Cutaneous Rosai-Dorfman Disease Research Articles

Intralesional Kenalog Injections for Recurrent Cutaneous Rosai-Dorfman Disease (RDD) in the Lower Extremity

Rosai-Dorfman disease (RDD) is a rare disorder of histiocytic origin with nodal, extranodal, and cutaneous classifications often presenting as eruptive rashes, most commonly affecting the face, trunk, and thigh. Due to its rarity, no consensus exists regarding standard of care for these lesions, as most knowledge regarding treatment is provided by case reports. To our knowledge, we report the first case of a patient with a recurrent lower extremity mass consistent with cutaneous RDD, despite surgical excision and topical steroids treatment. A 51-year-old female presented with recurrent RDD after failed treatment with clobetasol ointment and surgical excision at an outside practice. Examination revealed violaceous plaques with overlying scale, without lymphadenopathy. With the failure of the previous excision, the patient was prescribed 5 mg/ml intralesional Kenalog (ILK) injections to suppress inflammation of the lesion. She experienced improved clinical response to treatment and remission of active disease with residual post-inflammatory hyperpigmentation at 10 months after two rounds of injections, although the patient reported vast improvement at 5 months as well. Treatment of RDD is difficult due to its rarity, hindering clinical trial development. Therapeutics reported to be efficacious include topical, intralesional, and systemic steroids, retinoids, methotrexate, chemotherapy, cryotherapy, phototherapy, and radiation. Clinical management is variable and often requires multiple forms of treatment on a case-to-case basis, highlighting the need for larger clinical studies to establish a standard of care. Our case poses interest in the use of ILK for RDD and should be considered in recurrent cases after prior surgical excision.

Facial cutaneous Rosai-Dorfman disease: a case report

BackgroundRosai-Dorfman disease (RDD) is a form of non-Langerhans cell histiocytosis in which the activated histiocytes of the lymph nodes and other organs begin to accumulate following excessive production. Bilateral, massive, and painless lymphadenopathy are classic presentations. Systemic RDD is already known to be a rare condition, but isolated cutaneous RDD is extremely rare. We presented a rare and unusual presentations of a disease.Case presentationA 35-year-old Thai female with a 6-month history of a small acne-like lesion that rapidly progressed to 5 cm tumor-like lesions on the face within 3 months. Tissue histology showed a dense dermal infiltration of histiocytes with emperipolesis phenomenon. Immunohistochemistry was positive for S100 protein and CD68 and negative for CD1a. Oral prednisolone (50 mg/day) was initiated with a favorable outcome at the one-month follow-up. However, prednisolone yielded a partial response at 2-month follow-up, leading to application of another modality.ConclusionAlthough cutaneous Rosai-Dorfman disease is considered benign and well medical responded disease, patients with atypical presentation and rapid growing lesion may necessitate aggressive multimodal treatment.

Unusual presentation of extranodal Rosai-Dorfman disease: A scalp lump

Rosai-Dorfman disease (RDD) is a benign and idiopathic proliferative histiocytic disorder that typically manifests with extensive cervical lymphadenopathy, fever, polyclonal gammopathy, and leukocytosis with neutrophilia. However, the purely cutaneous variant of RDD is exceptionally uncommon, occurring in only 3% of all RDD cases. In this abstract, we present a rare case of RDD exhibiting a purely cutaneous form. The patient, a 40-year-old male, presented with a scalp lump. Diagnostic investigations, including histopathological examination, confirmed the diagnosis of RDD. No lymphadenopathy or systemic involvement was detected, highlighting the uniqueness of the cutaneous presentation. The rarity of pure cutaneous RDD underscores the significance of reporting such cases to enhance our understanding of the diverse clinical manifestations of this condition. Awareness of this atypical presentation is crucial for accurate diagnosis and appropriate management, as the treatment approach for purely cutaneous RDD may differ from the more common systemic forms. Through this case report, we aim to contribute to the existing medical literature on RDD, emphasizing the need for careful evaluation of skin lesions to include RDD in the differential diagnosis, even in the absence of lymphadenopathy or systemic symptoms. Further research and documentation of similar cases will undoubt­edly advance our knowledge of this intriguing disease and aid clinicians in providing optimal patient care.

