固定型皮肤孢子丝菌病1例

1 资料与方法 1.1 临床资料 患者女,60岁。山东齐河人,在家务农。因右腕背侧斑块、红斑3个月于2003年1月就诊。患者3个月前在家砍树时被树枝刺伤,一周后伤处出现淡红色丘疹,斑丘疹,约绿豆大小,后逐渐增大,融合成斑块。表面有渗液、结痂,之后在斑块右侧出现红斑,偶痒,曾于多家医院就诊。给予抗真菌药、抗生素和皮质类固醇药物外用并抗过敏,抗结核治疗无效。     

Cytology of primary cutaneous Langerhans cell histiocytosis with a malignant phenotype. A case report

BACKGROUND: Langerhans cell histiocytosis (LCH) is a proliferative disorder of Langerhans cells, but the nature of LCH, whether reactive, benign, or malignant and neoplastic, is controversial. We encountered a case of LCH showing a malignant phenotype initially localized in the skin of an elderly woman. Since there is no other report on the cytologic appearance of primary cutaneous LCH or on LCH with a malignant phenotype, we compared the cytologic features of this case with those of benign cases at other sites reported in the literature. CASE: A 74-year-old woman presented with a gradually enlarging and partially ulcerated skin lesion expanding both sides of her right hand. On histologic and ultrastructural analyses of surgically resected tissue, we diagnosed the lesion as Langerhans cell histiocytosis originating in the skin. Although the patient had no recurrence or metastases for six months after surgical resection of the primary skin lesion and radiation therapy, the tumor extended multisystemically, and the patient died of multiple organ failure 14 months after the initial diagnosis. CONCLUSION: Imprint and scrape cytology of multiple skin lesions six months after surgery was useful in immediately diagnosing the recurrent LCH. The tumor cells had indented, twisted or grooved nuclei, and some had intranuclear inclusions. Immunocytochemically the cells were positive for CD1a and S-100 protein. Numerous eosinophils were seen in the background.     

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.     

Emperipolesis mediated by CD8+ T cells correlates with biliary epithelia cell injury in primary biliary cholangitis

Primary biliary cholangitis (PBC) is an autoimmune disease characterized by chronic destruction of the bile ducts. A major unanswered question regarding the pathogenesis of PBC is the precise mechanisms of small bile duct injury. Emperipolesis is one of cell‐in‐cell structures that is a potential histological hallmark associated with chronic hepatitis B. This study aimed to clarify the pathogenesis and characteristics of emperipolesis in PBC liver injury. Sixty‐six PBC patients, diagnosed by liver biopsy combined with laboratory test, were divided into early‐stage PBC (stages I and II, n = 39) and late‐stage PBC (stages III and IV, n = 27). Emperipolesis was measured in liver sections stained with haematoxylin‐eosin. The expressions of CK19, CD3, CD4, CD8, CD20, Ki67 and apoptosis of BECs were evaluated by immunohistochemistry or immunofluorescence double labelling. Emperipolesis was observed in 62.1% of patients with PBC, and BECs were predominantly host cells. The number of infiltrating CD3⁺ and CD8⁺ T cells correlated with the advancement of emperipolesis (R² = 0.318, P < .001; R² = 0.060, P < .05). The cell numbers of TUNEL‐positive BECs and double staining for CK19 and Ki67 showed a significant positive correlation with emperipolesis degree (R² = 0.236, P < .001; R² = 0.267, P < .001). We conclude that emperipolesis mediated by CD8⁺ T cells appears to be relevant to apoptosis of BEC and thus may aggravate the further injury of interlobular bile ducts.     

Mood disorder in a patient with Smith-Magenis syndrome: a case report

Smith-Magenis syndrome (SMS) is a microdeletion syndrome characterized by physical and neurobehavioural features. This report describes the case of a 27 year old female affected by SMS associated with a diagnosis, according to DSMIV criteria, of Mood Disorder N.O.S. and Intermittent Explosive Disorder. To our knowledge, the association of SMS with mood shifts has never been reported. Considering the genetic alterations that characterizes the SMS, further investigations on the region of the chromosome 17p11.2 could help produce more information on the role of melatonin in the genesis of mood disorder.     

Hypodipsic-hypernatremia syndrome in an adult with polycythemia: a case report

Background

Hypernatremia is a very common electrolyte disorder and is frequently encountered in out-patient as well as in-hospital settings. We describe an adult who was found to have unexplained relative polycythemia and episodic hypernatremia. A diagnosis of idiopathic hypodipsic-hypernatremia syndrome was made and the patient was managed with a water-drinking schedule.

Case presentation

A 24-year-old South African-Indian man was found to have polycythemia in association with episodes of hypernatremia. Investigations indicated that he had relative polycythemia. He experienced no thirst at a time when his serum sodium concentration was found to be 151?mmol/L. Further testing indicated that his renal response to arginine vasopressin was intact and magnetic resonance imaging of his brain revealed no hypothalamic lesions. A diagnosis of idiopathic hypodipsic-hypernatremia syndrome was made and he was managed with a water-drinking schedule that corrected his hypernatremia.

