Rosai-Dorfman disease with isolated lacrimal gland enlargement.

Rosai-Dorfman Disease also called as Sinus Histiocytosis with Massive Lymphadenopathy is a rare, benign, idiopathic histiocytic proliferative disorder that occurs predominantly in children and young adults. Orbital involvement can occur in 11% of cases. Isolated lacrimal gland involvement without any local or systemic recurrence is very rare. To the best of our knowledge, only seven cases have been reported in the literature till date. Histopathological and immunohistochemical confirmation is essential in establishing the diagnosis. A benign course is usual, but in some cases, blindness or even fatality may result. We report a case of 30-year-old female with isolated lacrimal gland involvement and 19 months' follow-up.

Introduction

Lacrimal gland lesions represent 5%–35% of orbital lesions.[1] Even though majority of lesions are inflammatory in nature, it is very difficult to determine the exact nature of inflammation when a patient presents with isolated lacrimal gland involvement without any systemic features. Tissue biopsy and further tests are often necessary in such cases.

In this report, we present a case of Rosai–Dorfman Disease (RDD) presented with isolated lacrimal gland enlargement.

Case Report

A 30-year-old female presented with complaints of a gradually increasing swelling in the right upper lid and blurring of vision for 3 weeks. She was 2-months postpartum with no history of fever, pain, or any other mass anywhere in the body. On examination, the best-corrected visual acuity in both eyes was 20/20, N6. The left eye was normal. External examination revealed fullness in the sub-brow area on the right side laterally. On palpation, there was an ill-defined mass in the lacrimal gland area of size 25 mm × 20 mm. It was firm, nontender, and immobile. There was a limitation of elevation and abduction. Pupil, color vision, and visual fields were normal. The intraocular pressure was 18 mm of Hg in the right eye and 14 mm of Hg in the left eye. Fundus evaluation showed choroidal folds at the macular area. Computed tomography [Figure 1a and b] scan of the orbits demonstrated a well-defined extraconal heterogeneously enhancing mass in the right superolateral quadrant involving the lacrimal gland and indenting the globe. The superior and lateral rectus muscle were seen separate from the mass. Bones and sinuses were normal. The left orbit was normal.

Figure 1

(a) Computed tomography scan (plain) showing a well-defined extraconal mass involving the lacrimal gland with globe indentation. (b) Computed tomography scan demonstrating uniform contrast enhancement of the mass

An excisional biopsy was performed through a lateral orbitotomy by a sub-brow incision. The lesion was excised in two parts with the larger one measuring 21.5 mm × 18 mm × 10 mm and the smaller one measuring 8 mm × 4 mm × 3 mm [Figure 2a and b]. The excised mass was firm, lobular, and yellowish. The histopathological examination [Figure 3a] revealed lacrimal gland tissue and a dense polymorphous infiltrate composed of histiocytes, lymphocytes, and plasma cells. The histiocytes had a pale vacuolated pattern and demonstrated the phenomenon of “emperipolesis” or lymphocyte phagocytosis. Immunohistochemistry (IHC) [Figure 3b] exhibited S100 and CD68 positivity. Based on the reports, the diagnosis of lacrimal gland RDD was made. She was sent to an internist to rule out any systemic involvement, and it was negative. The patient is asymptomatic at 19 months' follow-up.

Figure 2

(a) Excisional biopsy through lateral orbitotomy by sub-brow incision. (b) Excised specimen

Figure 3

(a) Histopathology (H and E, ×10) showing pale histiocytes exhibiting lymphocyte phagocytosis or emperipolesis (arrow). (b) Immunohistochemistry showing S-100 positivity

Discussion

Important findings, in this case, were of a painless lacrimal gland mass in a young female, the mass causing pressure effects in the form of choroidal folds clinically and globe indentation in imaging. The diagnosis was made based on the histopathological and immunohistological examination of the specimen.

RDD was first introduced by Destombes,[2] but later, it is renamed as Sinus Histiocytosis with Massive Lymphadenopathy by Rosai and Dorfman who described four cases in 1969 and came to be known as RDD.[3] Extranodal disease has been reported in up to 43% cases which may be extensive and commonly involves the respiratory tract, paranasal sinuses, visceral organs, skin, bone, central nervous system, genitourinary tract, and orbit. In the orbit, the most common manifestation is intra- or extra-conal mass with proptosis. Mostly, lacrimal gland involvement occurs as part of systemic disease. Isolated involvement is very rare. Out of the seven isolated cases[4567] reported so far, three patients had bilateral disease[4] and rest had unilateral disease. There were six males and two females.[4] The age group ranged from 7 to 72 years. Ours is a female patient with unilateral involvement.

The exact etiology is uncertain. Epstein–Barr virus and human herpes virus six have been implicated.[8] Since our case presented 2 monthspostpartum, literature search has been done to know whether pregnancy has any effect on the disease. Exacerbations during pregnancy have been reported which is assumed to be due to associated immunosuppression.[9]

Lacrimal gland RDD causing pressure effects on the eyeball in the form of choroidal folds and globe indentation has not been noticed before. Diffuse orbital RDD and intracranial RDD can lead to blindness[10] from proptosis, optic neuropathy, and cavernous sinus involvement. Typically, the clinical course is unpredictable. RDD can undergo spontaneous remission after a protracted course but may develop recurrences. In our case, no recurrence or any lymphadenopathy was noted in a follow-up of 19 months. The visual acuity was maintained at 6/6 on final visit. The reason is that the mass will usually cause a transient deformation of sclera[11] leading to choroidal folds which disappeared later in the follow-up.

The diagnosis is based on the presence of large histiocytic cells with emperipolesis. Emperipolesis means the presence of intact lymphocytes, plasma cells, erythrocytes, or polymorphonuclear leukocytes engulfed within the cytoplasm of the histiocytes. Extranodal RDD can exhibit prominent fibrosis, and this mimics fibrohistiocytic tumors or sclerosing inflammation. Immunohistochemically, the histiocytes express S-100 and CD68 and are negative for CD1a (a marker for Langerhans' histiocytosis). IHC is essential in establishing the final diagnosis.

The management protocol in RDD has not yet standardized. It varies from observation, surgical excision, debulking, local or systemic corticosteroid therapy, radiotherapy, and antimetabolites.[4] Our patient underwent complete surgical excision through lateral orbitotomy with total removal of the lesion. All reported isolated lacrimal gland RDD underwent excisional biopsy, and none of them had any recurrence on the final visit. Lesions with no functional or cosmetic defect can be observed. Surgical excision is employed for large lesions with functional or cosmetic deficits. In debulking, the residual lesions can be treated with local or systemic corticosteroids or radiotherapy. Antimetabolites are employed for recalcitrant lesions and also for sight-threatening optic neuropathy. Regular follow-up with hematologist is mandatory to look for local or systemic recurrence.

Conclusion

RDD has to be considered in the differential diagnosis of young patients presenting with isolated unilateral, painless lacrimal gland enlargement. Even though rare, exact diagnosis will help in the follow-up and detection of early recurrences.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.