Rosai-Dorfman Disease With Pure and Multifocal Cutaneous Lesions: A Case Report

A 52‐year‐old woman developed progressive infiltrated purple and hyperpigmented cutaneous lesions in the face, thighs, armpits, chest, and abdomen evolving forone year. Histopathological examination showed large histiocytes exhibiting intact inflammatory cells in their cytoplasm (emperipolesis). Immunohistochemical analyses showed that the histiocyte population was positive for S100 and CD68, but negative for CD1a. Based on the clinical, histopathological, and immunohistochemical findings, we made the diagnosis of Rosai Dorfman disease (RDD). Our patient didn’t manifest any other extra-cutaneous involvement and all the biological and radiological investigations were normal. This form of pure cutaneous RDD (P-CRDD) with multifocal lesions has been rarely reported. RDD is very rare and hardly recognized in the absence of lymphadenopathy. The diagnosis of this entity involves a combination of histology and immunohistochemistry. To date, there is no standard treatment.

The evaluation of IgG4 and IgG expression in cutaneous Rosai-Dorfman disease

ObjectiveThe authors investigated the expression of IgG4 and IgG in cutaneous Rosai-Dorfman Disease (CRDD) to further improve the understanding of this disease. MethodsThe authors retrospectively reviewed the clinicopathological features of 23 CRDD patients. The authors diagnosed CRDD by the presence of emperipolesis and immunohistochemical (IHC) staining of histiocytes consisting of S-100(+)/CD68(+)/CD1a(-) cells. The expressions of IgG and IgG4 in cutaneous specimens were assessed by IHC (EnVision) and quantitatively calculated by a medical image analysis system. ResultsAll 23 patients, including 14 males and 9 females, were confirmed to have CRDD. Their ages ranged from 17 to 68 years (mean 47.91 ± 14.16). The most frequently affected skin regions were the face, followed by the trunk, ears, neck, limbs, and genitals. In 16 of these cases, the disease presented as a single lesion. IHC staining of sections showed that IgG was positive (≥ 10 cells/High-Power Field [HPF]) in 22 cases, while IgG4 was positive (≥ 10 cells/HPF) in 18 cases. Moreover, the IgG4/IgG proportion ranged from 1.7% to 85.7% (mean 29.50 ± 24.67%, median 18.4%) in the 18 cases. Study limitationsIn the majority of studies, as well as in the current study, the design. RDD is a rare disease, so the sample size is small. In the next studies to come, the authors will expand the sample for multi-center verification and in-depth study. ConclusionThe positive rates of IgG4 and IgG and the IgG4/IgG ratio assessed through IHC staining may be important in understanding the pathogenesis of CRDD.

Treatment of purely cutaneous ​Rosai-Dorfman disease with topical rapamycin.

Purely cutaneous Rosai–Dorfman disease is a self-limiting and benign histiocytosis; however, some patients may be concerned about the aesthetic appearance, with a negative effect on quality of life. Even though many treatments have been proposed, no specific therapies are available and there is insufficient evidence supporting the superiority of any particular approach. Here we report the improvement of purely cutaneous Rosai–Dorfman disease with topical rapamycin.

Hairpin vessels in purely cutaneous Rosai-Dorfman disease of the face: A case report

Rosai-Dorfman disease (RDD) is a benign non-Langerhansian histiocytosis mainly affecting lymph node areas. Although cutaneous involvement in RDD is common, purely cutaneous disease is rare and poorly documented. We report the case of a 25-year-old female patient presenting with a 6-month history of a slow-growing asymptomatic lesion of the right cheek mimicking a cutaneous sarcoidosis. The aim of this article is to describe this rare entity with the presentation of a new dermoscopic finding: the hairpin vessels. We also highlight the differential diagnosis with sarcoidosis.

Apple-Jelly Nodules of Cutaneous Rosai-Dorfman Disease.

Apple-Jelly Nodules of Cutaneous Rosai-Dorfman Disease.

