Unfortunate in vitro selection of resistant Candida albicans with severe clinical consequences

Cutaneous angiosarcoma is a rare aggressive tumour of capillary and lymphatic endothelial cell origin. It presents as multiple purple and red papules and nodules on the head and neck or the extremities. We report an 86-year-old woman with angiosarcoma arising on her chronically lymphoedematous right leg. The lymphoedema, secondary to chronic immobility, had developed gradually over 40 years. No other family members had lymphoedema. The patient presented with a plaque of friable tumour tissue on the lower right leg and dorsum of the foot, and satellite lesions on the knee and groin which initially appeared to be petechial haemorrhages. The satellite lesions in the groin grew into tumour nodules. There was no evidence of a preceding malignancy, nor any operative intervention to the affected limb or abdomen. Histological examination of all tumour specimens revealed moderately to poorly differentiated angiosarcoma. She died within 5 months of the first appearance of the skin nodules.     

Posttraumatic syringomyelia. A report of an atypical case

Isolated congenital lymphoedema of the external genitalia in boys is extremely rare. It can have major physical and emotional consequences for the children. Three male patients with primary lymphoedema of the penis and scrotum are described. The first case presented with lymphoedema of the prepuce and the phallic skin that persisted after the age of 1 year. Circumcision and excision of the subcutaneous tissues of the phallic skin were successful in producing the appearance of a normal circumcised penis. The second case presented with oedema of both phallic and scrotal skin. At age 1 year only a pastous thickening of the prepuce remained, scrotal and phallic skin normalised spontaneously. Routine circumcision was successful with a 5-year follow up. The third case presented with persistent oedema of both the scrotum and the phallus. He suffered leakage of lymph requiring incontinence pads, with complicating skin infections recurring every 4-6 weeks at age 8 years. After complete peeling of the scrotal and phallic skin from subcutaneous tissue some leakage persisted, infections subsided. The cause of this disorder remains unknown, although hypoplasia of the lymphatic vessels is reported in most cases. In the literature, several congenital malformations have been associated with primary lymphoedema. These were not noted in our patients. Rarely, the lymphoedema regresses spontaneously. The treatment of persistent lymphoedema is surgical and consists of meticulous excision of all subcutaneous layers of the affected skin, combined with reconstruction of the penis and/or scrotum. CONCLUSION: Primary lymphoedema of the male external genitalia is an extremely rare malformation of the lymphatic vessels of unknown origin. If persistent, surgical treatment is necessary.     

Lymphangiosarcoma of the pubic region: a rare complication arising in congenital non-hereditary lymphedema

Lymphangiosarcoma is a rare, aggressive, vascular neoplasm arising in chronic congenital or acquired lymphedema. Although it is most frequently associated with post-mastectomy lymphedema (Stewart-Treves's syndrome), lymphangiosarcoma can exceptionally arise in congenital hereditary lymphedema (Milroy's syndrome and Meige's syndrome) and non-hereditary lymphedema (congenital, praecox or forme tarde lymphedemas). We report a case of lymphangiosarcoma of the pubic region, supported by immunohistochemical studies, in a 42-year-old woman affected by congenital, non-hereditary lymphedema of the left genital region and homolateral lower limb. In addition, molecular analysis demonstrated the absence of Kaposi's sarcoma-associated Herpes virus (KSHV) DNA sequences in tumour lesions. To our knowledge, this is the first case of lymphangiosarcoma associated with congenital non-hereditary lymphedema confined to the pubic region. The literature concerning the cases of lymphangiosarcoma arising in congenital hereditary and non-hereditary lymphedema is reviewed. Moreover, we emphasized the importance of regular clinical controls in all patients affected by chronic lymphedema. In fact, although the prognosis of this neoplasm is very poor, a prompt diagnosis and a rapid, ablative surgery associated with radiation therapy can increase the possibility of survival of these patients.     

