IgG4-related disease: Case report and 6-year follow-up of an elusive diagnosis mimicking malignancy.

Key Clinical Message: IgG4-related disease is a rare and emerging pathology, characterized by the appearance of pseudotumors. Due to the ability to mimic other pathologies, it is essential to consider it as a differential diagnosis in multisystemic processes. The diagnosis is challenging, requiring a multidisciplinary approach, to minimize the associated morbidity and mortality. Abstract: IgG4-related disease (IgG4-RD) is a rare, emerging, systemic and chronic pathology, characterized by the appearance of pseudotumors resulting from tissue infiltration by IgG4-positive plasma cells that promote eosinophilic inflammation of the tissue with subsequent fibrosis. We present the case of a male, 45-year-old patient, with marked weight loss and skin pallor detected by his family doctor during a child health consultation of his daughter. When questioned, the patient referred complaints of postprandial discomfort in the left hypochondrium with a feeling of fullness, weight loss, chronic fatigue and hyperhidrosis that had lasted for a month. On physical examination, he was pale, and had pain at palpation of the left hypochondrium. Laboratory data showed increased inflammation markers, abdominal ultrasound and CT demonstrated numerous enlarged lymph nodes in the upper quadrants, raising concern for a malignant lymphoproliferative process. Serological, imaging, clinical and laparoscopic excisional biopsy revealed features of IgG4-related disease and excluded malignant lymphoproliferative disease. The immediate response to treatment with oral prednisolone 30 mg/day also contributed for diagnosis confirmation. Due to refractory disease after gradual prednisolone reduction, second-line therapy with rituximab was initiated. Over the 6 years of follow-up, the patient presented multiple exacerbations characterized by the emergence of systemic symptoms, being maintained under close clinical and imaging follow-up by reumathology, infectious diseases, and family medicine specialists.

Autoimmune hepatitis and eosinophilia: A rare case report.

BACKGROUND: Autoimmune hepatitis consists of a chronic liver disease whose etiology is unknown. It is comprised of relevant immunological aspects and of immune-mediated liver injury. Eosinophilia may be a considerable feature, particularly happening in male patients. CASE SUMMARY: We report here a Crohn´s disease patient presenting with de novo hypergammaglobulinemia, circulating autoantibodies and elevated transaminase levels. He also had significant peripheral eosinophilia and elevated immunoglobulin E levels at diagnosis. The pathology findings from liver biopsy were compatible with autoimmune hepatitis with eosinophilic infiltration. CONCLUSION: This is the first report of autoimmune hepatitis with exuberant eosinophilic infiltration in the liver and bone marrow, described in a patient with Crohn's disease.

Juvenile polyps with osseous metaplasia treated by endoscopic mucosal resection.

A 17-year-old male with no previous medical history presented with a 1-year history of rectal bleeding, mucus discharge and occasional rectal prolapse. Colonoscopy revealed several polypoidal growth masses in the distal rectum, formed by multiple sessile polyps with a glistening mucus-covered surface and fleshy, friable appearance, that coalesced forming large conglomerates. Given their complexity and large size, piecemeal endoscopic mucosal resection of the rectal lesions was performed and histopathological examination revealed ulcerated polypoid mucosa with mixed inflammatory cell infiltrate in the lamina propria and dilated cystic mucus-filled glands. Remarkably, bony trabeculae surrounded by osteoblastic cells were also seen. These findings were consistent with juvenile polyps with foci of osseous metaplasia. Osseous metaplasia has been described in a wide variety of tissue types, such as prostate, uterus, breasts, lungs and urinary tract, with respect to both neoplastic and non-neoplastic conditions. However, it is exceedingly rare in colonic polyps and, to the best of our knowledge, only 9 cases have been described in juvenile polyps.

Primary small bowel follicular lymphoma: the role of balloon-assisted enteroscopy in diagnosis and follow-up.