Cutaneous Rosai-Dorfman Disease – A Case Report and Review of Literature

Rosai–Dorfman disease (RDD), or Sinus Histiocytosis with Massive Lymphadenopathy (SHML) is a self-limiting, rare benign proliferative disorder of histiocytes in the lymph nodes with occasional extra-nodal involvement of the skin. Isolated Cutaneous Rosai-Dorfman disease(C-RDD) without node involvement is an exceedingly rare occurrence. Despite its unique characteristics, the diagnosis of Cutaneous Rosai Dorfman disease is hampered by its variable clinical presentation, misleading histopathological patterns, and the absence of lymphadenopathy. Herein we present a case report of Cutaneous Rosai-Dorfman disease without any lymph node involvement.

A study on surgical resection of cutaneous Rosai－Dorfman disease

A study on surgical resection of cutaneous Rosai－Dorfman disease

A rare case of pure cutaneous Rosai-Dorfman disease

Rosai-Dorfman disease (RDD) is a rare but usually benign non-Langerhans cell histiocytic disorder which commonly affects lymph nodes and frequently present with bilateral painless enlarged cervical lymph nodes with systemic symptoms. Although extra nodal tissue involvement is seen in considerable proportion, purely cutaneous involvement without affecting lymph nodes is very rare and forms a diverse clinical entity. Histopathology with immunohistochemical staining remains gold standard in diagnosing this rare entity. Different treatment modalities have been tried in case reports and treatment response is variable. Here we report a case of pure cutaneous RDD in a 21-yearold young female who was referred for staged excision.

PULMONARY ROSAI-DORFMAN DISEASE WITH NO LYMPH NODE INVOLVEMENT

TOPIC: Lung Pathology TYPE: Fellow Case Reports INTRODUCTION: Histiocytosis is a disorder when a collection of hematopoietic-derived cells multiply without regulation but is not considered malignant. The most recent classification was laid out by the World Health Organization in 2016 dividing them into multiple groups. Rosai-Dorfman disease typifies the R group and is unique in its presentation ranging from a solitary lesion or multifocal, systemic disease. CASE PRESENTATION: A 74-year-old male of African descent with a past medical history significant for tobacco abuse presented to the emergency department with hemoptysis that started 2 days prior to presentation. Patient was seen as outpatient due to hemoptysis in the past and CT chest showed a 4.2 cm mass in the left lower lobe, no lymphadenopathy; confirmed by another CT Chest in the emergency department. PET/CT at that time showed the mass had increased 18-FDG uptake with SUV 26.4. There was very high suspicion for lung carcinoma and bronchoscopy showed a friable, bleeding, pedunculated mass occupying LLL basal segmental airway. The mass was removed using a snare and forceps and the tumor base was cauterized with argon plasma coagulation. Pathology report of the mass showed proliferation of histocytes with immunostaining positive for S100 and CD68, but negative for CD1a consistent with the diagnosis of Rosai-Dorfman disease. The patient was started on definitive radiation therapy with resolution of his symptoms. DISCUSSION: Rosai-Dorfman disease (RDD) is a rare histiocytosis that is characterized as being multisystemic. First described in 1969 by Rosai and Dorfman, this was described as self-limiting painless lymph node enlargement seen in teenagers and young adults. Our patient presented in his late 70's and was of African descent. Recent publications coming from China with 25 cases of RDD showed that extranodal presentation less common in Asians compared to white/black patients, and the mean age was 45 years old. Pulmonary involvement of RDD usually involves mediastinal lymphadenopathy which our patient did not have; the PET/CT showed the disease was limited to the mass in the left lower lobe. Differentiating RDD with this presentation from malignant lung disease, especially on a patient with significant smoking history, is challenging. Histopathology will give the diagnosis - in RDD S-100 and CD68 are the common positive markers with negative CD1a ruling out Langerhans cell histiocytosis. Treatment with radiation therapy is described for localized disease-causing symptoms, our patient has had a good response with resolution of his symptoms. CONCLUSIONS: RDD is very rare to present in lungs alone with no lymphadenopathy and this presentation is difficult to differentiate from malignancy. Diagnosis is based on tissue sampling with immunohistochemistry staining characterized by (+) S-100 and CD68 with (-) CD1a. Radiation therapy is an effective treatment for symptomatic localized disease. REFERENCE #1: Abla O, Janka G. Histiocytic Disorders Cham: Springer International Publishing AG; 2017:30-33 REFERENCE #2: Ali A, Mackay D. Rosai-Dorfman disease of the lung. Thorax. 2009;64(10):908-909 REFERENCE #3: Kong Y, Kong J, Shi D et al. Cutaneous Rosai-Dorfman disease a clinical and histopathologic study of 25 cases in China. The American journal of surgical pathology. 2007;31(3):341-350 DISCLOSURES: No relevant relationships by Alfredo Iardino, source=Web Response No relevant relationships by Jill Ono, source=Web Response No relevant relationships by Arthur Oliver Romero, source=Web Response No relevant relationships by Ipsita Samanta, source=Web Response

