Cellular Cutaneous Epithelioid Hemangioma Harboring the Rare GATA6::FOXO1 Gene Fusion.

ABSTRACT: Epithelioid hemangioma (EH) is a benign vascular tumor displaying diverse histomorphologies. Among these, one EH subtype comprises cellular sheets of atypical epithelioid cells, posing potential challenges in distinguishing it from malignant vascular lesions. In this case report, we present a cutaneous cellular EH that carries the rare GATA6::FOXO1 gene fusion, a recent discovery. Our aim is to provide an updated insight into the evolving knowledge of EHs while delving into the histologic and molecular characteristics of the primary differential diagnoses.

Diagnostic dilemma in maxillofacial pathologies: a case series.

BACKGROUND: Head and neck are a site of numerous pathologies with different aetiologies and presentations. Rare pathologies, although infrequent still do exist. Diagnostic dilemma in maxillofacial pathologies can be the most challenging situation. Dealing with uncertainty, although difficult, is a reality in surgical practice. Being thorough, attentive to details and clues, and maintaining an open mind are critical strategies in the approach to such a patient. CASE PRESENTATION: In our paper we are reporting a spectrum of 4 unusual variants of head and neck pathologies, whose age and sex were 52 years/ M, 37 years/F, 41 years/ F, 30 years/F respectively. All the patients were of Indian origin. The diagnosis ranged from autoimmune diseases to lymphatic cancer which posed a unique challenge both in the terms of diagnosis and management. CONCLUSION: A thorough systematic evaluation along with a multidisciplinary approach is mandatory in the diagnosis of unusual head and neck pathologies.

Diagnostically Challenging Multifocal Penile Epithelioid Hemangioma Successfully Treated With Doxorubicin Hydrochloride.

ABSTRACT: Epithelioid hemangioma (EH), also known as angiolymphoid hyperplasia with eosinophilia, is an unusual vascular proliferation that tends to manifest in the head and neck region. Its occurrence on the penis is rare, with only scarce reported cases in the literature. The histopathological examination of this condition poses a challenge because it shares similarities with other entities, such as epithelioid hemangioendothelioma, epithelioid angiosarcoma, cutaneous epithelioid angiomatous nodule, or Kaposi sarcoma (KS). The infrequency of EH in penile locations underscores the need for accurate diagnostic differentiation and tailored treatment strategies for this atypical presentation. This case report highlights a rare instance of multifocal penile EH. The patient's lesions exhibited distinctive histopathologic features, with extensive eosinophilic infiltration, presence of necrosis, and infiltration to subcutaneous fat. The patient was treated with doxorubicin, a chemotherapy drug, with a very good response. This successful therapeutic outcome underscores the potential efficacy of doxorubicin in the management of multifocal penile EH. The comprehensive analysis of this case contributes to our understanding of the clinical presentation, histopathologic features, and treatment modalities for this rare penile tumor, providing valuable insights for future clinical considerations.

Kimura's disease: a case report.

BACKGROUND: Kimura's disease is a rare chronic inflammatory disorder of unknown etiology that is seen in people of Asian descent. It is characterized by head and neck subcutaneous nodules along with lymphadenopathy, which is usually solitary but can be generalized. It is diagnosed histopathologically by the proliferation of blood vessels and germinal centers in lymphoid follicles, along with variable degrees of fibrosis and extensive eosinophil infiltration. Its localized form is treated with surgical excision, while generalized lesions and those that do not respond to surgical excision can be managed with steroids or radiotherapy. CASE: In this report, we present the first case of Kimura's disease in the Ethiopian literature in a 40-year-old Ethiopian man that presented with generalized pruritic subcutaneous nodules and lymphadenopathy, which were effectively managed with a tapering course of prednisolone, and a relapse that showed good sustained response with slow steroid taper. CONCLUSION: We have demonstrated that, even though it is very rare in the African continent, Kimura's disease is to be considered as a differential diagnosis for patients that present with subcutaneous nodules and lymphadenopathy. We also have demonstrated that relapses can be effectively managed with reinitiation of the same dose of steroids but with a very slow taper.

Successful Management of Refractory Kimura Disease with CVP Chemotherapy: A Case Report.

