血管内NK细胞淋巴瘤的临床病理分析

目的探讨血管内NK细胞淋巴瘤(IVNKL)的临床病理特征及预后特点,以提高对这一罕见疾病的认识。方法采用HE、免疫组织化学染色（EliVision法）和原位杂交技术,结合临床资料对2例IVNKL进行分析,对文献中的7例及该组2例患者进行临床病理学特征分析和预后比较。结果2例患者分别为68岁女性和22岁男性,均表现为躯干和四肢皮疹伴发热,皮肤活检结果符合典型的血管内淋巴瘤,免疫表型证实为NK细胞来源,即CD3、CD56、颗粒酶B和EBV编码的小RNA探针(EBER)阳性。2例患者均于确诊2个月后死亡。汇总文献,9例患者中男4例,女5例,平均年龄45.7岁,中位数47岁,红斑皮疹是最常见的临床表现,7例患者病程中出现多系统受累,3例中枢神经系统受累。随访时间2～17个月,9例中6例死亡,中位生存时间为9个月,1年生存率为(35.6±18.6)％。多系统受累患者的死亡率( 6/7)略高于单纯皮疹者(0/2),但差异无统计学意义(P =0.083)。结论IVNKL是一种罕见疾病,确诊需要依据典型组织学特点,并结合免疫表型分析和EBER原位杂交检测。该病预后较差,需尽早确诊、及时治疗,以避免多系统受累。     

Cutaneous metastasis of prostate carcinoma to neck and upper chest

Prostate adenocarcinoma is the most common urologic malignant neoplasm in men. Metastasis to skin is rarely reported and usually occurs late. The incidence and appearance of cutaneous metastasis are not well established in patients with prostate adenocarcinoma and their recognition remains poor among practicing urologists. Their clinical appearance may mimic other common dermatologic disorders. Definitive diagnosis requires a high index of suspicion. Immunohistochemical staining helps in establishing the diagnosis. We report a case of prostate adenocarcinoma presenting with widespread metastasis, including those to dermis and subcutaneous tissue of neck and upper chest.     

Leprous neuromyositis: A rare clinical entity and review of the literature

Mycobacterium leprae, the causative agent of leprosy (Hansen’s disease), is a slow growing intracellular acid-fast bacillus that affects the skin, peripheral nerves and respiratory tract. In patients with suppressed cell-mediated immunity, the infiltration of the Bacilli can produce disseminated illness such as leprous neuromyositis. We reported a case of 56-year-old gentleman presenting with pyrexia of unknown origin, asymmetric sensory motor axonal polyneuropathy and was on chronic exogenous steroid therapy. On evaluation, his skin, muscle, nerve and bone marrow biopsy showed numerous globi of acid-fast Bacilli suggestive of leprous neuromyositis, a rare form of disseminated Hansen’s disease. We reported this case in view of its rarity, atypical manifestation of a relatively rare disease and literature review on poor electrophysiological correlation in the diagnosis of leprous neuromyositis as compared to the histopathological examination.     

Varicella-Like Cutaneous Toxoplasmosis in a Patient with Aplastic Anemia

A 60-year-old patient with aplastic anemia presented with vesicular varicella-like skin lesions on her face, arms, legs, back, and abdomen. However, diagnosis for herpetic infection was negative. Findings of a skin biopsy led to a tentative histologic diagnosis of toxoplasmosis, and infection with Toxoplasma gondii was confirmed by immunohistochemistry and PCR. Cutaneous toxoplasmosis is a rare finding in immunocompromised patients and might mimic other infectious diseases, and vesicular lesions associated with toxoplasmosis have not been reported previously.     

背部皮肤软组织放线菌病一例并文献回顾

目的探讨皮肤软组织放线菌病的临床表现、诊断、鉴别诊断及治疗，提高创面外科医师对皮肤软组织放线菌病的认识。 方法报道1例背部皮肤软组织放线菌病的诊治经过，分别以"放线菌、放线菌感染、皮肤、软组织"及"actinomycosis，cutaneous，soft tissue"为检索词检索中国知网和PubMed的相关文献并进行分析。 结果与所检索20篇文献相比，本例皮肤放线菌病的临床表现、鉴别诊断及治疗既典型又具自身特点。本例患者入院时并未表现出明显皮肤肿物，但皮下感染组织内多个窦道，伴较多土褐色脓液流出较为典型。本例患者入院第9天才培养出放线菌，但无论是术中肉眼观察、细菌培养还是组织病理学检查均未见典型"硫磺颗粒"。本例患者查体、术中所见及辅助检查结果和气性坏疽的临床表现高度相似，因此最初曾高度怀疑产气荚膜梭菌感染，但多次细菌培养及涂片均未提示产气荚膜梭菌感染。治疗主要包括全身状态的调整、手术清创及抗生素的应用。 结论原发于皮肤软组织的放线菌病较少见，临床表现多样，即便有相对典型特征，也并无特异性，诊断需综合考虑并鉴别诊断。皮肤软组织放线菌感染发病率低，不易诊断，需引起创面外科医师的注意，及早对本病作出诊断及治疗。     