Cutaneous Rosai-Dorfman disease: A case report

Pure cutaneous Rosai-Dorfman is distinguished from classic Rosai-Dorfman disease by isolated skin involvement without lymphadenopathy or systemic symptoms. Herein, we report a case of a 30 year-old-man with 16 months history of a slowly enlarging, asymptomatic, purple plaque on her left cheek following cutaneous leishmaniasis successfully treated. The histopathological examination showed dense infiltration of inflammatory cells involving the entire dermis, consisting of large macrophages with emperipolesis, S100 and CD68 positive, lymphocytes and plasma cells. The patient was treated with intralesional triamcinolone with a significant improvement. The present article aimed to emphasise the clinical, histological differential diagnosis and to share the tumoral presentation of cutaneous Rosai-Dorfman disease.

Cutaneous Rosai-Dorfman disease: a case report of disease limited only to skin

Rosai – Dorfman disease is a disorder of histiocytic proliferation that can affect almost every organ. Skin may be involved in about 10% cases, but only 3% of patients have skin lesions exclusively. Patients with CRDD usually are healthy, without leading constitutional or other symptoms. Etiology of this disease is unclear, but it might be triggered by an infectious agent such as Herpesvirus 6 and Epstein-Barr virus, there is also predisposition to autoimmune diseases, hematological malignancies. In our case patient was diagnosed with Borrelia burgdorferi infection. Any known association between this infection and Rosai – Dorfman disease was not described before. The disease may manifest in any age group. The differential diagnosis includes Langerhans cell histiocytosis, metastasis, Hodgkin’s lymphoma and other diseases. Disease usually resolves spontaneously over a period of months to years. Treatment should be administered in non-responsive or multiple relapsing cases. Also, it is very important to take into consideration the patient’s expectations and aesthetic appearance before making a treatment decision. Various treatment options are described, including surgical excision, cryotherapy, corticosteroids, antibiotics, Methotrexate, Dapsone. In our case, we used CO2 laser treatment successfully. To our knowledge, this is only the second case where CRDD lesions were treated successfully with CO2 laser.

Cutaneous Rosai-Dorfman Disease: A Treatment Challenge.

Rosai-Dorfman disease (RDD) is a benign histiocytosis that rarely manifests as a purely cutaneous form. Its differential diagnosis and treatment can pose a challenge to both clinicians and pathomorphologists. We present the case of a 69-year-old woman with cutaneous RDD presenting as multiple nodules on the right thigh who was treated with low-dose methotrexate weekly for > 1 year with a partial response.

NRAS Mutations May Be Involved in the Pathogenesis of Cutaneous Rosai Dorfman Disease: A Pilot Study.