BACKGROUND Kimura disease is a rare, chronic inflammatory disorder typically presenting as a painless mass in the head or neck and associated with elevated serum immunoglobulin E and blood and tissue eosinophilia. Generally benign, its management is not well-defined, but corticosteroids are a common initial treatment. We detail a case of refractory Kimura disease successfully managed with CVP (Cyclophosphamide, Vincristine, Prednisone) chemotherapy and no recurrence during 6 rounds of treatment. CASE REPORT A 64-year-old woman, previously diagnosed with Kimura disease, returned to the hospital with upper eyelid ptosis. Upon examination, a solid mass was palpable in her left upper eyelid. Peripheral blood tests confirmed elevated IgE levels at 356.0 IU/ml. An excisional biopsy showed infiltration of lymphocytes and eosinophils, consistent with Kimura disease. Despite undergoing corticosteroid treatment, surgical debulking, radiation, and immunosuppressant therapy, her condition worsened. Concerns were raised due to imaging features suggestive of lymphoma, although no malignancy was evident in subsequent biopsies. It was decided to manage the disease using CVP chemotherapy, leading to significant symptom improvement. There have been no recurrences during the 12-month follow-up period. CONCLUSIONS Kimura disease is typically benign and responsive to treatment, but it often recurs and can progress. When symptoms are not controlled with conventional treatments, including corticosteroids, immunosuppressants, radiation, and surgical debulking, chemotherapy may be a reasonable option even when no definite signs of malignancy is identified. Further research is needed to explore the utility of CHOP and CVP in managing uncontrolled Kimura disease.

Kimura's disease as a mimicker of cavernous hemangioma: A case report and literature review.

Kimura's disease (KD) is an immune-mediated disorder which mainly affects Asian men. It appears as head and neck subcutaneous masses, with inflammatory infiltrate and elevated serum immunoglobulin E levels. The clinical presentation of KD resembles that of various diseases. Here, we report the case of a 30-year-old Filipino man with KD mimicking cavernous hemangioma who was treated by surgery. Careful survey for possible KD cases is crucial. Misdiagnoses are prone to futile interventions and unwanted effects. Surgery with adjuvant therapy is superior to other forms of KD treatment.

An 8-year follow-up of IgG4-related skin disease presented with generalized ALHE-like eruptions: successful treatment of glucocorticoid and cyclophosphamide.

Immunoglobulin gamma (IgG) type 4-related disease (IgG4-RD) is a chronic immunologic systemic disorder that could affect multiple organs, which may cause irreversible organ damage or even death. Skin involvement is rare and associated especially with systemic disease. The dermatologist must be equipped to recognize IgG4-RD to prevent delayed identification and treatment. This case reports a very rare case of IgG4-related skin disease (IgG4-RSD) presenting with a generalized angiolymphoid hyperplasia with eosinophilia (ALHE)-like lesions in a middle-aged male patient with no other organ involvement. He was treated with oral glucocorticoid and cyclophosphamide, which resulted in complete remission. No relapse and disease progression were seen with a follow-up for 8 years.

Diagnostic challenges and updated therapeutic strategies of Kimura's disease: A case report successfully treated by dupilumab and review.

RATIONALE: Kimura's disease (KD) is a rare and chronic eosinophilic related-disease, characterized by subcutaneous tissue masses, regional enlarged lymph nodes, hypereosinophilia and elevated serum IgE. KD usually affects young adults in the Asian population. In Western countries, the clinical and biological presentation of KD is often unknown, delaying the diagnosis. Therapeutic management is not standardized and despite recent advances, remission from KD can be difficult to achieve, especially in relapse situations. PATIENT CONCERNS: We report the case of an non-Asian man with KD, initially misdiagnosed as lymphoma. We focus on his long-lasting clinical course with 20 years of recurrence despite several therapeutic lines. DIAGNOSES AND INTERVENTIONS: We have emphasized the key points of the KD diagnostic challenge. We chose to focus on hemopathies as diagnostic traps to illustrate several overlapping features that blur frontiers with KD. With regard to treatments, lessons can be learned from the use of the therapeutic backbone, which relies on excision surgery, radiotherapy and corticosteroids. OUTCOMES: Advancements in KD pathogenesis have highlighted the pivotal role of Th2 lymphocytes driving eosinophil activation. Directly inspired by eosinophilic and allergic field practices, targeted therapies, such as dupilumab, provide hope for potential curative options. LESSONS: Finally, we propose a therapeutic plan to treat newly diagnosed KD and discuss options for relapsing entities.

