Mucor irregularis Infection and Lethal Midline Granuloma: A Case Report and Review of Published Literature

Mucor irregularis (Rhizomucor variabilis) infection and lethal midline granuloma (LMG) are characterized by progressive swelling, ulceration, and destruction of the central face that is usually fatal. Pathological features are inflammation, necrosis, and granulation. LMG has been called by various names, and in recent years, it has been known as NK/T cell lymphoma. However, diagnosis still relies on the progressive necrosis course rather than malignancy in histology. The disease has long challenged physicians, particularly when it worsens with radiotherapy or chemotherapy but sometimes achieves total remission without anti-malignancy therapies. We describe a 35-year-old man who had typical clinical–pathological symptoms of LMG, which turned out to be primary M. irregularis infection; that was diagnosed by positive tissue culture and fungal elements in histology. The patient was successfully treated with antifungal therapy (liposomal amphotericin B, total 4,600?mg and amphotericin B total 277?mg, over a duration of 70?days). We hereby review current knowledge about the epidemiology, clinical manifestations, radiographic characteristics, and pathologic features of LMG with those of M. irregularis infection and their associations. We conclude that primary M. irregulars infection can mimic the clinico–pathological symptoms of LMG and the condition responds favorably to aggressive antifungal therapy.     

Papillary Carcinoma of the Thyroid with Fibromatosislike Stroma: Case Report and Review of Literature

ObjectiveTo describe a case of papillary carcinoma of the thyroid with fibromatosislike stroma, emphasize the need for a diligent search for papillary thyroid cancer in the presence of a fibroproliferative lesion, highlight the peculiar hormonal response of the stromal component, and review the pertinent literature.MethodsWe present the clinical, laboratory, radiologic, and pathologic findings in a patient with papillary carcinoma of the thyroid with fibromatosislike stroma and review the related published material.ResultsA 29-year-old woman presented to our surgical department because of a large mediastinal mass. She underwent surgical removal of the mass by means of a median sternotomy and neck extension. Pathology examination revealed macroscopically tan scarlike tissue, which by histologic study consisted of a dominant fibroproliferative lesion overshadowing a minor component of papillary carcinoma of the thyroid. Further neck exploration with total thyroidectomy revealed multifocal papillary carcinoma of the thyroid. Postoperatively, the patient received radioiodine treatment. A local and aggressive recurrent tumor was observed during a subsequent pregnancy; the lesion was not amenable to complete resection but fascinatingly responded to antiestrogen therapy (orally administered tamoxifen).ConclusionThe presence of a fibroproliferative lesion could be misleading. A diligent search should be made for a papillary thyroid carcinoma component within fibromatosislike stroma. The mode of manifestation of the tumor and its response to hormonal manipulation are distinctive features of this case. (Endocr Pract. 2010;16:650-655)     

Medullary Thyroid Carcinoma Manifesting as an Ovarian Mass: Case Report and Review of Literature

ObjectiveTo report the uncommon case of a woman with abdominal pain and a complex adnexal mass, who was subsequently found to have medullary thyroid carcinoma (MTC) metastatic to the ovary.MethodsWe present the clinical history, physical findings, laboratory and imaging studies, and pathologic findings in a woman with metastatic MTC and locally aggressive disease. The genetic associations, variable clinical course, and histopathologic findings in MTC are reviewed.ResultsA 38-year-old woman with abdominal and pelvic pain underwent a computed tomographic scan of the abdomen, which showed a complex left adnexal mass. After laparoscopic left oophorectomy, histopathologic analysis of the resected ovary suggested the presence of a metastatic neuroendocrine tumor. The patient recovered but was referred to the surgery clinic 3 months later because of hoarseness, a left neck mass, and left-sided vocal cord paralysis. Further work-up was suggestive of MTC, which prompted RET testing for multiple endocrine neoplasia. The patient underwent left thyroid lobectomy and selective lymph node dissection but later required tracheostomy because of tumoral invasion of the trachea, laser debulking of the tumor, and external beam radiation therapy. One year postoperatively, development of a metastatic lesion in her right ovary necessitated a second oophorectomy.ConclusionMTC usually manifests as a solitary thyroid nodule but should be considered in patients with metastatic lesions characterized by neuroendocrine features. This unusual case highlights the biologic and clinical variability of this often aggressive thyroid cancer, which necessitates an attentive work-up, a rigorous operative strategy, and a periodic postoperative surveillance program. (Endocr Pract. 2008;14:351-357)     

