative disorder 14. Extranodal rosai dorfman syndrome accounts for almost half of all clinical presentations. 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. Rosaidorfman disease rdd is typically characterized by painless bilateral and symmetrical cervical lymphadenopathy, with associated fever and leukocytosis. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for rosaidorfman disease. To the best of our knowledge, such findings have never been previously described in the literature. Rosai dorfman disease rdd presenting as a pancreatic mass. Rosai dorfman disease rdd is a rare lymphoproliferative disorder with nodal and extranodal involvements.
In this case report, we describe the imaging features of rosaidorfman disease as visualized by newer types of mri sequences, such as diffusion tensor. Concomitant sinus histiocytosis with massive lymphadenopathy. This dural lesion was not proven pathologically, but presumed to be related to known rosai dorfman disease. Rosaidorfman disease rdd is a rare benign disease which usually characterized by painless. 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. Most patients and families feel illequipped to understand what is happening. Patient with histologically proven rosai dorfman disease. Rosaidorfman disease symptoms histiocytosis association. 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. The authors report three cases and summarise the existing literature. 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. Rosaidorfman disease, also known as sinus histiocytosis with massive lymphadenopathy or rosaidorfmandestombes disease, is a rare benign idiopathic proliferative disease that involves phagocytic histiocytes. Rosaidorfman disease radiology reference article radiopaedia.
Aufgrund ihrer seltenheit existiert kein standardisiertes therapieschema. Rosaidorfman disease rdd is a nonmalignant histiocytic disorder of unknown origin that is. 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. Diagnosis and management of rosai dorfman disease involving the central nervous system. Mutations in slc29a3, encoding an equilibrative nucleoside transporter ent3, cause a familial histiocytosis syndrome faisalabad histiocytosis and familial rosai dorfman disease neil v. Rosaidorfman disease with paravertebral and epidural. Rosaidorfman disease johns hopkins surgical pathology. Rosaidorfman disease anatomy, medical imaging and e. Sinus histiocytosis rosaidorfman disease of the suprasellar region. Neuroimaging features of cns histiocytosis syndromes. Coexistence of localized langerhans cell histiocytosis and cutaneous rosai dorfman disease.
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