Clinical effects of dupilumab: A novel treatment for Kimura disease.

BACKGROUND: Kimura disease (KD) is a rare chronic inflammatory disorder involving the Th2 pathway. Although medical treatment with steroids or other immunosuppressants is available, they may cause developmental issues in the pediatric population. Surgical intervention has also been suggested; however, it is associated with high recurrence rates. CASE PRESENTATION: A 14-year-old boy presented with left retroauricular lymph node enlargement at the age of 5 years. At the age of 7 years, he was diagnosed with nephrotic syndrome which subsided after steroid treatment for approximately 6 years. The retroauricular lymph node was surgically excised, and KD was confirmed. However, recurrent enlargement of the left retroauricular and neck lymph nodes occurred after 2 years. Persistently high IgE levels and fluctuating eosinophil counts were observed following steroid treatment. Dupilumab was prescribed because of the difficulty in tapering the steroid dosage. A loading dose of 600 mg was administered, followed by a maintenance dose of 300 mg every 2 weeks. The IgE level decreased after 3 months, and a low eosinophil count was maintained after steroid discontinuation. Follow-up computed tomography revealed a decrease in the size of the lymph nodes with no side effects such as conjunctivitis. CONCLUSION: Traditional treatments have raised developmental concerns in the pediatric population and are associated with high recurrence rates. Dupilumab targets the Th2 pathway and provides effective results, with few adverse effects. Dupilumab may be a therapeutic option for KD and other diseases involving the Th2 pathway.

[Multiple, eruptive epithelioid hemangiomas of the scalp]. / Multiple, eruptive epitheloide Hämangiome der Kopfhaut.

Epithelioid hemangioma is a benign vascular neoplasm with a characteristic histological and immunohistochemical pattern, characterized by a lymphocytic inflammatory infiltrate with admixed eosinophils and FOS­B expression. The correct diagnosis is of particular relevance, since malignant vascular tumors with differentiated epithelioid cells can also be considered in the differential diagnosis. We present a patient with multiple epithelioid hemangiomas of the scalp accompanied by severe pain and itching. The long history of multiple therapeutic attempts illustrates the limited success of currently available treatment options.

A common presentation of an uncommon pathology: Kimura disease.

Kimura's disease is a chronic, benign inflammatory condition of the subcutaneous tissue. It presents as painless, subcutaneous nodules of the head and neck, which are firm, painless, and may be single or multiple. It is most commonly seen in young adult Asian men. The nodes remain stable or may slowly enlarge over time. Elevated serum immunoglobulin E (IgE) levels, peripheral blood eosinophilia and lymphoid proliferation with eosinophilic infiltration on histopathological examination are the characteristic features. Spontaneous regression is usually seen. The diagnosis of Kimura's disease can be difficult and misleading, and it is important not to ignore histopathological features.

Kimura's Disease Diagnosed in the Department of Orthopedic Surgery Treated With Wide Excision: Report of Two Cases.

BACKGROUND/AIM: Kimura's disease is a rare chronic inflammatory disorder that commonly affects the head and neck regions, occurring predominantly in Asian men. Elevated eosinophil count and IgE levels in the peripheral blood examination are suggestive of this disease. In this study we report two cases of Kimura's disease, treated with wide excision. CASE REPORT: The first case was a 58-year-old man presented with asymptomatic left neck mass. The second case was a 69-year-old man with swelling of the right upper arm, which was suggestive of soft tissue mass. Needle biopsy results were suggestive of Kimura's disease in both cases. Elevated WBCs at 8,380/µl (neutrophils: 45%, eosinophils: 33%) for the first case and 5,370/µl (neutrophils: 61.8%, eosinophils: 3.5%) for the second one, and serum IgE at 14.988 IU/ml for the first case and 1,315 IU/ml for the second one were observ. For definitive treatment and diagnosis, wide excisions were performed. Final histopathological results revealed Kimura's disease. Surgical margins were negative even though an ill-demarcated lesion for the first case and high infiltration to the muscle for second case were confirmed. CONCLUSION: Wide excision was performed in both cases of Kimura's disease and no recurrence was observed until the final follow-up. Wide excision with negative surgical margin should be recommended for the treatment of Kimura's disease.

