Disseminated nontuberculous mycobacterial infection with concurrent cutaneous Rosai–Dorfman disease

Treatment of multifocal cutaneous Rosai-Dorfman disease with radiotherapy

Rosai-Dorfman disease (RDD) is a rare but distinctive clinicopathologic entity of unknown etiology affecting lymph nodes as well as extranodal sites. Although cutaneous involvement in RDD is common, purely cutaneous disease is rare and not well documented. We report 22 patients with cutaneous and superficial subcutaneous RDD. The lesions presented as papules and nodules, often with discoloration (9/22) and frequent multifocality (13/22), without predilection for a specific site of the body. Age distribution was wide and ranged from 15 to 68 years, with a median of 43.5 years. Of the 17 patients for whom information on racial background was available, 7 were Asian, 8 were white, and 2 were black, with a marked female predominance (2:1). The lesions resolved in 6 of 13 patients for whom follow-up data were available, regardless of the treatment given. Lesions persisted or recurred in 7 patients. Histologically, the lesions are invariably characterized by a proliferation of polygonal S100-positive histiocytes showing emperipolesis and a mixed inflammatory infiltrate. This study characterizes the histologic spectrum of cutaneous RDD in regard to variation in the numbers of typical S100-positive histiocytes and emperipolesis, variation in the quality and quantity of the inflammatory response, and the degree of stromal fibrosis, which resulted in a strikingly storiform growth pattern in six lesions and a lobulated pattern in two lesions. Whereas the clinical as well as histologic appearance of the cutaneous and subcutaneous lesions in the purely extranodal forms of RDD is indistinguishable from that of systemic RDD, this study emphasizes that purely cutaneous RDD is a distinct clinical entity in regard to its epidemiology and remains localized to the skin even with long-term follow-up. Patients with purely cutaneous RDD are of an older age at onset of disease (median = 43.5 years), with a reversed male/female ratio. There are no significant systemic extracutaneous or serologic manifestations. Whereas systemic RDD is commonly seen in blacks and only rarely reported in Orientals, the majority of the patients in this series with purely cutaneous RDD are Asians and whites.

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.

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.

Rosai Dorfman disease is an uncommon histiocytic disorder presenting as bilateral cervical lymphadenopathy in children and young adults. Under the revised classification of histiocytic disorders, it is classified in the` R’ group of histiocytosis. Cutaneous Rosai -Dorfman disease is regarded as a separate entity which falls under the`C’ group of histiocytosis according to this classification system. We herein report a case of cervical lymphadenopathy who initially developed swelling in the right side of the neck and later developed in the left side of the neck. Patient underwent mantoux test which showed induration of 22mm which was significant. No other symptoms like cough with expectoration, loss of appetite was present.chest x ray was normal. Tuberculous Lymphadenitis was suspected. FNAC was done but confirmatory diagnosis was not obtained, so Excision biopsy was done. Finally, microscopic examination revealed marked emperipolesis with sheets of mature lymphocytes and plasma cells which is pathognomic cytoarchitecture of Rosai Dorfman disease. No evidence of granuloma/ RS cells/ atypia seen. Immunohistochemistry showed S -100 – strong positivity.

Non-tuberculous mycobacterium infection after lung transplantation is associated with increased mortality

Successful treatment of large cutaneous facial Rosai-Dorfman disease using combination of subtotal resection and ALA-PDT: A case report.

Background:Sinus histiocytosis with massive lymphadenopathy, also known as Rosai–Dorfman disease, is a rare proliferation of non-Langerhans histiocytes. Cutaneous Rosai–Dorfman disease is a rare subtype of Rosai–Dorfman disease limited to the skin with variable clinical presentation.Case summary:A 59-year-old female with a history of osteoarthritis, hypothyroidism, and follicular B-cell lymphoma presented with pruritic, erythematous, dome-shaped papules that developed while on chemotherapy treatment. During cutaneous disease progression, the patient was further diagnosed with myelodysplastic syndrome. Histology review revealed patchy staining for S100 in the CD68+ histiocytes within the dermis with no enlarged histiocytes or emperipolesis. Given the absence of other findings, this was interpreted as cutaneous Rosai–Dorfman disease.Conclusion:There is still little known about the aetiology and pathogenesis of cutaneous Rosai–Dorfman disease. Non-specific immunohistochemistry in the midst of lymphoma, immunosuppressive treatments, and myelodysplastic syndrome produced a blurred diagnostic picture and delayed appropriate treatment, highlighting the diagnostic challenges of cutaneous Rosai–Dorfman disease.