Lymphedemas of the lower limbs: a lymphoscintigraphic study

Patients with lymphoedema of the lower limbs (LLL) are usually affected by recurrent erysipelas. This bacterial infection is usually admitted as an aetiological factor, but it can be a consequence of some previous lymphatic abnormality. Classically, the commonest causative factors of LLL are bacterial infection, venous ulcers, trauma (leading to secondary lymphoedema) and congenital disorders of the lymphatic system (primary lymphoedema--praecox or tarda). PURPOSE: To identify previous lymphatics abnormalities in patients with LLL, admitted as having secondary lymphatic lymphoedema--as consequences of infection, trauma or other factors--, by using lymphoscintigraphic method. To observe advantages of this approach in practical assistance and evaluation of LLL cases. METHODS: Twelve patients with LLL, supposed to have primary (congenital) or secondary disorder affecting one or both lower extremities were submitted to lymphoscintigraphy at the Escola Paulista de Medicina of Sao Paulo, Brazil. Each patient received an intradermal injection of labelled Dextran (Dx-99mTc) at the first interdigital space of each foot and, after one to three hours, images of lower extremities, pelvic and abdominal areas were obtained with Gammatome CGR. RESULTS: Examination of all 24 lower extremities disclosed clinical diagnosis of lymphoedema in 17 (70.8%), being five (41.6%) with clinical signs of lymphoedema of both lower limbs and seven (58.3%) of a single one. The lymphoscintigraphic images revealed lymphatic disorders in 22 of the 24 extremities (91.7%). Lymphoscintigraphic abnormalities in clinically normal lower extremities were observed in five cases (41.3%). CONCLUSION: Lymphoscintigraphy is a non-invasive useful method to study LLL, with involvement of one or both limbs. It does not differentiate between primary and secondary lymphoedema, but makes possible to detect cases of normal appearance of the limbs with previous lymphatic defect(s), changing aetiological diagnosis. Some cases that appear to be secondary lymphoedema could be, in fact, associated with congenital abnormality(ies) of lymphatics, triggered by factors like trauma or venous ulcers.     

Waldman's disease. Primary intestinal lymphangiectasis

INTRODUCTION: Primary intestinal lymphangiectasias are often associated with lymphoedema. OBSERVATION: The diagnosis was performed at 4 months when Maxime presented with lymphoedema, diarrhea, hypoprotidemia and hypolipemia. Duodenum biopsies revealed intestinal lymphangiectasias. An hyperprotidic and low fat diet, medium chain triglyceride-supplemented and an elastic contention allowed a decline of the oedemas. DISCUSSION: We report one case of Waldman's disease. It shows very well the typical circumstances of diagnosis in this disease and the two types of oedema (lymphoedema and hypoprotidic oedema).     

Autosomal recessive hydrocephalus with aqueductal stenosis

We report the case histories of three sisters with congenital hydrocephalus associated with stenosis of the cerebral aqueduct. The parents were a young consanguineous couple. In two cases hydrocephalus was detected before birth by ultrasonography. We consider these three cases to be of the rare autosomal form of hereditary hydrocephalus.     

Ectodermal dysplasia: a review and case report

Ectodermal dysplasia is a hereditary disease characterized by a congenital dysplasia of one or more ectodermal structures and their accessory appendages. Common manifestations include defective hair follicles and eyebrows, frontal bossing with prominent supraorbital ridges, nasal bridge depression, and protuberant lips. Intraorally, common findings are anodontia or hypodontia, conical teeth, and, consequently, generalized spacing. The patient may suffer from dry skin, hyperthermia, and unexplained high fever as a result of the deficiency of sweat glands. The present review focuses on the clinical manifestations, classifications, and diagnosis of ectodermal dysplasia. A 6-year-old girl, described in the case report, exhibited many of the manifestations of ectodermal dysplasia as well as behavioral problems and a severe gag reflex. The treatment to improve her appearance and oral function included a removable prosthesis, acid-etch-retained indirect resin composite veneers, and a fixed partial denture.     

The Sebastian platelet syndrome. Report of the first native Saudi Arabian patient

Sebastian platelet syndrome is an hereditary thrombocytopenia with giant platelets and inclusion bodies in the granulocytes consisting of dispersed filaments, clusters of ribosomes and a few segments of rough and smooth endoplasmic reticulum at the ultrastructural level, similar to those observed in Fechtner syndrome (a variant of the Alport syndrome)--Sebastian platelet syndrome lacks the additional clinical features such as high frequency deafness, congenital cataract, and chronic interstitial nephritis. Here we report the fourth case worldwide and the first of an Arabian ancestry.     