系统性种痘水疱病样皮肤T细胞淋巴瘤1例及文献复习

目的:通过分析系统性种痘水疱病样淋巴瘤病例1例,结合文献回顾,分析其临床特点、诊断治疗进展及预后,以提高临床医生对该病的认识。方法:报道1例有7年种痘水疱病史并转化为系统性T细胞淋巴瘤病例,通过皮肤活检、病理及免疫组化、TCR基因重排、实验室、MRI及影像学检查,确定诊断及治疗方案,并观察预后。后进行文献回顾。结果:本例患者的主要临床表现为多年的面部红斑、丘疱疹及水疱改变,最初诊断为"种痘水疱病",初期治疗有效,病情反复并进展,皮肤改变加重,病变逐渐累及鼻中隔及下鼻甲,出现坏死及缺损,同时伴有发热及淋巴结肿大等系统症状。皮肤病理及免疫组化提示真皮弥漫性淋巴细胞、浆细胞浸润,CD3+,CD4+,CD8散在细胞+,CD30局部细胞+,CD56局部细胞+,EBER杂交(+),Ki-67增殖指数为60%。TCR基因克隆性重排。经干扰素及激素治疗初期病情控制尚可,持续约7年时间,后病情进行性加重,表现系统性种痘水疱病样皮肤T细胞淋巴瘤症状,给予MESA方案化疗1次。化疗后病情稳定,鼻部症状明显改善。后病情进展,患者出现神经系统症状并死亡。结论:种痘水疱病样淋巴瘤早期临床表现易与种痘样水疱病相混淆,但根据其病变部位病理活检及免疫组化分析可得到确诊,早期单纯皮肤病变期可持续数年,部分对激素及干扰素治疗有效。当发展为系统性种痘水疱病样淋巴瘤期时,病情进展迅速,常可累及中枢神经系统,对于化疗反应差,预后不佳,死亡率极高。化疗对于该病的有效性有待进一步观察。     

Thyroid Tuberculosis With Abnormal Thyroid Function-Case Report And Review Of The Literature

ObjectiveTo report an extremely rare case of thyroid tuberculosis (TT) with abnormal thyroid function and to review the related literature.MethodsWe present the patient's history, clinical findings, laboratory test results, imaging examinations, cytological data, management, and follow-up. In addition, we perform a review of the previously published cases of TT and give special attention to those with hypothyroidism.ResultsA 45-year-old Indian man presented to the outpatient clinic with neck swelling and respiratory and constitutional symptoms. Cervical ultrasound revealed a thyroid nodule and a necrotic right cervical adenopathy. Fine-needle aspiration cytology (FNAC) was performed and purulent material was removed from thyroid and lymph node. In both specimens, the culture was positive for Mycobacterium tuberculosis complex, and a cytological examination revealed epithelioid cell granulomas and necrosis. Mycobacterium tuberculosis complex was also identified by sputum culture. Antibiotic testing revealed sensitivity to all first-line drugs. A diagnosis of disseminated tuberculosis with thyroid and cervical lymph node involvement was made. Thyroid function was consistent with subclinical hyperthyroidism that subsequently evolved to hypothyroidism, requiring thyroid hormone replacement, and reflected tuberculous thyroiditis. Anti-tuberculosis drugs were started with good therapeutic response.ConclusionTT is a rare condition and its association with thyroid function abnormalities is even rarer. To our knowledge this is the third report of hypothyroidism related to TT and the first to identify a period of hyperthyroidism preceding hypothyroidism. Despite its rarity, TT should be considered in the differential diagnosis of neck mass. FNAC is a useful procedure and thyroid function should be monitored.     

Testicular Sclerosing Sertoli Cell Tumor: A Case Report and Review of the Literature

