Radiation therapy in treatment of fibrodysplasia ossificans progressiva: a case report and review of the literature

Fibrodysplasia ossificans progressiva (FOP) is an extremely rare genetic disorder with diffuse extra-skeletal bone formation. The genetic mutation responsible for FOP has recently been discovered and is connected with excessive activation of bone morphogenetic protein receptor. This disease usually begins with typical ossification pattern in early childhood, causing increasing disability and making patients totally disabled by the age of 30. Ectopic ossification develops spontaneously and can be triggered by any trauma and even intramuscular injections. The symptoms of FOP are often misdiagnosed as cancer, causing unnecessary biopsies, which can precipitate further progressive heterotopic ossification. There is no effective treatment for this severe condition. Radiotherapy can be helpful in impeding ossification, although the strict evidence for that is lacking. There are only two reports in the literature referring to the use of radiotherapy in treatment of FOP. Herein, we present a 35-year-old patient successfully treated with small doses of fractionated radiotherapy in several courses. This case indicates that radiotherapy can be useful in treating patients with FOP.     

儿童不典型黄癣1例报告及文献复习

报告1例由许兰毛癣菌(Trichophyton schoenleinii)引起的儿童不典型黄癣,患儿临床症状轻微,缺乏蜡黄色、碟形黄癣痂和特殊的鼠臭味等典型临床症状.病发真菌直接镜检见大量不规则菌丝,间生膨大,大小不等、形态不规则的孢子,真菌培养为许兰毛癣菌生长,经分子生物学测序鉴定证实.E-test药敏结果显示伊曲康唑、两性霉素B、卡泊芬净及伏立康唑均敏感.经口服伊曲康唑胶囊及外用2％舍他康唑乳膏治疗基本痊愈.     

Lymphoplasmacytic sclerosing pancreato-cholangitis: a case report and review of the literature

Autoimmune pancreatitis is a rare but important cause of pancreatitis that is becoming increasingly recognized in the West. Lymphoplasmacytic sclerosing pancreatitis (LPSP) is a benign form of chronic pancreatitis characterized clinically by infrequent attacks of abdominal pain, jaundice, and weight loss, and pathologically by focal or diffuse chronic or lymphoplasmacytic inflammatory infiltrates centered around pancreatic ducts and ductules, accompanied by obliterative phlebitis, acinar atrophy, and interstitial fibrosis. It has been described alone or as a part of the spectrum of autoimmune gallbladder and biliary tract disease, with clinical, radiological, and pathological overlap reported with primary sclerosing cholangitis. It has been described as "primary sclerosing pancreatitis," "sclerosing cholangitis," "non-alcoholic duct destructive chronic pancreatitis," and "autoimmune pancreatitis." We report a case of LPSP that mimicked pancreatic adenocarcinoma and was subsequently treated with a pylorus-preserving Whipple procedure. This may point towards a primary biliary autoimmune process involving the pancreatic duct, causing a benign form of chronic pancreatitis that may be difficult to characterize pre-operatively to avoid surgery. This case typifies the growing awareness of this relatively recently characterized clinical entity, its similar presentation to pancreatic carcinoma, and the importance for LPSP to be included in the differential diagnosis of pancreaticobiliary disease. Finally, we review the literature.     

原发肾上腺淋巴瘤1例并文献复习

目的:探讨原发肾上腺淋巴瘤(PAL)的临床特点,提高对该病的认识.方法:对1例原发肾上腺淋巴瘤患者的资料进行分析,并结合国内外相关文献进行总结.结果:原发肾上腺淋巴瘤好发于老年男性,可表现为局部症状如腹痛,腰痛,也可表现为乏力,发热,体重减低等全身症状,50%病人可出现肾上腺功能不全的症状.一些病人是在行影像学检查时因偶然发现肾上腺的肿物,经病理检查而确诊的.该病多累及双侧肾上腺,最常见的病理类型是弥漫大B细胞型.原发肾上腺淋巴瘤的治疗包括手术、化疗、放疗以及它们的不同组合.该病恶性程度高,进展迅速,预后差.结论:原发肾上腺淋巴瘤虽然少见,但在肾上腺肿瘤,尤其是快速增长的肾上腺肿瘤的鉴别诊断中应考虑到它的可能,及时进行病理检查可尽早确诊.     

Hyperbaric oxygen therapy for radiation-induced brachial plexopathy,a case report and literature review

