Rosai-Dorfman disease is a rare, usually benign, entity that mostly affects children and adolescents. We report a clinical case in which the most common clinical and imaging manifestation is present: cervical lymphadenopathy. Histological confirmation is usually needed to make a confident diagnosis.A doença de Rosai-Dorfman é uma entidade rara e geralmente benigna, que surge mais frequentemente em crianças e adolescentes. Descreve-se um caso clínico com a manifestação clínica e imagiológica mais comum: adenomegalias cervicais. A confirmação histológica é geralmente necessária para estabelecer o diagnóstico

Carvalho, André

Correia, Ricardo

Cunha, Rui

Fonseca, Elsa

Rios, Elisabete

Rodrigues, Márcio

English

Acta Radiológica Portuguesa

ACTA RADIOLÓGICA PORTUGUESA
May-August 2018   Vol 30 nº 2  31-33
Rosai-Dorfman Disease
Doença de Rosai-Dorfman 
Ricardo Correia1, André Carvalho1, Márcio Rodrigues1, Elisabete Rios2, Elsa Fonseca2, Rui Cunha1
1Serviço de Radiologia, Centro Hospitalar de 
São João, Porto, Portugal
2Serviço de Anatomia Patológica, Centro 
Hospitalar de São João, Porto, Portugal
Address
Ricardo Correia
Centro Hospitalar de São João
Serviço de Radiologia
Alameda Prof. Hernâni Monteiro
4200-319 Porto
Portugal
email: ricardogdc@gmail.com
31
Resumo
A doença de Rosai-Dorfman é uma entidade 
rara e geralmente benigna, que surge mais 
frequentemente em crianças e adolescentes. 
Descreve-se um caso clínico com a manifestação 
clínica e imagiológica mais comum: adenomegalias 
cervicais. A confirmação histológica é geralmente 
necessária para estabelecer o diagnóstico.
Palavras-chave
Linfadenopatia; Histiocitose sinusal; Doença de 
Rosai-Dorfman.
Abstract
Rosai-Dorfman disease is a rare, usually benign, 
entity that mostly affects children and adolescents. 
We report a clinical case in which the most 
common clinical and imaging manifestation is 
present: cervical lymphadenopathy. Histological 
confirmation is usually needed to make a 
confident diagnosis.
Keywords
Lymphadenopathy; Sinus histiocytosis; Rosai-
Dorfman disease.
Radiological Case Report / Caso Clínico
Introduction
Rosai-Dorfman disease, also known as sinus histiocytosis with 
massive lymphadenopathy, is a rare and usually benign clinical-
pathological entity. It occurs more frequently in children and 
adolescents, the most common clinical presentation being 
bilateral painless cervical lymphadenopathy..1,2 The authors 
present a clinical case of  this disease, including imaging and 
histological findings, reviewing its main characteristics.
Clinical history
A 6-month male infant, with no relevant medical history, is 
transported to the emergency department due to fever with 
4 days of  evolution (maximum rectal temperature of  39oC) 
and left cervical swelling with ipsilateral flexion of  the neck. 
At physical examination the swelling was flushed, with elastic 
and adherent consistency. The ultrasound evaluation (Fig. 1) 
showed a left cervical adenopathic conglomerate measuring 
approximately 40 mm at greater axis, with adenomegalies of  
round morphology and heterogeneous echoestructure, without 
areas of  necrosis or abscess. The analytical study revealed 
leukocytosis (19.21 x 109/L), with a slight neutrophilia of  54% 
and an increase in C-reactive protein (46.5 mg/L, to a normal 
value <3 mg/L).
Intravenous antibiotic therapy and clinical surveillance were 
decided. During hospitalisation serologies for toxoplasmosis, 
rubella, syphilis, cytomegalovirus, Epstein-Barr virus, simple 
herpes virus 1 and 2 and parvovirus B19 were negative. After 
12 days of  antibiotic treatment, the infant was discharged from 
hospital, without fever or local inflammatory signs and with a 
standardised laboratory study, and was advised to reassess the 
patient in an outpatient clinic due to the persistence of  left 
cervical swelling with overlapping dimensions.
Persistent swelling one month later led to an MRI of  the 
neck (Fig. 2), which showed bilateral cervical adenomegalies, 
forming an adenopathic conglomerate on the left with a 
greater axis of  48 mm. These adenomegalies were intensely 
enhanced after administration of  intravenous contrast and 
were mostly hypersignal in the T2-weighted sequences, but 