An asymptomatic 38-year-old male with no significant previous medical history performed routine laboratory studies that revealed iron-deficiency anemia. Esophagogastroduodenoscopy and colonoscopy were unremarkable and he undergone videocapsule endoscopy that revealed multiple small polyps along jejunum and ileum. Double-balloon enteroscopy confirmed the presence of scattered small whitish nodules and small polyps carpeting segments of jejunal mucosal and sometimes forming conglomerates with a nodular appearance. Histopathological examination showed lamina propria expansion by neoplastic follicles, predominantly composed by small lymphoid cells that, by immunohistochemistry, showed expression of CD20, CD10 and bcl-2. Computed tomography scan of abdomen and pelvis did not reveal systemic involvement, consistent with primary small bowel follicular lymphoma. Chemotherapy was started and, at reevaluation enteroscopy, although nodular jejunal segments persisted, biopsies did not show involvement by lymphoproliferative disease, which was interpreted as complete remission. Periodic clinical and biochemical evaluation and annual enteroscopic surveillance was maintained and, after three years, local recurrence of low-grade follicular lymphoma was detected. As previously, there was no evidence of systemic involvement and the decision was to maintain close surveillance. After one year, the patient remains asymptomatic and without evidence of disease progression. This case illustrates the essential role of balloon-assisted enteroscopy for diagnosis and surveillance of primary small bowel follicular lymphoma.

Primary small bowel follicular lymphoma: the role of balloon-assisted enteroscopy in diagnosis and follow-up

An asymptomatic 38-year-old male with no significant previous medical history performed routine laboratory studies that revealed iron-deficiency anemia. Esophagogastroduodenoscopy and colonoscopy were unremarkable and he undergone videocapsule endoscopy that revealed multiple small polyps along jejunum and ileum. Double-balloon enteroscopy confirmed the presence of scattered small whitish nodules and small polyps carpeting segments of jejunal mucosal and sometimes forming conglomerates with a nodular appearance. Histopathological examination showed lamina propria expansion by neoplastic follicles, predominantly composed by small lymphoid cells that, by immunohistochemistry, showed expression of CD20, CD10 and bcl-2. Computed tomography scan of abdomen and pelvis did not reveal systemic involvement, consistent with primary small bowel follicular lymphoma. Chemotherapy was started and, at reevaluation enteroscopy, although nodular jejunal segments persisted, biopsies did not show involvement by lymphoproliferative disease, which was interpreted as complete remission. Periodic clinical and biochemical evaluation and annual enteroscopic surveillance was maintained and, after three years, local recurrence of low-grade follicular lymphoma was detected. As previously, there was no evidence of systemic involvement and the decision was to maintain close surveillance. After one year, the patient remains asymptomatic and without evidence of disease progression. This case illustrates the essential role of balloon-assisted enteroscopy for diagnosis and surveillance of primary small bowel follicular lymphoma (AU)

Kimura's Disease: A Literature Review Based on a Clinical Case.

Kimura's disease (KD) was first described in 1937. It is a rare, benign, and chronic immune-mediated inflammatory disorder affecting the subcutaneous tissue, salivary glands, and lymph nodes. The disease is more common in the second to third decades of life in middle-aged Southeast Asian countries. The cause of Kimura's disease remains unknown; some authors believe it is related to an autoimmune or delayed-type hypersensitivity reaction. It commonly presents as a solitary painless lymph node in the head and neck or generalized lymphadenopathy (67%-100%) associated with peripheral eosinophilia and elevated IgE levels. Renal involvement may occur in some patients. Diagnosis is made by histology. A 21-year-old Caucasian man with no relevant medical history presented with a non-tender swelling of the left hemiface without other associated symptoms. Laboratory investigations revealed a leukocyte count with eosinophilia (2.29×10^9/L- 26.5%) and elevated total IgE and IgG4. He had no renal dysfunction. He underwent surgical resection of the lesion in the jugal, infraorbital, and left nasolabial regions, and the anatomopathological examination revealed the characteristics of Kimura's disease. Three months after surgery, an MRI showed an increase in the size of the mass, and he was started on corticosteroids. Six months after surgery, he presented with a slight increase in the size of the mass and was started on Ciclosporin, which allowed a progressive reduction in the dose of corticosteroid with evidence of a progressive reduction in swelling. Ciclosporin was stopped due to toxic serum levels, and he was started on mycophenolate mofetil. The dose was increased because of the increase in facial mass; on mycophenolate mofetil 2500mg/day, the patient remains stable. KD is a chronic disorder of unknown etiology that mainly affects young people in Southeast Asia and is rare in Western countries, as in the case of this young man. Studies have shown no significant differences in region or race, complications, multiplicity, laterality, anatomical distribution, maximum size, eosinophil count, or IgE levels between age groups. There is no consensus on the optimal treatment for KD; several treatments have been used, including surgery, systemic corticosteroids, immunosuppressants, and radiation. Due to the tendency to relapse and the rarity of the disease, there is no consensus on treatment options for relapse.