AimTo report a case of radiation-induced brachial plexopathy (RIBP) with significant radiographic and clinical improvement after a course of hyperbaric oxygen (HBO).BackgroundRIBP is a rare complication after radiotherapy to the neck and axilla. There are no standard treatment options, with empirical use pharmacotherapy being predominately used, which has had mixed results.HBO is efficacious for the treatment of other severe radiation-induced side effects, however, its benefit in RIBP has conflicting reports.Case PresentationA 45-year-old male, with a 33 pack-year smoking history, presented with a 6-month history of a progressive left neck mass. The final diagnosis was unknown primary squamous cell carcinoma of the head and neck. He received intensity-modulated radiation therapy (IMRT) with 70 Gy prescribed to the gross tumor volume (PTV HR) and 56 Gy to the oropharynx, nasopharynx, and bilateral lymphatics (PTV SR) in 35 daily fractions with three cycles of concurrent cisplatin at 100 mg/m².Fifteen months following therapy completion, the patient began to endorse symptoms of left brachial plexopathy. Decadron was prescribed for 2 weeks, trental and vitamin E for 6 months, and HBO. The patient returned for follow-up 2 months after completing 30 dives of HBO at 2.4 atmospheres for 2 hours per session. He reported pain resolution and full range of motion of his left arm.ConclusionsThe best management strategy of RIBP is prevention by reducing total RT doses and close follow-up. However, when RIBP occurs, we recommend treatment with HBO therapy, steroids, trental, and vitamin E as tolerable.     

Malignant struma ovarii: report of a case and review of the literature

Malignant struma ovarii is a very rare disease and therefore there is neither common agreement on treatment regimens nor sufficient follow-up experience. The case of a 38-year-old woman with malignant struma ovarii is described. The patient presented with a clinically silent ovarian neoplasm discovered incidentally during investigations for metrorrhagia. The ovarian mass was resected and the tumor was found to be a teratoma. Within the teratoma a papillary thyroid carcinoma of the follicular variant was found. Subsequently, in order to make follow-up of the patient possible by thyroglobulin measurement and radioiodine whole body scintigraphy, near-total thyroidectomy was performed and the thyroid was found to be normal on histology. Whole body radioiodine scintigraphy with (131)I and ablation of the thyroid remnant by the administration of 80 mCi (131)I was performed. The patient recovered uneventfully and is now well.     

Twin fetus in fetu in a child: a case report and review of the literature

Introduction

Necrotizing fasciitis is a rare condition with a mortality rate of around 34%. It can be mono- or polymicrobial in origin. Monomicrobial infections are usually due to group A streptococcus and their incidence is on the rise. They normally occur in healthy individuals with a history of trauma, surgery or intravenous drug use. Post-operative necrotizing fasciitis is rare but accounts for 9 to 28% of all necrotizing fasciitis. The incidence of wound infection following saphenofemoral junction ligation and vein stripping is said to be less than 3%, although this complication is probably under-reported. We describe a case of group A streptococcus necrotizing fasciitis following saphenofemoral junction ligation and vein stripping.

Case Presentation

A 39-year-old woman presented three days following a left sided saphenofemoral junction ligation with long saphenous vein stripping at another institution. She had a three day history of fever, rigors and swelling of the left leg. She was pyrexial and shocked. She had a very tender, swollen left groin and thigh, with a small blister anteriorly and was in acute renal failure. She was prescribed intravenous penicillin and diagnosed with necrotizing fasciitis. She underwent extensive debridement of her left thigh and was commenced on clindamycin and imipenem. Post-operatively, she required ventilatory and inotropic support with continuous veno-venous haemofiltration. An examination 12 hours after surgery showed no requirement for further debridement. A group A streptococcus, sensitive to penicillin, was isolated from the debrided tissue. A vacuum assisted closure device was fitted to the clean thigh wound on day four and split-skin-grafting was performed on day eight. On day 13, a wound inspection revealed that more than 90% of the graft had taken. Antibiotics were stopped on day 20 and she was discharged on day 22.

Conclusion

Necrotizing fasciitis is a very serious complication for a relatively minor, elective procedure. To the best of our knowledge, this is the first report in the English-language literature of this complication arising from a standard saphenofemoral junction ligation and vein stripping. It highlights the need to be circumspect when offering patients surgery for non-life-threatening conditions.     

Hyperparathyroidism in pregnancy: case report and review of the literature.

The apparent incidence of hyperparathyroidism (HPT) is low in pregnancy but will likely increase now that more asymptomatic HPT is being diagnosed. However, since the serum calcium levels are decreased in pregnant women, mild primary HPT may go unrecognized. In untreated cases of HPT, complications during pregnancy or during the neonatal period have included spontaneous abortion, stillbirth, neonatal death, neonatal tetany and hypercalcemia. A review of the literature indicates a substantial improvement in fetal outcome when parathyroidectomy is done during pregnancy, as in the case reported here. Therefore, parathyroidectomy is the treatment of choice when the diagnosis is made during pregnancy, although oral phosphate therapy may be an alternative if surgery is contraindicated.     