Conclusion

Hypodipsia should always be considered when a patient without physical or cognitive disability presents with unexplained episodic hypernatremia or with relative polycythemia.

     

Giant cutaneous horn in an African woman: a case report

Introduction

A cutaneous horn is a conical projection of hyperkeratotic epidermis. Though grossly resembling an animal horn, it lacks a bony core. These lesions have been well described in Caucasian patients, as well as in a number of Arabic and Asian patients.

Case presentation

A young female presented with a large 'horn' of five-year duration, arising from a burn scar. Excision and scalp reconstruction were performed. Histology was reported as verrucoid epidermal hyperplasia with cutaneous horn.

Conclusion

This may be the first documentation of this lesion in a black African. Although likely rare, it should be considered in the differential diagnosis of dermatologic lesions. Up to 40% of cutaneous horns occur as part of a premalignant or malignant lesion, and surgical extirpation with histological examination is thus more important than the curiosity surrounding these lesions.

     

Congenital myasthenic syndrome: a case report

Summary: Congenital myasthenic syndromes (CMS) are diseases of the neuromuscular junction. They usually belong to the disease groups that begin in the infantile or childhood period and carry genetic characteristics. The following is important in establishing the diagnosis of this disease: clinical findings, electromyography, genetic tests, determination of serum acetylcholine receptor antibodies. Acetylcholine esterase inhibitor drugs are used in treatment of CMS. A seven-month old male patient was brought to our department with the complaints of difficult breathing, falling of the eyelids and swallowing difficulty. With clinical and laboratory findings, he was diagnosed with congenital myasthenia and treatment was started. CMS should be suspected in patients with no pathological findings on the physical examination, and normal chest X-rays.     

Pre-Cushing's syndrome: a case report.

A 67-year-old man affected by prostate cancer was incidentally found to have a nodular enlargement of the left adrenal gland without apparent changes in hormonal status. The adrenal mass was found to be scintigraphically active, the radiolabelled compound being concentrated in its context with a consensual suppression of the contralateral uptake. The patient underwent a resection of the adrenal tumor. Histologically and biochemically, the adrenal mass was found to be a non-functioning adenoma. The radioisotopic uptake along with the non-hormonal activity prompted us to call this tumor "Pre-Cushing's syndrome" of the adrenal cortex.     

Drug-induced long-QT syndrome: a case report

An elderly psychiatric female patient with a long-lasting severe resistant depression was referred for medical examination because of gastrointestinal complaints. The ECG revealed a strongly extended QT interval. No other cardiological abnormalities were observed. The patient''s symptoms as well as the QT interval and biochemical abnormalities could be reduced by changing psychiatric drug treatment and reduction of concomitant medication.     

Acro-cardio-facial syndrome associated with neuroepithelial cyst: a case report

Acro-cardio-facial syndrome (ACFS) is a very rare genetic syndrome. Only 5 patients have been reported in the literature so far. A female neonate presented with limb abnormalities, cleft palate and congenital heart disease was diagnosed as ACFS. Her cranial magnetic resonance imaging revealed a huge cerebral neuroepithelial cyst. To our knowledge, this is the first case of ACFS in the literature associated with a neuroepithelial cyst in the brain.     

Increased urinary excretion of bile alcohol glucuronides in patients with primary biliary cirrhosis

The bile alcohol glucuronides in urine of 12 patients with primary biliary cirrhosis (PBC), 10 patients with chronic active hepatitis (CAH), and 6 healthy volunteers were analyzed by capillary gas-liquid chromatography-mass spectrometry. In all subjects studied, the major urinary bile alcohol was found to be 27-nor-5 beta-cholestane-3 alpha,7 alpha,12 alpha,24,25-pentol (C26 pentol). In PBC patients, the excretion of C26 pentol (main isomer) was significantly increased above values observed in healthy volunteers (mean +/- SD = 5.2 +/- 3.5 mumol/24 h, range 1.0-13.4; versus 0.6 +/- 0.3, range 0.4-1.0). In addition, PBC patients excreted increased amounts of other bile alcohols such as isomers of C26 pentol, pentahydroxylated C27 bile alcohols (5 beta-cholestane-3 alpha,7 alpha,12 alpha,24,25-pentol) and 5 beta-cholestane-3 alpha,7 alpha,12 alpha,25,26-pentol) and a hexahydroxylated C26 bile alcohol (27-nor-5 beta-cholestane-3 alpha,7 alpha,12 alpha,24,25,26-hexol). In CAH patients, the excretion of the C26 pentol main isomer ranged from 0.3 to 2.0 mumol/24 h (mean +/- SD = 0.7 +/- 0.5) and did not significantly differ from that in healthy volunteers. Moreover, the bile alcohol profile was comparable to those found in healthy volunteers and PBC patients. These findings show that total urinary bile alcohol glucuronide excretion is significantly increased in primary biliary cirrhosis. A PBC-specific urinary bile alcohol profile, however, does not exist.