Primary Localized Small Bowel Amyloidosis: A Rare Cause of Diarrhea Detected by Balloon-Assisted Enteroscopy.

Gastrointestinal involvement occurs in approximately 4% of cases of systemic amyloidosis and may be associated with heterogeneous and nonspecific clinical manifestations and endoscopic findings, which poses important diagnostic challenges. A 76-year-old female with previous medical history of breast cancer, hypertension, dyslipidemia, asthma, and depression presented to emergency department with a 1-month history of diarrhea, abdominal pain, anorexia, asthenia, and weight loss. Physical examination revealed dehydration and abdominal tenderness. Stool microbiologic studies, Clostridium difficile toxin, fecal leukocyte count, stool fat, and celiac serology were all negative. Remarkably, an axillary lymphadenopathy was also noted and its investigation revealed multiple myeloma, which raised suspicion for gastrointestinal amyloidosis. However, upper digestive endoscopy and colonoscopy did not reveal abnormalities and both gastric and colon biopsies were negative for amyloid, as was abdominal fat biopsy. As the patient also presented hypoproteinemia and hypoalbuminemia suggestive of protein-losing enteropathy, videocapsule endoscopy was performed where petechiae, villous atrophy, and fissures were seen along jejunal mucosa. These findings were confirmed with double-balloon enteroscopy and jejunal biopsies revealed extensive deposition of an amorphous hyaline material in lamina propria and muscularis mucosae that exhibited apple-green birefringence under polarized light after Congo red staining, consistent with localized small bowel amyloidosis secondary to multiple myeloma. Chemotherapy was started, but she would die after 3 weeks. This case illustrates the role of balloon-assisted enteroscopy in diagnosis of localized small bowel amyloidosis with jejunal involvement.

Primary Myelofibrosis in the Prefibrotic Stage Presenting as Portal, Splenic, and Superior Mesenteric Vein Thrombosis: A Case Report and Review of the Literature.

Introduction: Myeloproliferative neoplasms are the most common cause of splanchnic vein thrombosis in the absence of cirrhosis or nearby malignancy. Case Presentation: A 31-year-old male presented to the emergency department with epigastric pain associated with mild thrombocytosis and elevated levels of aminotransferases, lactate dehydrogenase, and C-reactive protein. Contrast-enhanced abdominal computed tomography revealed splanchnic venous thrombosis that involved the portal, splenic, and superior mesenteric veins, without signs of chronic liver disease. Anticoagulation with warfarin was immediately started. Diagnostic work-up was remarkable for the presence of the JAK2 V617T mutation and hypercellular bone marrow, with increased myeloid cells and atypical megakaryocytes, consistent with primary myelofibrosis in a prefibrotic stage. No other hypercoagulable conditions were identified. Discussion: We present a rare case of primary myelofibrosis in the prefibrotic stage presenting as portal-splenic-superior mesenteric vein thrombosis. This demonstrates that extensive splanchnic vein thrombosis may be the onset manifestation of myeloproliferative neoplasms, even in early stages and in the absence of concomitant hypercoagulable conditions. The presence of the JAK2 mutation is an important prothrombotic risk factor that can, per se, contribute to large venous thrombosis.

Introdução: As neoplasias mieloproliferativas constituem a causa mais comum de trombose venosa esplâncnica na ausência de cirrose hepatica ou neoplasia regional. Descrição do caso: Um homem de 31 anos apresentou-se no Serviço de Urgência com dor epigástrica associada a trombocitose ligeira e elevação das transamínases, desidrogenase láctica e proteína C-reactiva. Em tomografia computorizada abdominal com contraste, foi identificada trombose venosa esplâncnica envolvendo a veia porta, esplénica e mesentérica superior, sem sinais de doença hepática crónica. Foi de imediato iniciada anticoagulação com varfarina. Da investigação etiológica, destaca-se a presença da mutação JAK2 V617F e medula óssea hiper-celular com aumento das contagens de células mielóides e megacariócitos atípicos, consistente com mielofibrose primária em estadio pré-fibrótico. Não se identificaram distúrbios pro-trombóticos concomitantes. Discussão: Apresenta-se um raro caso de trombose da veia porta, esplénica e mesentérica superior, demonstrando que as neoplasias mieloproliferativas podem apresentar-se sob a forma de trombose venosa esplâncnica extensa, mesmo em estadios precoces e na ausência de distúrbios protrombóticos concomitantes. A presença da mutação JAK2 é um importante factor de risco pro-trombótico que pode por si só contribuir para a formação de tromboses venosas extensas.