Coexisting Nodular Sclerosis Hodgkin Lymphoma and Kimura's Disease: A Case Report and Literature Review.

Kimura's disease (KD) is a rare lymphoproliferative fibroinflammatory disorder that commonly affects the subcutaneous tissue and lymph nodes of the head and neck. The condition is a reactive process involving T helper type 2 cytokines. Concurrent malignancies have not been described. Differential diagnosis with lymphoma can be challenging without tissue biopsy. Here, we present the first reported case of coexisting KD and eosinophilic nodular sclerosis Hodgkin lymphoma of the right cervical lymphatics in a 72-year-old Taiwanese man.

Angiolymphoid hyperplasia with eosinophilia: a case series and literature review.

PURPOSE: Angiolymphoid hyperplasia with eosinophilia is an uncommon chronic inflammatory condition of unknown etiology. Orbital and adnexal involvement findings are variable and often nonspecific. METHODS AND RESULT: We report six patients with angiolymphoid hyperplasia of the orbit, their clinical and histopathological characteristics, and a review of previously published literature with this diagnosis between 1980 and 2021. CONCLUSION: ALHE has definite histopathologic features but inconclusive radiological studies. The ophthalmologic findings of this entity overlap significantly with other similar variants and may be thought as equivalent lesions.

Combination of available topical beta-blockers and antibiotic ointment for epidermal growth factor receptor tyrosine kinase inhibitor-induced paronychia and pseudopyogenic granulomas in Taiwan.

BACKGROUND: Painful paronychia and pseudopyogenic granuloma (PG) are common adverse drug reactions (ADRs) associated with the use of epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs) to treat non-small cell lung cancer (NSCLC). Multiple local management approaches have been tested with unsatisfactory results. We have introduced an occlusion therapy technique through which available topical drugs for longer than 2 years. METHODS: Based on the cancer registry and case management system of our hospital, from July 2019 to July 2020, we retrospectively enrolled patients with NSCLC who were treated with EGFR-TKIs and received applications of 0.5% timolol ophthalmic solution (TIMOPTOL XE 0.5%®) combined with a neomycin/tyrothricin ointment (Biomycin®) using the occlusion method to treat paronychia or PG. RESULTS: A total of 22 patients were enrolled, with a mean age of 66.5 years, most of whom were women (72.7%). Periungual lesion-related pain was reported by all patients, and periungual bleeding and PG were reported in 14% (3/22) and 64% (14/22) of patients, respectively. After the occlusion therapy application of timolol ophthalmic solution combined with neomycin/tyrothricin ointment twice daily, the overall response rate was 83.3%, including complete response in 18% (4/22) of cases and partial response in 68% (15/22) of cases. CONCLUSION: We presented an occlusion method using available topical beta-blockers and antibiotic ointment for EGFR-TKI-induced paronychia and PG in Taiwan. The result is favorable. Further randomized control trial is urgent to validate our findings.

Angiolymphoid Hyperplasia of the External Auditory Canal; Reconstruction of a Complex Defect.

Angiolymphoid hyperplasia (AH) was first described by Wells and Whimster in 1969 as a benign vasoproliferative pathology with a varied infiltrate of eosinophils, lymphocytes, and plasmatic cells. Clinical presentation has been described in the literature as small red-bluish nodules, less than 3 cm in diameter that can bleed in 25% of the cases and be pruritic and painful in 37% and 20% of the cases, respectively. Particularly, AH can appear in the ear; nevertheless, other regions have been affected, including the scalp, lips, tongue, orbit, muscle, and bone. Most of these cases have occurred in adults with an unknown etiology; however, an inflammatory process has been associated in approximately 20% with eosinophilia. No malignancy has been reported.