Diagnostic consideration of lipoma-like lesion: A case report of primary cutaneous Rosai-Dorfman disease

Abstract

Introduction and importance

Rosai-Dorfman disease (RDD) is a rare disorder characterized by benign histiocytic proliferation. The purely cutaneous variant of Rosai-Dorfman disease is exceptionally uncommon. This abstract centers on an extraordinary case—an instance of primary cutaneous Rosai-Dorfman disease (PCRDD), a rare cutaneous variant within an already infrequent disorder. Successfully managed through surgical intervention, this unique case underscores the pressing need for refined diagnostic and therapeutic strategies.

Case report

We present a noteworthy case of primary cutaneous Rosai-Dorfman disease (PCRDD) in a north African female, deviating from the typical age of onset. The patient exhibited a rare cutaneous variant, emphasizing the need for heightened awareness in diverse demographics. Histological analysis revealed characteristic emperipolesis and immunohistochemical features consistent with RDD.

Clinical discussion

PCRDD, although uncommon within the Rosai-Dorfman Disease spectrum, manifests with a later onset and distinctive demographic characteristics. Surgical excision emerges as a viable therapeutic option for managing symptomatic lesions, as demonstrated in our case. The infrequency of PCRDD underscores the importance of tailored diagnostic and therapeutic strategies. Individualized approaches become pivotal in addressing the complexities associated with PCRDD, ensuring careful consideration of its intricacies in the broader context of Rosai-Dorfman disease.

Conclusion

This case underscores the complexity of RDD, especially in rare cutaneous presentations. Surgical excision, with its reported efficacy, stands as a crucial intervention, offering both symptomatic relief and potential cure, showcasing the significance of individualized care in managing this rare disorder. Continued research remains imperative for advancing RDD understanding and refining clinical approaches.

Highlights

• •Rosai-Dorfman disease (RDD) is a rare condition primarily characterized by massive lymphadenopathy, with cutaneous variants accounting for only 3% of cases.
• •Surgical excision emerges as a crucial treatment strategy for managing symptomatic RDD lesions, demonstrating an impressive 80% cure rate.
• •Challenges in RDD diagnosis underscore the need for continued research to enhance diagnostic precision and therapeutic strategies, particularly in rare cutaneous presentations.
• •Despite lacking a specific treatment protocol, ongoing investigations into underlying pathogenesis and novel therapies offer promise for improving RDD management.

1. Introduction

Rosai-Dorfman disease (RDD) is an uncommon condition initially documented by Destombes in 1965 [1,2]. Subsequently, in 1969, Rosai and Dorfman identified it as a separate entity, naming it sinus histiocytosis with massive lymphadenopathy [1,2]. Given the rarity of the disorder, the precise cause of RDD remains unclear at this time [2,3]. Nonetheless, the purely cutaneous form of the condition is extremely uncommon, manifesting in only 3 % of Rosai-Dorfman disease cases [4]. Presently, the treatment strategy for cutaneous variants remains inadequately defined [2,5].

This case report highlights a unique presentation of Rosai-Dorfman disease, specifically in its rare cutaneous form. The patient demonstrated distinctive skin lesion, conspicuously devoid of lymph node involvement or systemic symptoms. The exceptional nature of this exclusive cutaneous manifestation underscores the challenges associated with diagnosis and treatment, given its infrequency and the limited understanding of optimal therapeutic approaches. Notably, successful surgical management played a pivotal role in addressing the specific challenges posed by this uncommon presentation, underscoring the significance of tailored interventions in effectively managing the disease in its distinctive cutaneous variant. This work has been reported in line with the SCARE 2023 criteria [6].

2. Case presentation

This concerns a 40-year-old patient with no significant medical or surgical history, presenting to our outpatient clinic due to the progressive onset of a painless scalp swelling evolving over the past 3 years. The patient's history did not reveal any instances of trauma, prior surgery, or general health compromise. The lesion, measuring 7 by 5 cm, was soft and non-tender upon palpation. It exhibited fixation to the deep plane (Fig. 1). No systemic symptoms such as fever, weight loss, or malaise were noted, and there was no evidence of lymphadenopathy during the examination.

Fig. 1.