Sertoli cell tumors are very rare testicular tumors, representing 0.4% to 1.5% of all testicular malignancies. They are subclassified as classic, large-cell calcifying, and sclerosing Sertoli cell tumors (SSCT) based on distinct clinical features. Only 42 cases of SSCTs have been reported in the literature. We present a case of a 23-year-old man diagnosed with SSCT.Key words: Testicular neoplasm, Sertoli cell tumor, Sclerosing Sertoli cell tumorA 23-year-old man was referred to the Cleveland Clinic Department of Urology (Cleveland, OH) for an incidentally detected right testicular mass. The mass was identified during a work-up for transient left testicular discomfort. His only notable medical history was nephrolithiasis. There was no personal or family history of testicular cancer or cryptorchidism. On physical examination, he was a well-nourished, well-masculinized young man without gynecomastia. Testicular examination revealed normal volume and consistency bilaterally without other relevant findings. Testicular ultrasonography demonstrated an 8 mm × 6 mm × 6 mm hypoechoic, solid mass in the posterior right testicle with peripheral flow on color Doppler (Figure 1).Open in a separate windowFigure 1Testicular ultrasound demonstrating an 8 mm × 6 mm × 6 mm hypoechoic, solid mass in the posterior right testicle (blue arrows).The remainder of the ultrasound examination yielded normal results. Lactic dehydrogenase, B-human chorionic gonadotropin, and α-fetoprotein levels were all within the normal range. After a thorough review of the options, the patient was then taken to the operating room for inguinal exploration. Intraoperative ultrasound confirmed a superficial 8-mm hypoechoic testis lesion. A whiteyellow, well-demarcated nodule was widely excised and a frozen section was sent to pathology for examination. The frozen section examination revealed the lesion to be a neoplasm with differential diagnosis including sclerosing Sertoli cell tumor (SSCT), adenomatoid tumor, and a variant of Leydig cell tumor. Because the final diagnosis could not be determined from frozen section, the decision was made to perform a right radical orchiectomy. Pathologic examination revealed a grossly unifocal, well-circumscribed, white, firm mass of 0.8 cm. Microscopically the lesion was composed of solid and hollow tubules and occasional anastomosing cords distributed within the hypocellular, densely collagenous stroma. Although the lesion was somewhat well circumscribed, entrapped seminiferous tubules with Sertoli-only cells were present within the tumor (Figure 2). Tumor cells had pale or eosinophilic cytoplasm with small and dark nuclei with inconspicuous nucleoli. The tumor was confined to the testis and margins were negative. A diagnosis of SSCT was reached, supported by positive immunostain results for steroidogenic factor 1, focal inhibin, and calretinin expression, and negative stain results for cytokeratin AE1/AE3 and epithelial membrane antigen in the tumor (Figure 3). The postoperative course was unremarkable. Computed tomography scan of the abdomen and pelvis and chest radiograph were negative for metastatic disease.Open in a separate windowFigure 2Low-power examination revealing a well-circumscribed tumor composed of solid and hollow tubules and occasional anastomosing cords distributed within the hypocellular, densely collagenous stroma. Hematoxylin and eosin stain, original magnification ×40. (B) High-power examination. Note entrapped seminiferous tubules lacking spermatogenesis. Hematoxylin and eosin stain, original magnification ×100.Open in a separate windowFigure 3Nuclear expression of steroidogenic factor 1 in the tumor as well as benign Sertoli cells in entrapped seminiferous tubules (original magnification ×200). (B) Focal calretinin expression in the tumor (inhibin had a similar staining pattern; original magnification ×100).     

Familial Paragangliomas: Case Report and Literature Review

ObjectiveTo report a case of a woman with poorly controlled hypertension who was found to have multiple paragangliomas and mutation in the B subunit of succinate dehydrogenase (mitochondrial complex II).MethodsThe pathogenesis of familial paragangliomas and case management are discussed, and the relevant literature is reviewed.ResultsIn a 68-year-old woman with a long-term history of hypertension, bilateral carotid body paragangliomas had been resected at 24 and 57 years of age. Current laboratory studies showed an elevated plasma normetanephrine level. Computed tomography and magnetic resonance imaging revealed 3 paragangliomas—1 in the middle mediastinum and 2 intra-abdominally. Surgical excision involved a 2-stage procedure with the patient under the same general anesthesia: (1) a median sternotomy without cardiopulmonary bypass and (2) a midline celiotomy for removal of the retroperitoneal paragangliomas. All 3 tumors were focally adherent to adjacent structures (the left atrium, the uncinate process of the pancreas, and the left renal vessels). All tumors were completely excised without complication, and frozen section analysis confirmed that they were paragangliomas. Genetic testing disclosed a germline mutation in SDHB.ConclusionFamilial paraganglioma is a rare autosomal dominant, tumorigenic disorder affecting sympathetic and parasympathetic paraganglia. (Endocr Pract. 2008;14:603-606)     