A rare case of monomorphic epitheliotropic intestinal T-cell lymphoma mimicking Crohn's disease.

A 70-years-old male was referred to us due to bloody diarrhea and involuntary weight loss during the last 2 months. Laboratory workup revealed anemia, hypoalbuminemia, and elevated reactive-C-protein. Computed tomography documented a wall thickening of sigmoid colon. Colonoscopy revealed pleomorphic ulceration of the sigmoid and descending colon. Aphthous ulcers were seen in ilium. Histology revealed mucosal infiltration with small sized atypical lymphoid cells in the epithelium and lamina propria, with extensive epitheliotropism.

A case of duodenal-type follicular lymphoma.

An 83-year-old female with history of silicosis was referred for upper endoscopy due to duodenal wall thickness detected in thoracic computer tomography (CT). Upper endoscopy revealed multiple small (1 to 5 mm), whitish polypoid lesions, involving a discrete portion of the descending part of the duodenum with 3 cm extension.

Peripheral T-Cell Lymphoma, Not Otherwise Specified - a case report and short literature review.

Peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS) is the most common subgroup of peripheral T-cell lymphomas (PTCL), and constitutes a diagnosis of exclusion. At presentation, most patients exhibit B symptoms and generalized lymphadenopathy, with or without concomitant extra-nodal involvement. We present a case of a man admitted to the hospital with B symptoms, generalized lymphadenopathy and a pruritic exanthema. Laboratory workup reveled persistent eosinophilia and malignant hypercalcemia. The excisional lymph node biopsy diagnosed PTCL-NOS, and the skin biopsy demonstrated a lichenoid dermatitis, compatible with the presumptive clinical diagnosis of a drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome. The patient was treated with topical betamethasone with good overall response, and initiated the first cycle of chemotherapy before discharge. This case report describes a PTCL-NOS with a concomitant non-lymphoproliferative disease, the challenging diagnostic workup of the two diseases and reinforces the most important features of the lymphoproliferative neoplasm.

Effect of Blue Light on Acne Vulgaris: A Systematic Review.

Acne is a dermatosis that affects almost 90% of the adolescent population worldwide and its treatment is performed with retinoids, antimicrobials, acids, and topical or systemic antibiotics. Side effects such as skin irritation in addition to microbial resistance to antibiotics are the main side effects found. Phototherapy with blue light is being used as an alternative treatment. Our objective was to analyze the use of blue light to treat inflammatory acne. We conducted a systematic literature review, following the recommendation PRISMA (Preferred Reporting Items for Systematic Reviews and MetaAnalyses), including in the sample randomized clinical trial studies that compared blue light with another intervention as control. The research was carried out in the PUBMED and WEB of SCIENCE databases and the methodological quality of the studies evaluated were made by the Cochrane Collaboration Bias Risk Scale. After the exclusion of duplicates, the titles and abstracts of 81 articles were evaluated, and 50 articles were selected for full reading, including in the review at the end 8 articles. Studies have shown significant improvements in the overall picture of acne. It is concluded that despite the great potential in its use in the treatment of acne, there is a need for more detailed trials on the effect of blue light on the treatment of inflammatory acne.

Penile Lymphoepithelioma-Like Carcinoma: A Rare Case With PD-L1 Expression.

Most malignant tumors of the penis are squamous cell carcinomas (SCC), being divided in 2 groups, one human papillomavirus (HPV)-related and another non-HPV-related, with lymphoepithelioma-like carcinoma (LELC) being one of the rarest HPV-related SCC. In this article, we report a case of a 50-year-old man who presented testicular swelling and pain for the past 3 months. A penile mass was identified, and the patient was submitted to a total penectomy. The penectomy specimen showed an ulcerated lesion at the glans reaching the cavernous bodies. Microscopic examination showed undifferentiated epithelial cells with syncytial growth pattern mix with a dense lymphoplasmacytic infiltrate, consistent with LELC. The tumor cells expressed p16 and all 3 different clones of PDL1 (22C3, SP263, and SP142). The patient is alive and well with a follow-up of 3 months. To our knowledge, this is the third LELC of the penis reported in literature and the first case reported with PDL1 expression.