产前诊断先天性多发性关节挛缩症的探索

先天性多发性关节挛缩症(arthrogryposis multiplex congenita,AMC)是一种少见的先天性疾病,产前诊断先天性多发性关节挛缩症更是罕见,国内仅有极少数例报道。我们最近报道2例,除2个或以上关节屈曲,挛缩外,其中1例的一些体征,如小下颌,颈蹼,颈部皮肤增厚,积水(水肿),上下肢蹼状畸形等国内未见报道;结合国外学者产前诊断的相关文献报道,提出先天性多发性关节挛缩症的超声产前诊断和鉴别要点,超声产前诊断先天性多发性关节挛缩症进行有价值的探索。     

Kiwi fruit is a significant allergen and is associated with differing patterns of reactivity in children and adults

BACKGROUND: Allergy to kiwi fruit appears increasingly common, but few studies have evaluated its clinical characteristics, or evaluated methods of investigating the allergy. OBJECTIVE: To characterize the clinical characteristics of kiwi fruit allergy and to study the role of double-blind placebo-controlled food challenge (DBPCFC), skin tests and specific IgE in the diagnosis of this food allergy. METHODS: Two-hundred and seventy-three subjects with a history suggestive of allergy to kiwi completed a questionnaire. Forty-five were investigated by DBPCFC, prick-to-prick skin testing with fresh kiwi pulp, and specific IgE measurement. Nineteen subjects were also skin tested using a commercially available solution. RESULTS: The most frequently reported symptoms were localized to the oral mucosa (65%), but severe symptoms (wheeze, cyanosis or collapse) were reported by 18% of subjects. Young children were significantly more likely than adults to react on their first known exposure (P<0.001), and to report severe symptoms (P=0.008). Twenty-four of 45 subjects (53%) had allergy confirmed by DBPCFC. Prick-to-prick skin test with fresh kiwi was positive in 93% of subjects who had allergy confirmed by DBPCFC, and also in 55% of subjects with a negative food challenge. The commercial extract was significantly less sensitive, but with fewer false-positive reactions. CAP sIgE was only positive in 54% of subjects who had a positive challenge. CONCLUSIONS: Kiwi fruit should be considered a significant food allergen, capable of causing severe reactions, particularly in young children. DBPCFC confirmed allergy to kiwi fruit in 53% of the subjects tested, who had a previous history suggestive of kiwi allergy. Skin testing with fresh fruit has good sensitivity (93%), but poor specificity (45%) in this population. CAP sIgE and a commercially available skin test solution were both much less sensitive (54%; 75%) but had better specificity (90%; 67%).     

Disseminated penicilliosis in a patient with acquired immunodeficiency syndrome

We describe a case of disseminated penicilliosis in a patient with the acquired immunodeficiency syndrome. Penicillium marneffei was cultured from the blood, bone marrow, sputum, stool, and skin; the yeast forms were demonstrated in skin and bone marrow biopsy specimens. To our knowledge, this is the first reported case of disseminated penicilliosis described in a patient with the acquired immunodeficiency syndrome. The differential diagnosis with Histoplasma capsulatum is reviewed.     

Diagnosis of IgE-mediated allergy in the upper respiratory tract

A statistical analysis was made of data concerning diagnosis of IgE-mediated allergy in the upper respiratory tract in 292 patients. A study was made of: skin test, total and specific IgE (RAST), X-sinus, red blood investigation, and cytology of nasal smear. It appears that screening for the presence of an IgE-mediated allergy in the upper respiratory tract can be performed efficiently with a limited number of skin tests (rye grass, timothy, birch, house dust mite and cat). In this study a greater number of skin tests (15 instead of 5) yielded little additional information (in 2% of the patients). A rather poor correlation between skin test and RAST was found.     

Multifocal sporotrichosis with meningeal involvement in a patient with AIDS.

This report describes a 29-year-old man with AIDS and disseminated lymphocutaneous sporotrichosis diagnosis presenting a poor therapeutic adhesion to itraconazole therapy that later evolved to neurological impairment and death. Necropsy showed granulomatous reaction and yeast-like forms similar to Sporothrix schenckii in meninges, lymph nodes, marrow bone, skin, testicles, epididymides and pancreas. Meningeal sporotrichosis cases associated to AIDS are reviewed in brief.     