Xanthoma Disseminatum: Case Report and Literature Review

ObjectiveTo report a case of a young normolipidemic woman with mucocutaneous xanthomas who developed neurogenic diabetes insipidus and hyperprolactinemia because of an inflammatory pituitary stalk lesion.MethodsThe clinical features, laboratory results, magnetic resonance imaging, and pathology findings are presented. In addition, the pertinent literature is reviewed.ResultsA 23-year-old woman presented with a 9-month history of polydipsia, polyuria, galactorrhea, secondary amenorrhea, and weight gain. Her previous medical history included chronic anemia and widespread mucocutaneous xanthomas. Laboratory tests showed hyperprolactinemia, normal electrolytes, and a normal lipid profile. The results of a water deprivation test were compatible with neurogenic diabetes insipidus, and cerebral magnetic resonance imaging showed pituitary stalk thickening. Histologic findings on a skin biopsy specimen supported the diagnosis of non-Langerhans histiocytosis. Treatment was initiated with cabergoline, nasally administered desmopressin, radio-frequency ablation of facial skin lesions, and surgical excision of other accessible lesions.ConclusionXanthoma disseminatum is a rare, benign proliferative disorder characterized by extensive cutaneous and mucous membrane xanthomas in normolipidemic patients. Central nervous system involvement is rare and usually occurs in the systemic variety. Pituitary stalk disease commonly causes hyperprolactinemia, diabetes insipidus, and various degrees of hypopituitarism. The natural history of xanthoma disseminatum usually is benign, but lesions in critical anatomic sites may result in morbidity and mortality. (Endocr Pract. 2010;16:1003-1006)     

Multiglandular Parathyroid Carcinoma: Case Report and Review of The Literature

ObjectiveTo report the fifth case of multiglandular parathyroid carcinoma and highlight the necessity of bilateral neck exploration in some circumstances.MethodsWe report a case of simultaneous bilateral and multiglandular parathyroid carcinoma in a 48-yearold woman presenting with primary hyperparathyroidism. Ultrasonography revealed a 24-by 24-by 34-mm nodule on the right lobe of the thyroid and a 20-by 20-by 32-mm parathyroid gland inferior to the left thyroid lobe. Technetium Tc 99m sestamibi scan revealed bilateral increased uptake consistent with the parathyroid glands. She was treated with bilateral neck exploration and parathyroidectomy with en bloc resection of the adjacent thyroid lobe in the right lower gland and parathyroidectomy with resection of surrounding soft tissue in the left lower gland.ResultsThe presence of a thick fibrous capsule, invasion of surrounding tissues, trabecular and solid growth pattern without necrotic foci, and vascular invasion on pathology slides enabled the diagnosis of parathyroid carcinoma of both glands. Her calcium and parathyroid hormone levels were within normal limits during a follow-up period of 4 years.ConclusionSince surgical resection offers the only curative treatment and initial operation may be the determinant of survival, a high index of suspicion for carcinoma both clinically and intraoperatively is vital. We aim to reemphasize that bilateral neck exploration in select cases of parathyroid carcinoma should be considered if there is concrete evidence of a second tumor, since parathyroid carcinoma can coexist with hyperplasia, adenoma, or even carcinoma of other parathyroid glands. (Endocr Pract. 2011;17:e79-e83)     

The Wilson-Mikity Syndrome—Case Report and Review of Literature

The Wilson-Mikity Syndrome is a newly described respiratory ailment of very premature infants. It is typified by its characteristic clinical course, with onset after a period of well-being, and radiologic findings of coarse infiltrates alternating with cystic changes. At least four cases have occurred in the last two years at the University of California Medical Center, San Francisco. An exemplary case is given. The pathophysiology of the syndrome appears to relate primarily to abnormal ventilation perfusion relationships resulting from uneven lung compliance. It is suggested that the syndrome results from a distortion of the normal development of the fetal lung.     

Nonfunctioning Parathyroid Carcinoma: Case Report and Review of Literature

ObjectiveTo report a case of nonfunctioning parathyroid carcinoma that was incidentally found during a thyroidectomy for multinodular goiter.MethodsWe present a case report, detailing the clinical course and histologic findings in a patient with a nonfunctional parathyroid carcinoma. The related literature is also reviewed.ResultsA 67-year-old woman presented with a 30-year history of a multinodular goiter that was symptomatic. A total thyroidectomy was performed. Histologic examination revealed not only a multinodular thyroid but also a mass in the left lobe, which was diagnostic of a parathyroid carcinoma. Serum calcium and parathyroid hormone levels were normal postoperatively. Eleven months after the initial operation, a suprasternal mass developed, and she underwent neck reexploration and subtotal resection of an invasive recurrent nonfunctioning parathyroid carcinoma. The serum parathyroid hormone and calcium levels were normal before and after the operation. Postoperatively, the patient underwent radiation therapy. Twenty-three months after the initial operation, a computed tomographic scan of the chest revealed an interval increase in size of a nodule in the left lower lobe of the lung, and 30 months after her initial operation, she underwent resection of an isolated, 1-cm (greatest diameter), metastatic parathyroid carcinoma in the left lower lobe of the lung. The patient is currently doing well without evidence of recurrent disease.ConclusionNonfunctioning parathyroid carcinomas are difficult to diagnose and to treat. Recurrent disease after operation is common, and radiation therapy may help stabilize tumor growth. Patients with nonfunctioning parathyroid carcinomas appear to have a poorer prognosis than do those with functioning parathyroid cancers. (Endocr Pract. 2007;13:750-757)     