some T2 hyposignal areas were evident.
A biopsy guided by ultrasound of  left adenopathic 
conglomerate (Fig. 3) was made whose histological and 
immunohistochemical study (Fig. 4) revealed the presence 
of  numerous bulky histiocytes with immunostaining S100 
Figure 1 – Cervical ultrasound shows a left cervical adenopathic conglomerate, 
with multiple adenomegalies (asterisks) of  rounded morphology and 
heterogeneous echoestructure, with no discernible echogenic hilum.
32
and CD68 exhibiting pictures lymphocytophagocytosis/
emperipolesis and erythrophagocytosis.
The clinical-pathological diagnosis of  Rosai-Dorfman 
disease was established. An expectant conservative 
treatment was chosen, with a gradual dimensional 
reduction of  cervical adenomegalies, absent at the previous 
ultrasound reassessment performed approximately one 
year after the initial clinical presentation.
Discussion
Rosai-Dorfman disease is considered a rare histiocytic 
proliferation of  aetiology not yet established, which 
appears more frequently in children and adolescents and 
has a higher incidence in the male gender.1,2
Patients usually present fever, leukocytosis and bilateral 
cervical adenomegalies, which appear on physical 
examination as palpable cervical swellings. However, other 
ganglion territories can be hit.1
It is estimated that 43% of  patients develop extra-ganglion 
manifestations of  the disease, with 75% of  these cases 
occurring in the head and neck region. Possibilities include 
cutaneous involvement of  the nasal cavity, perineal sinuses, 
salivary glands, orbit and central nervous system. The 
prognosis of  these patients is worse than those with only 
lymph node attainment.1,2
The imaging expression of  Rosai-Dorfman disease is 
diverse and varies depending on the organs affected by the 
disease. The most common finding consists of  cervical 
adenomegalies, which appear as enlarged lymph nodes in 
numbers and dimensions in different imaging techniques. 
Computed tomography (CT) and MRI scans usually show 
diffuse contrast enhancement after intravenous contrast 
administration.1,2
In MRI in particular, the adenomegalies present isosinal 
compared to the muscle in the T1 sequences prior to the 
administration of  intravenous contrast, the T2 signal being 
variable according to different bibliographical references. 
Some publications refer hypersignal in T2,2 while others 
mention hyposinal1. In the present case, the cervical 
adenomegalies appear predominantly hyperintense in T2, 
surprisingly, with some areas of  hyposignal.
The most frequently affected perineal sinuses are the 
maxillary and ethmoidal sinuses, with opacification and 
thickening of  the mucosa. In cases of  involvement of  the 
salivary or lachrymal glands, the increase in glandular volume 
is the most common imaging finding, with an intermediate 
intensity signal in T1 and T2 in MR evaluation.1,2
The imaging features previously described are highly 
non-specific for the diagnosis of  Rosai-Dorfman disease. 
However, this entity should be weighed, especially in the 
presence of  bilateral and painless cervical adenomegaly in 
children and adolescents.1,2
In this age group, cervical adenomegalies are mostly related 
to acute or chronic infections of  the upper airway, and the 
differential diagnosis also includes tuberculosis, lymphoma, 
lymph node metastasis and other less prevalent entities 
such as Langerhans cell histiocytosis and Castleman.2,3 
Figure 2 – Magnetic resonance imaging of  the neck. (A) Axial T1 
demonstrates bilateral cervical adenomegalies (arrows) practically 
isointense in comparison with the muscular structures, configuring 
adenopathic conglomerate on the left. (B) Coronal T1 with fat 
saturation and after intravenous contrast reveals intense and 
diffuse enhancement of  adenomegalies. (C) T2 Axial with fat 
saturation and (D) T2 Coronal show adenomegalies mostly with 
T2 hypersignal, and some evident hyposinal areas (asterisks).
Figure 3 – Guided biopsy by ultrasound to left cervical adenopathic 
conglomerate, with a clear image of  biopsy needle (arrow).
Figure 4 – Photomicrography of  cervical ganglion biopsy with lesions 