Background: Purely cutaneous Rosai-Dorfman disease (RDD) is a rare histiocytic proliferative disorder limited to the skin. To date, its pathogenesis remains unclear. Owing to recent findings of specific mutations in the mitogen-activated protein kinase/extracellular signal-regulated kinase (MAPK/ERK) pathway in histiocytic proliferative disorders, it provides a novel perspective on the pathomechanism of cutaneous RDD. We aim to investigate the genomic mutations in MAPK/ERK pathway in cutaneous RDD. Methods: We retrospectively recruited all cases of cutaneous RDD from two hospitals in Taiwan from January 2010 to March 2020 with the clinicopathologic features, immunohistochemistry, and treatment. Mutations of neuroblastoma RAS viral oncogene homolog (NRAS), Kirsten rat sarcoma 2 viral oncogene homolog (KRAS), and v-raf murine sarcoma viral oncogene homolog B1 (BRAF) in MAPK/ERK pathway were investigated by the highly sensitive polymerase chain reaction with Sanger sequencing. Results: Seven patients with cutaneous RDD were recruited with nine biopsy specimens. The median age was 46 years (range: 17–62 years). Four of seven patients (57.1%) received tumor excision, while the other three chose oral and/or topical or intralesional steroids. NRAS mutation was detected in 4 of 7 cases (4/7; 51.7%), and NRAS A146T was the most common mutant point (n = 4/7), followed by NRAS G13S (n = 2/7). There is no KRAS or BRAF mutation detected. Conclusions: We report the NRAS mutation is common in cutaneous RDD, and NRAS A146T was the most frequent mutation in this cohort. Mutations in the NRAS gene can activate the RAS/MAPK signaling and have been reported to be associated with various cancers. It indicates that NRAS mutation in MAPK/ERK pathway may involve the pathogenesis of cutaneous RDD.

Dermoscopic and reflectance confocal microscopic findings of cutaneous Rosai-Dorfman disease.

Dermoscopic and reflectance confocal microscopic findings of cutaneous Rosai-Dorfman disease.

Cutaneous Rosai-Dorfman Disease Showing Pruritic Macules

Cutaneous Rosai-Dorfman disease (CRDD) is a rare skin-limited form of Rosai-Dorfman disease, a benign histiocytic proliferative disorder commonly affecting lymph nodes. Here, we report a case of CRDD characterized by pruritic reddish-brown macules, which we initially misdiagnosed as post-inflammatory pigmentation due to uremic dermatitis. A 64-year-old Japanese man was referred to us with an 8-month history of pruritic eruption located in the trunk and limbs. He had been receiving dialysis for chronic renal failure for 24 years. Physical examination revealed multiple reddish-brown macules measuring 1–10 cm in diameter with scratch marks irregularly distributed on the trunk and limbs. Pruritic score on the Numeric Rating Scale (NRS) was 9 out of 10. The patient displayed no extracutaneous involvements such as lymphadenopathy, fever or weight loss. Histopathological examination of the reddish-brown macules showed dense infiltration of histiocytes with lymphocytes and plasma cells in the dermis covered by epidermis with a faintly pigmented basal layer. Some histiocytes had taken in red blood cells, representing so-called emperipolesis. Immunohistochemical analyses of histiocytes showed reactivity to anti-S-100 protein antibodies and anti-CD68 antibodies, but not to anti-CD1a antibodies. Based on these findings, CRDD was diagnosed. This case suggests that CRDD may present with: i) macular lesions in the active phase; and ii) severe pruritus.

Cutaneous Rosai–Dorfman disease in a 42-year-old woman: a rare case report

Rosai-Dorfman disease (RDD) is a histiocytic disorder that has only a skin implication in a very small percentage of cases. RDD is usually painless and accompanied by disseminated lymphadenopathy. We present a rare case of a female patient that complained of grouped skin papules localized on the left leg, associated with a palpable deep nodular lesion. Initially, this was clinically mistaken for a soft tissue sarcoma, but after a total body CT and surgical excision it was identified as a non-Langerhans cell benign histiocytosis known as RDD. The patient had neither recurrence nor systemic involvement after 7 months of follow-up.

An unusual presentation of cutaneous Rosai Dorfman Disease in a child

Introduction: Rosai-dorfman disease (RDD) is a self-limiting, non-Langerhans cell histiocytosis of unknown etiology. It was originally thought to involve only the lymph nodes, however recent literature suggests extranodal involvement as wel. Case Report: Herein we report a case of cutaneous RDD in a six year-old girl, presenting with multiple subcutaneous nodules. Discussion: Cutaneous RDD is an extremely rare entity and unlike classic RDD, it has a predilection for the age group above 40 years and is more common in females. It is extremely rare in children.