甲状腺浆细胞瘤1 例及文献复习

目的:探讨甲状腺浆细胞瘤的病理学特点及临床表现。方法:对1例甲状腺浆细胞瘤进行组织学表现、免疫组化染色观察及文献复习。结果:组织学特点:肿瘤细胞成分单一,大多数为分化较为成熟的肿瘤性浆细胞,胞核圆形或卵圆形,大小较一致,常偏位,染色质呈车辐状或钟面状。免疫组化特点:肿瘤细胞表达CD20(++)、CD79a(+)、CD38(++)、CD138(+)、κ链(++)。结论:甲状腺浆细胞瘤是甲状腺一种少见的肿瘤,应同炎症反应的浆细胞增生及低分化癌、淋巴瘤、髓样癌等相鉴别,可以通过免疫组化染色及形态学观察进行鉴别诊断。     

特发性腹膜后纤维化一例并文献复习

目的:分析腹膜后纤维化(RPF)的诊断以及治疗情况,以提高对RPF的认识。方法:回顾性分析我科18F-FDGPET/CT诊断的1例RPF患者的临床资料,并对相关文献进行复习。结果:本例患者以腹胀及右下腹部隐痛不适就诊,腹部CT表现为腹主动脉周围肿块,18F-FDGPET/CT显示腹膜后间隙中线大血管周围糖代谢增高肿块,经CT引导下穿刺及手术病理确诊为特发性腹膜后纤维化。结论:腹膜后纤维化属罕见病,CT、MRI在诊断中有较重要作用,PET/CT在IRPF的诊断及治疗随访中有比较重要的价值,在治疗方面,糖皮质激素治疗效果较好,晚期常需要手术治疗。     

Lasiodiplodia theobromae Keratitis: A Case Report and Review of Literature

A case report and review of literature is reported of a rare case of fungal keratitis from eastern India. A 32-year-old woman with a history of vegetative trauma presented with keratitis in left eye. Microbiological examination of corneal scraping showed refractile hyphae with aseptate branching filaments and black pigmented colonies on multiple solid agar medium. Organism was identified from culture using D1/D2 region of LSU (Large Sub Unit: 28S rDNA)-based molecular technique. PCR amplified a band with a sequence that was 100?% homologous with Lasiodiplodia theobromae. The organism was susceptible to amphotericin B and voriconazole and demonstrated resistance to itraconazole and fluconazole. A therapeutic keratoplasty was performed following non-responsiveness to initial topical voriconazole (2?%) therapy. Recurrence in graft was controlled with topical voriconazole and intracameral amphotericin B. However, the graft failed at the end of 3?months. L. theobromae is a rare cause of fungal keratitis. Management of these cases is difficult, often involving surgical procedures.     

Auricular Chromoblastomycosis: A Case Report and Review of Published Literature

Subcutaneous chromoblastomycosis is an infection commonly seen in tropical and subtropical climates, usually caused by trauma with vegetables and often affects the host’s lower limbs. We report a case of auricular chromoblastomycosis in a 67-year-old man and discuss the rarity of this clinical manifestation of chromoblastomycosis in the medical literature. In the present case, the etiologic agent was Fonsecaea pedrosoi, the most common agent found in Brazil.     

肺放线菌病1 例报告并文献复习

目的：分析肺放线菌病的临床表现、诊断及治疗,提高对肺放线菌病的认识。方法：回顾性分析我科收治的1 例肺放线菌病 患者的临床资料,并对相关文献进行复习。结果：本例患者,43 岁,男性,以咳嗽、咳血性痰为主要临床表现,胸部CT 提示右肺上 叶结节,经皮肺穿刺活检结果确诊肺放线菌病,青霉素治疗效果好。结论：肺放线菌病是放线菌感染引起的一种少见的呼吸系统 疾病,起病隐匿,呈渐进性过程,临床表现及影像学检查均无特异性,放线菌可在肺部引起化脓性肺炎,并经叶间隙、胸膜侵犯胸 壁、肋骨,形成窦道及破坏骨质。确诊有赖于病理学或微生物学证据,主要可采用青霉素抗感染治疗,在疑似肿瘤的情况下,需通 过外科手术治疗,既可以明确诊断也避免病变进一步引起肺、胸壁等组织的不可逆性破坏。