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