of  hemophagocytic lymphohistiocytosis in the context of  Rosai Dorfman 
disease. Numerous large histiocytes are observed, exhibiting images of  
lymphocytophagocytosis/emperipolesis (figure A, H & E, 400x) and ery-
throphagocitosis (figure B, H & E, 400x). There is immunoexpression of  
S100 (Figure C, 400x) and CD68 (Figure D, 400x) in the bulky histiocytes.
33
The typical histological feature of  Rosai-Dorfman disease 
is the presence of  emperipolesis, which consists more 
frequently in phagocytosis of  intact lymphocytes, but 
also of  plasmocytes, polymorphonuclear erythrocytes or 
leukocytes by histiocytes, Although emperipolesis is not 
unique to this entity, the immunoexpression of  the S-100 
and CD68 protein supports the diagnosis.2,4
When the diagnosis of  Rosai-Dorfman disease is 
established, the potential involvement of  other organs 
should be weighed.2 In the clinical case described, chest 
radiography and abdominal, renal and pelvic ultrasound 
evaluation revealed no alterations.
The treatment is preferably conservative, with regular 
clinical surveillance. The clinical course is usually benign, 
with exacerbations and remissions, which usually cease 
spontaneously.1,5 In the case of  vital organs being 
affected, therapies such as corticosteroids, chemotherapy, 
radiotherapy or surgical interventions may be necessary.2,3 
There is no evidence of  cases with malignant transformation 
of  this entity.1
In summary, the Rosai-Dorfman disease hypothesis should 
be taken into account for painless cervical adenomegalias 
in children and adolescents. Since the clinical and imaging 
manifestations are non-specific, histological characterisation 
is fundamental in establishing the diagnosis and in the 
orientation and follow-up of  these patients.
Received / Recebido 01/11/2017
Acceptance / Aceite 23/03/2018
Ethical disclosures / Divulgações Éticas
Conflicts of  interest: The authors have no conflicts of  interest to declare.
Conflitos de interesse: Os autores declaram não possuir conflitos de interesse.
Financing Support: This work has not received any contribution, grant or 
scholarship.
Suporte financeiro: O presente trabalho não foi suportado por nenhum 
subsídio ou bolsa. 
Confidentiality of  data: The authors declare that they have followed the 
protocols of  their work center on the publication of  data from patients.
Confidencialidade dos dados: Os autores declaram ter seguido os protocolos 
do seu centro de trabalho acerca da publicação dos dados de doentes.
Protection of  human and animal subjects: The authors declare that the 
procedures followed were in accordance with the regulations of  the 
relevant clinical research ethics committee and with those of  the Code 
of  Ethics of  the World Medical Association (Declaration of  Helsinki).
Protecção de pessoas e animais: Os autores declaram que os procedimentos 
seguidos estavam de acordo com os regulamentos estabelecidos pelos 
responsáveis da Comissão de Investigação Clínica e Ética e de acordo 
com a Declaração de Helsínquia da Associação Médica Mundial.
References
1. La Barge DV, Salzman KL, Harnsberger HR, et al. Sinus histiocytosis 
with massive lymphadenopathy (Rosai-Dorfman disease): imaging 
manifestations in the head and neck. AJR Am J Roentgenol. 2008 
Dec;191:W299-306.
2. Raslan OA, Schellingerhout D, Fuller GN, Ketonen LM. Rosai-
Dorfman disease in neuroradiology: imaging findings in a series of  10 
patients. AJR Am J Roentgenol. 2011 Feb;196:W187-93.
3. Lai KL, Abdullah V, Ng KS, et al. Rosai-Dorfman disease: presentation, 
diagnosis, and treatment. Head Neck. 2013 Mar;35:E85-8.
4. Chandrashekhara SH, Manjunatha YC, Muzumder S, et al. Multicentric 
sinus histicytosis (Rosai-Dorfman Disease): Computed tomography, 
magnetic resonance imaging findings. Indian J Med Paediatr Oncol. 2011 
Jul;32:174-6.
5. Pradhananga RB, Dangol K, Shrestha A, Baskota DK. Sinus histiocytosis 
with massive lymphadenopathy (Rosai-Dorfman disease): A case report 
and literature review. Int Arch Otorhinolaryngol. 2014 Oct;18:406-8.


Doença de Rosai-Dorfman

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Doença de Rosai-Dorfman

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