A 33-year-old Caucasian man presented to our outpatient clinic with an asymptomatic papule localized on his face that slowly progressed for 6 months. He reported no fever, weight loss, or other general symptoms. On physical examination, he showed a rosy shine surfaced papule on his malar region (Figure 1A) with no other similar skin lesions present. The patient's medical history was unremarkable, and there was no evidence of lymphadenopathy. Dermoscopy revealed an erythematous salmon-colored background with branch vessels and absence of pigmentary network (Figure 1A). Laboratory routine showed no changes in the blood count and normal erythrocyte sedimentation rate (13 mm/h). The neutrophil to lymphocyte (NLR) was in the normal range of 2. An excisional biopsy was performed. The histopathological findings showed a dense infiltrate of inflammatory cells consisting of lymphocytes, neutrophils, eosinophils, and plasma cells (CD138-positive), associated with S-100 and CD-68 positive histiocytes. At immunochemistry, the CD1a marker was absent. Some of these histyiocytes were multinucleated, and lymphocytes were observed in their cytoplasm (emperipolesis) (Figure 2A). A diagnosis of cutaneous Rosai–Dorfman disease (CRDD) was made. The papule was surgically removed. Other similar skin lesions did not occur at the 1-year follow-up. Rosai-Dorfman disease (RDD) is a disease with a benign course characterized by an altered proliferation of histiocytes. Its clinical manifestations are heterogeneous and include lymphadenopathy and, in 43% of cases, involvement of other organs, such as the skin.1 CRDD only represents 3% of RDD cases. Clinically, CRDD tends to affect middle-aged Asian women.2 The lesions show no predilection for specific body areas and are generally found in clusters.2 Although there is no classic clinical presentation of CRDD, three main forms can be distinguished: papularnodular, plaque, and tumor.3 It can also present with vesicles and pustules.3 In the present case, the cutaneous lesion could fall into the category of the papulonodular type. In our patient, the existence of a single translucent papule characterized on dermoscopy by branching vessels was a misleading feature that could be misdiagnosed with a nodular basal cell carcinoma (BCC) or with small epidermal inclusion cysts. Nodular BCC typically presents on the face as a pink or flesh-colored papule.4 The lesion usually has a translucent quality, and a telangiectatic vessel is frequently seen within the papule.4 Epidermal cysts also can appear as asymptomatic, skin-colored nodules. The differential diagnosis of the patient's lesion further included cutaneous B-cell lymphoma, which also generally presents as a well-marginated plaque with branching vessel and a salmon-colored background at dermoscopy.5 Diagnosis was possible through histological examination, which revealed a typical feature of CRDD characterized by dermal histiocytes that stain positively for S100 protein and CD68, but negatively for Langerhans cells markers (CD1a and langerin).2 The inflammatory cells infiltrate also include lymphocytes, plasma cells, eosinophils, and neutrophils.2 Emperipolesis, which represents the presence of inflammatory cells within histiocytes, is a useful, but not specific, criterion for the diagnosis of CRDD.2 Laboratory examinations showed no altered values. Thoracic–abdominal–pelvic computed tomography scan revealed no internal pathology. These findings were consistent with the diagnosis of CRDD. Moreover, CRDD generally presents with multiple skin lesions.2 Our case reports an atypical presentation of CRDD characterized by the presence of a single lesion and branching vessels at dermoscopy which might open up the scenario of differential diagnoses of CRDD to other pathologies. Teresa Battista performed conceptualization, validation, visualization, writing—original draft preparation, and writing—review and editing. Gabriella Fabbrocini performed conceptualization, validation, visualization, writing—original draft preparation, and writing—review and editing. Lorenzo Martora performed data curation, formal analysis, investigation, visualization, and writing—original draft preparation. Fabrizio Martora involved in conceptualization, validation, visualization, writing—original draft preparation, and writing—review and editing. All authors read and approved the final version of the article. None to declare. None of the contributing authors has any conflict of interest, including specific financial interests or relationships and affiliation relevant to the subject matter or discussed materials in the article. Any photos in this manuscript are from patients who provided their consent. Patient gave the informed consent for publication of the case.

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.

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.

Clinical and histopathologic spectrum of cutaneous Rosai-Dorfman disease in Taiwan

IMPORTANCE Cutaneous Rosai-Dorfman disease (CRDD), a variant of Rosai-Dorfman disease limited to the skin, has a wide range of clinical presentations. Rosai-Dorfman disease is believed to result from an aberrant response to antigens, caused by immunosuppressive macrophages. Macrophage-mediated immunosuppression is also implicated in the pathogenesis of Crohn disease, linking these otherwise unrelated entities. To our knowledge, the coexistence of these disorders has been described in only 2 cases, 1 of them confined to the skin and soft tissue. OBSERVATIONS We present a series of 3 patients who developed purely CRDD in the context of long-standing Crohn disease. Statistical estimates suggested that the association of these 2 disorders is not due to chance (P<.001). CONCLUSIONS AND RELEVANCE Our case series provides the clinical correlate to the pathogenetic parallels between CRDD and Crohn disease. Crohn disease is frequently complicated by various skin manifestations, which may be mimicked by CRDD. Therefore, it may be prudent for clinicians to include CRDD in the list of differential diagnoses when examining skin lesions in patients with Crohn disease.

Nontuberculous Mycobacterial Infection: CT Scan Findings, Genotype, and Treatment Responsiveness

A Low Incidence of Nontuberculous Mycobacterial Infections in Pediatric Hematopoietic Stem Cell Transplantation Recipients