A subcutaneous mass clinically suggestive of a lipoma.

All relevant laboratory results, including serum protein electrophoresis, complete blood count with differential, and erythrocyte sedimentation rate, were within normal limits.

The additional exploration by ultrasound of the soft tissues concluded with the identification of a subcutaneous formation measuring 7 cm along its major axis, with well-defined contours and no blood flow observed on Doppler.

The scalp lesion exhibited benign characteristics, being soft, non-fixed to deeper planes, and non-painful. Based on the ultrasound findings confirming these features, we leaned towards diagnosing a scalp lipoma. Its aesthetic concern prompted the decision for surgical intervention.

The patient underwent surgery under local anesthesia. During the exploration, a superficial mass measuring 7 cm along its major axis was identified, exhibiting characteristics consistent with a lipoma. Careful attention was paid to ensure that the excision procedure did not extend beyond the healthy tissue boundaries, thereby avoiding any involvement of the galea or periosteum. The surgical excision was meticulously performed, with precise dissection to completely remove the mass while preserving surrounding structures. Closure of the subcutaneous and skin layers was carried out using appropriate techniques to achieve optimal wound healing and cosmesis. Postoperatively, the patient's recovery was uneventful, and the aesthetic result was deemed satisfactory upon follow-up evaluation. The macroscopic appearance initially suggested a lipoma, but histologic evaluation revealed a proliferation of tumor cells exhibiting a non-Langerhansian benign histiocytic appearance. Subsequent pathological examination definitively diagnosed Rosai-Dorfman disease, characterized by histiocytes engaging in emperipolesis, a phenomenon involving the phagocytosis of lymphocytes, plasma cells, erythrocytes, and polymorphonuclear leukocytes without digestion. Importantly, the absence of CD1a expression was noted, a crucial feature distinguishing this form of histiocytosis from others (Figs. 2+3).

Fig. 2.

Histiocyte infiltration associated with plasma cells, and lymphoid.

Fig. 3.

Histiocytic cells (yellow arrow) with emperipolesis (white arrow). (For interpretation of the references to color in this figure legend, the reader is referred to the web version of this article.)

The patient's postoperative course was favorable, marked by the absence of recurrence or the development of new nodules during the one-year follow-up. Notably, the patient was discharged on the first postoperative day. Significantly, there were no signs of systemic involvement, emphasizing the effectiveness of surgical management in adeptly addressing the complexities associated with this uncommon cutaneous variant of Rosai-Dorfman disease.

3. Discussion

Rosai-Dorfman disease (RDD), also referred to as Sinus Histiocytosis with Massive Lymphadenopathy (SHML), is distinguished by a benign proliferation of histiocytes [2,7]. Although initially documented in 1965, it was officially recognized as a distinct clinical entity in 1969 [2].

The etiopathogenesis of RDD remains uncertain, with potential links to a specific infection or immunodeficiency [1,8]. One postulated mechanism involves underlying immune dysfunction [1]. Various infectious agents, including human herpesvirus 6, Epstein-Barr virus, cytomegalovirus, and bacteria such as Klebsiella and Brucella, have been considered as potential causative agents [2]. The association between RDD and IgG4 disease has been a topic of controversy [2].

The common clinical manifestation includes painless and substantial cervical lymphadenopathy, frequently observed bilaterally [4]. This presentation is often accompanied by fever, leukocytosis, an elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia [2,4]. The disease tends to affect young adults, with a mean age of 20.6 years, although it can occur in individuals of any age [9]. Extranodal manifestations of Rosai-Dorfman disease (RDD) affecting the skin, nasal cavity, paranasal sinus, eye, ocular adnexa, bone, central nervous system, liver, and heart constitute approximately 25 % to 40 % of all cases [2]. These manifestations pose diagnostic challenges for both clinicians and pathologists who may be unfamiliar with the condition [2,4].