Clostridial abomasitis in calves: case report and review of the literature

Infections by Clostridium perfringens type A are perhaps the most common causes of clostridial hemorrhagic enteritis in neonatal ruminants. Affected calves exhibit tympany, hemorrhagic abomasitis, and abomasal ulceration. Gram-positive bacilli are often found on affected mucosa and in submucosa. Aspects of etiology beyond the infecting organism are little understood, but probably include dietary issues, perhaps relating to overfeeding, feeding of barely thawed or contaminated colostrum, or conditions which effect decreased gut motility. Fatal hemorrhagic enteritis in a cloned gaur calf is illustrative of the syndrome. The calf developed pasty yellow and bloody diarrhea, and the abdomen became distended and painful. In spite of intensive therapy, the calf died approximately 48 h after birth. At necropsy, the distended abomasum contained clotted milk and bloody fluid, and the abomasal and omasal walls were thickened and hemorrhagic. The proximal duodenum was hemorrhagic and emphysematous, and microscopic examination revealed Gram-positive rods in association with acute, necrotizing, hemorrhagic mucosal inflammation. Isolates of C. perfringens from this calf were PCR positive for cpb2, the gene encoding beta2 toxin. This finding is of unknown significance; only 14.3% (8/56) of isolates from other calves with the syndrome have been cpb2 positive, and only 50% of cpb2 positive bovine isolates express CPB2. The most prominent needs to further our understanding of this problem are consistent experimental reproduction of the disease, elucidation of virulence attributes, and development and application of prevention and control strategies.     

Human pentastomiasis in China: case report and literature review

A 13-yr-old boy was admitted because of persistent fever, abdominal pain and diarrhea for 3 mo. Abdomen CT revealed hepatomegaly and multiple nodular low-density pathological changes. At laparotomy considerable yellow and turbid ascites were seen in the abdominal cavity and miliary nodules were noted on the surface of the omentum majus, liver, and small intestine wall. Histological examination revealed parenchymal tubercles containing several worms. Pathological diagnosis was parasitic granuloma. These parasites were identified as Porocephalus taiwana sp.nov. The patient made an uneventful recovery after therapy and was discharged. Moreover, another 17 cases of human pentastomiasis reported from China were reviewed. Human pentastomiasis is an extremely rare disease and this is only the second case of human Porocephalus taiwana sp.nov infection. Pentastomiasis should be considered in differential diagnosis of patients with a history of abdominal symptoms and eating of poorly-cooked snakes.     

Cutaneous ciliated cyst: case report and literature review

An 18-year-old girl had a cyst excised from the left buttock in 1988. The cyst was diagnosed to be a cutaneous ciliated cyst, since histologic examination using special stains demonstrated its lining to be similar to fallopian tube epithelium. Only 20 such cases have been published to date, and this report is probably the first case in the plastic surgical literature, to the best of our knowledge.     

Myoepithelioma within the carpal tunnel: a case report and review of the literature

Myoepitheliomas of the extremity are rare and usually benign, while a minority display malignant features. This case demonstrates the diagnosis and management of myoepithelioma within the carpal tunnel. Clinical and radiological tumour features were evaluated. Hematoxylin and eosin stained tumour sections were examined, and immunohistochemistry was performed. Histology revealed a nodular mass of epithelioid cells in clusters within a myxoid/chondroid stroma. No mitoses were noted. Cytokeratins, neuron-specific enolase, synaptophysin, glial fibrillary acidic protein, and S100 were positive on immunohistochemistry. A literature review revealed very few prior reports of myoepithelioma in the wrist, and limited data concerning any relationship between recurrence and quality of surgical margins. In this case, wide local excision would have significantly compromised dominant hand function, and therefore a marginal excision was deemed appropriate in the context of bland histological features. Surgical margins noted in future case reports will aid clinical decision making.     

Sclerosing variant of PEComa: report of a case and review of the literature

Tumours of perivascular epithelioid cells (PEComas) are a heterogeneous group of uncommon mesenchymal neoplasms which exhibit a peculiar immunohistochemical co-expression of muscle and melanocytic markers. PEComas occur at various visceral and soft tissue sites, generally with a benign clinical course. Nevertheless, there has been evidence of cases having an unfavourable outcome, thus prompting investigation of pathological criteria for malignancy. A sclerosing variant of PEComa, more frequently encountered in the retroperitoneum of middle-aged women, has been reported. Prognosis has generally been regarded as favourable and complete surgical excision appears to be adequate treatment. To the best of our knowledge, only two cases of sclerosing PEComa displayed high-grade malignant morphology and were associated with adverse outcome. An additional case of retroperitoneal sclerosing PEComa with a two-year follow-up and indolent behaviour is herein described. Light and electron microscopy were performed, along with immunohistochemical analysis. Further studies are needed to clarify the histogenesis and to predict the biological behaviour of this uncommon entity.     

Spontaneous regression of congenital epulis: a case report and review of the literature

Introduction

Congenital epulis is a rare lesion found on the alveolar process of a newborn child, diagnosed soon after birth. The lesion has a site predilection for the anterior maxillary alveolar process and a 9:1 sex predilection for females. Once diagnosed the traditional management of the lesion has been surgical excision under general anesthesia.

Case presentation

The purpose of this case report is to describe spontaneous regression of congenital epulis in a three week old healthy African American female child. She presented with a 1.5 cm bilobed sessile nodular lesion in the region of the right maxillary cuspid. The clinical impression was congenital epulis. Since the lesion was not interfering with feeding and respiration, a conservative approach was taken. The child was followed-up for 18 months, during which the lesion progressively regressed.

Conclusions

Conservative management prevented unnecessary surgery and anesthesia exposure in a neonate.