Tetrasomy 8 as a primary chromosomal abnormality in a child with acute megakaryoblastic leukemia. a case report and review of the literature

Tetrasomy 8 is a relatively rare chromosomal abnormality in hematological disorders, and is mostly associated with myeloid malignancies and poor prognosis. In a number of cases, tetrasomy 8 has been reported as an accompanying anomaly with other chromosomal changes. In this report, we describe a 14-year-old girl with acute megakaryoblastic leukemia associated with tetrasomy 8 (primary) and trisomy 6, 19 and 20. She died 6 months after diagnosis, suggesting a relatively poor prognosis for AML with tetrasomy 8. To the best of our knowledge, this is the first report of a tetrasomy 8 abnormality associated with subtype FAB M7. Interestingly, this abnormality has not been previously reported in childhood AML patients.     

Unusual cutaneous metastatic carcinoma

Most of metastatic tumors to the skin are from primary tumors of the breast, lung, or from melanoma; metastases to the skin from primary carcinomas at other sites are rare. Cutaneous metastases of visceral carcinomas most often occur in patients with advanced disease, and are associated with a poor prognosis. We report 6 cases of nonmammary, nonpulmonary carcinoma metastatic to the skin. Most patients were elderly with advanced disease at the time of diagnosis of skin metastasis. The primary tumor sites included the thyroid, esophagus, biliary tract, ovary, and prostate. Awareness of these rare cases of metastasis to the skin will help pathologists and clinicians make the correct diagnosis.     

Findings before diagnoses of asthma among the elderly in a longitudinal study of a general population sample.

Forty elderly subjects who denied ever having asthma or emphysema on enrollment in a longitudinal epidemiologic study later reported consulting a doctor for asthma when they were older than 60 years of age. The average age at which the diagnosis was reported was 70.8 years, after a mean follow-up of 8.5 years. Findings on enrollment in the newly diagnosed subjects with asthma are compared with findings in the 1145 subjects who provided follow-up information when they were older than age 60 years but had never developed asthma. At the time of enrollment, most subjects later diagnosed as having asthma already had wheezing symptoms, suggesting at least a mild asthmatic state, and many subjects had impaired ventilatory function, a positive allergy skin test (especially in association with rhinitis), and blood eosinophilia. Thirty-five percent of the subjects recalled "respiratory trouble before age 16" despite denying prior asthma. The likelihood of a new asthma label was very closely related to the age-sex-standardized serum-IgE level before diagnosis. Newly diagnosed subjects with asthma demonstrated much greater rates of decline in FEV1 than control subjects or than subjects who already had known asthma on enrollment. We conclude that (1) symptoms suggesting asthma are usually present for many years before the diagnosis of the disease in elderly subjects, (2) the serum-IgE level is closely related to the likelihood of a subsequent asthma diagnosis, even in this age group, and (3) a rapid fall in lung function often occurs around the time of initial diagnosis.     

Cutaneous angiosarcoma arising after radiotherapy treatment of a breast carcinoma. Description of a case and review of the literature

Cutaneous angiosarcomas occurring as a complication of radiation therapy for breast cancer are rare. To the best of our knowledge 37 cases have been reported in English literature during the last two decades. We describe a case of angiosarcoma arising in the skin of a breast previously irradiated for breast carcinoma. The patient, a 74-year-old woman, had been treated with conservative surgery and radiotherapy for a pT1N0 infiltrating ductal carcinoma of the left breast in 1993. Nine years later a skin lesion, which was interpreted as a recurrence, arose in the same site. A biopsy obtained from the lesion, and initially considered to be negative for cancer, showed istological features consistent with those of the atypical vascular lesion. Seven months later the same lesion transformed in a 5 x 3 reddish mass which at histological examination was diagnosed as an high grad post-irradiation angiosarcoma of the skin of the breast. Data on previously reported post iradiation angiosarcoma of the breast are reviewed; further consideration on differential diagnosis between those lesions and atypical vascular lesions are presented.     

Trichophyton violaceum: a rare isolate in 18-day-old neonate

Trichophyton violaceum, a less common and geographically restricted infection is reported in a 18-day-old neonate. The diagnosis was made by potassium hydroxide of skin scraping examination and confirmed by culture. The patient was treated successfully with miconazole nitrate application. A large family with crowded living was considered the main predisposing factor.     