While the skin is frequently cited as the primary site of extranodal manifestation, the occurrence of isolated or primary cutaneous Rosai-Dorfman disease (PCRDD) without lymph node involvement is exceptionally rare, constituting merely 3 % of all documented cases of RDD [1,2]. PCRDD typically manifests at a later onset, with a median age of 43.5 years, in contrast to RDD in general, which has a median onset age of 20.6 years [2,9]. Moreover, cutaneous RDD is more prevalent in females (2:1) and predominantly affects individuals of Asian and Caucasian ethnic backgrounds [2,9]. The majority of RDD cases have been documented in patients of African ethnicity, resembling the demographic profile of our north African female patient [2]. Remarkably, our patient presented with an uncommon skin involvement at an age younger than the median onset age for this manifestation.

The histological signature common to both systemic and primary cutaneous Rosai-Dorfman disease is characterized by the proliferation of polygonal histiocytes exhibiting distinctive emperipolesis, wherein the cytoplasm of histiocytes appears to engulf lymphocytes, red blood cells, and/or granulocytes [2,3,8]. Additionally, mixed inflammatory infiltrates containing histiocytes, lymphocytes, and plasma cells are observed [2,8,10]. Immunohistochemically, histiocytes in these lesions typically demonstrate positive staining for S-100 and CD68, while CD1a shows negative staining [2,8]. These characteristic immunohistochemical features align with the findings in our specific case.

PCRDD is characterized as a self-limiting and benign disorder, and currently, there is no specific treatment protocol established [7]. Treatment options encompass cryotherapy, surgical intervention, methotrexate administration, as well as systemic or topical corticosteroids [2,7]. These therapeutic modalities are offered to patients presenting with clinical symptoms such as pruritus, tenderness, or those seeking enhancement in aesthetic appearance such as our patient [2]. Surgical excision emerges as a recommended course of action when dealing with symptomatic lesions exhibiting involvement of vital organs or extranodal disease that is deemed potentially resectable [5]. In such instances, surgical intervention is considered the most efficacious approach, given its capacity to address symptomatic manifestations and target lesions in vital areas [2]. Notably, the reported cure rate associated with surgical excision stands at an impressive 80 %, underlining the effectiveness of this treatment strategy [4].

In the context of our specific case, surgical excision proves particularly relevant. For lesions presenting in vital organ involvement or extranodal disease that is amenable to resection, this approach becomes a pivotal component of the therapeutic plan [4,10]. The 80 % reported cure rate reinforces the significance of surgical excision in achieving favorable outcomes, and its application in our case could contribute to both symptomatic relief and the potential for a successful resolution of the cutaneous variant of Rosai-Dorfman Disease [4].

Options such as systemic corticosteroids, methotrexate, and targeted immunotherapy have shown promise in some cases and merit further investigation for their efficacy and safety profiles in RDD management. Additionally, ongoing research focusing on elucidating the underlying pathogenesis, identifying potential biomarkers, and developing novel targeted therapies holds promise for improving diagnostic accuracy and refining therapeutic strategies in this rare disorder.

4. Conclusion

In conclusion, Rosai-Dorfman disease (RDD) poses diagnostic challenges due to its diverse manifestations [2,8]. Our north African female patient's unique case, presenting with an uncommon cutaneous variant at a younger age, emphasizes the rarity and distinctive characteristics of RDD. Histologically, the observed emperipolesis and immunohistochemical features align with the typical findings in RDD [8,9]. While Primary Cutaneous RDD lacks a specific treatment, our case underscores the potential benefits of surgical excision. The broader implications of our findings emphasize the need for continued research to enhance diagnostic precision and therapeutic strategies for RDD, particularly in rare cutaneous presentations.

Patient consent

Written informed consent was obtained from the patient for the publication of this case report and its accompanying images. A copy of the written consent is available for the Editor-in-Chief of this journal to review upon request.

Grant information

The author(s) declared that no grants were involved in supporting this work.

Declaration of generative AI in scientific writing

AI tools were not used for the elaboration of the manuscript.

Ethical approval

Ethical approval is not applicable/waived at our institution.

Funding

This research did not receive funding from any specific grant provided by public, commercial, or not-for-profit organizations.

Author contribution

MDT and AO contributed to manuscript writing and editing, and data collection.

FG and WF contributed to data analysis.

NH and MBK contributed to conceptualization and supervision.

All authors have read and approved the final manuscript.

Guarantor

Dr. Ahmed Omry.

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Conflict of interest statement

No conflicts of interest.