Munchausen Stridor-A Strong False Alarm of Anaphylaxis

The diagnosis of anaphylaxis is often based on reported symptoms which may not be accurate and lead to major psychosocial and financial impacts. We describe two adult patients who were diagnosed as having recurrent anaphylaxis witnessed by multiple physicians based on recurrent laryngeal symptoms. The claimed cause was foods in one and drugs in the other. We questioned the diagnosis because of absent documentation of objective findings to support anaphylaxis, and the symptoms occurred during skin testing though the test sites were not reactive. Our initial skin testing with placebos reproduced the symptoms without objective findings. Subsequent skin tests with the suspected allergens were negative yet reproduced the symptoms without objective findings. Disclosing the test results markedly displeased one patient but reassured the other who subsequently tolerated the suspected allergen. In conclusion, these 2 patients'' symptoms and evaluation were not supportive of their initial diagnosis of recurrent anaphylaxis. The compatible diagnosis was Munchausen stridor which requires psychiatric evaluation and behavior modification, but often rejected by patients.     

Primary linitis plastica of the rectosigmoid in a thirteen year old boy

Childhood malignant neoplasms of the gut are extremely rare. The reported incidence of colorectal cancers in patients under 20 years of age is 1 in 10 million. The low index of suspicion for this tumour in children results in advanced disease at diagnosis and subsequently a poor prognosis. A rare case of a primary linitis plastica of the rectum occurring in a 13 year old boy is reported with review of pertinent literature.     

组织细胞肉瘤的临床病理观察

目的 探讨组织细胞肉瘤(histiocytic sarcoma,HS)的病理形态学、免疫表型、鉴别诊断和预后.方法 分析6例HS患者临床病理资料,对标本行光镜观察、免疫组织化学EliVision法染色,并对患者进行6～36个月的随访.结果 6例HS中男女各3例,年龄12～81岁(平均54.6岁).发生部位为淋巴结(2例)、皮肤及软组织(4例).组织形态改变:瘤细胞弥漫性浸润,呈中至大的多角形上皮样细胞,胞质丰富,嗜酸性,核圆形或不规则,空泡状,有1至多个明显核仁,核分裂象多见.细胞境界较清.6例均见双核瘤细胞,2例多形性明显,可见多核瘤巨细胞,3例可见灶状泡沫状胞质的瘤细胞,1例可见灶状肉瘤样梭性细胞区,2例可见噬血细胞现象.6例均见到多少不一的炎细胞背景.均弥漫表达白细胞共同抗原、CD4、CD68、CD163,溶菌酶染色的5例中4例阳性.4例得到随访资料,3例确诊后6～11个月内死亡,1例局限于皮肤及皮下软组织者已存活3年.结论 明确HS诊断需结合形态改变与免疫表型.该病就诊时多处于进展期,对化疗反应差,但少数病变局限的病例不表现为侵袭性过程,预后较好.     

Characterization of a long-term survivor with Stüve-Wiedemann syndrome and mosaicism of a supernumerary marker chromosome.

Stüve-Wiedemann syndrome (SWS) is typically lethal in the neonatal period; only two patients have been reported with a longer survival. We report a new patient with SWS, who at 9 years of age is one of the longest survivors with this disorder. In addition to the characteristic features of SWS, she has a number of unique clinical signs, including lack of corneal and patellar reflexes, a smooth tongue with no fungiform papillae, chronic gingival abscesses, mottled, poor dentition, blotchy pigmentation of the skin, unusual infections, multiple fractures, and progressive scoliosis. Cytogenetic analysis identified mosaicism for a supernumerary marker chromosome (SMC), seen in the majority of amniocytes, blood, and skin fibroblasts. The SMC was shown to be derived from chromosome 5 and contains euchromatin. The significance of the SMC to the etiology of SWS is unknown. This patient further demonstrates that SWS is not universally lethal.     

单核母细胞肉瘤的临床病理观察及免疫表型分析

目的探讨单核母细胞肉瘤的临床病理特征、诊断和鉴别诊断。方法从1990-2006年诊断的102例髓系肉瘤患者中筛选出5例单核母细胞肉瘤,进行临床病理回顾性研究和随访,以SP法检测其免疫表型。结果5例中男性3人,女性2人,2例为儿童,3例为成人。病程1周～12个月不等。4例有多处浅表淋巴结肿大;2例有多发性皮肤病变。免疫表型：5例瘤细胞均表达CD68（KP1）、CD68（PGM1）、溶菌酶和CD45;均不表达髓过氧化物酶、CD15、CD163、脱氧核苷酸转移酶、CD117以及T和B细胞分化抗原。Ki-67指数为40％～80％。5例患者均有随访,4例死亡,1例存活,平均生存时间6．25个月。结论单核母细胞肉瘤很少见,且预后差;在形态学上难以与粒细胞肉瘤和其他小细胞肿瘤相区别,须借助于免疫表型检测确诊。