Hereditary congenital alacrima

We describe a family with markedly deficient lacrimation from infancy and punctate corneal epithelial erosions. An autosomal dominant inheritance pattern is suggested. A hypoplasia of the lacrimal gland in this family was suggested by pharmacologic testing and by histopathologic examination of the lacrimal gland of the proposita. The family investigated in this report represents the first instance of hereditary congenital alacrima without associated ocular or adnexal abnormalities and apart from systemic disorders such as the Riley-Day syndrome and anhidrotic ectodermal dysplasia.     

Bacterial epidemiology of chronic otitis. Prophylactic and therapeutic deductions

The early onset sensory motor hereditary neuropathy (HSMN) can be divided into two forms: the early onset type (HSMN type III or Dejerine-Sottas) and the congenital hypomyelinating neuropathy (CHN). In both cases, abnormalities of myelination are present in peripheral nerves. Symptoms include hypotonia, weakness, hypotrophy, and areflexia. Skeletal changes may be present. In CHN symptoms may be present at birth and are rapidly progressive. Many authors actually consider the two forms different. The diagnosis is based only on clinical and neuropathological criteria. Here we report a case with a typical phenotype of HSMN type III but with peripheral nerve bioptic findings suggesting a CHN.     

Juvenile polyposis coli and associated anomalies. Review of the literature and report of a case associated with hereditary spherocytosis

A case of juvenile polyposis associated with hereditary spherocytosis is presented. All the anomalies associated with juvenile polyposis coli reported in the literature are reviewed. The clinical consequences of such a report are discussed along with the different forms of therapy for treating juvenile polyposis coli. To our knowledge, this is the first report in the literature of juvenile polyposis associated with hereditary spherocytosis.     

Brain metastasis from pericardial angiosarcoma

A case of metastatic intracranial angiosarcoma in a 17-year-old female is presented. The patient underwent a sternotomy for treatment of a primary angiosarcoma arising from the pericardium. The postoperative course was uneventful but the patient died as a result of multiple metastases. The metastatic intracranial tumor had features characteristic of angiosarcoma as revealed by light microscopy with positive immunohistochemical staining of factor VIII-related antigen. Only a few cases of intracranial metastasis from cardiac angiosarcoma have been reported in the literature.     

Angiosarcomas associated with bone infarcts

OBJECTIVE: A bone infarct may occasionally dedifferentiate to osteogenic sarcoma, fibrosarcoma or malignant fibrous histiocytoma. However, the association of an angiosarcoma with a bone infarct is extremely rare. Such an association is presented in three patients. Their clinical course is compared with that of patients with bone infarcts associated with other sarcomas. DESIGN AND PATIENTS: The three patients were men with a mean age of 43 years. Cases 1 and 3 presented with a pathological fracture at the site of the angiosarcoma. Plain radiography was done in the three patients, computed tomography (CT) was performed in cases 1 and 3 and magnetic resonance imaging (MRI) in case 3. The femur was the site of the three tumors: midshaft in cases 1 and 3 and distal shaft in case 2. On the basis of the radiographic findings, and clinical examination, an open biopsy was performed for the three men, which confirmed the diagnosis of a high-grade angiosarcoma associated with a bone infarct. RESULTS: Case 1 was treated with high-above knee amputation and is still alive after 18 months from the time of operation. Segmental resection of the distal femur with adjuvant chemotherapy and local irradiation was the treatment for case 2, who is still alive with no tumor recurrence on metastatic disease 3 years from the operation. Intramedullary rodding was done for case 3 who died 6 months later. CONCLUSION: The association of an angiosarcoma with a bone infarct has been established in only five cases. Although the number of such associations is small, it seems that such an association may be prognostically more or less the same as in those cases in which a bone infarct is associated with either osteosarcoma, fibrosarcoma or malignant fibrous histiocytoma, where the survival rate is unfavorable. A cause-and-effect relationship may exist between a bone infarct and subsequent development of a bone sarcoma.     

Histopathological characteristics of chronic hepatitis C virus infection in Turkey

Pseudoangiomatous hyperplasia of the mammary stroma is a benign mesenchymal proliferative lesion. It is rarely observed as a tumor mass that has to be differentiated from angiosarcoma. We give a review of the literature and report a case unusual in that it occurred in a clinical setting of HIV infection, was rapidly growing, and has been the largest described so far.     

Familial occurrence of congenital bile duct cysts

Congenital bile duct cysts are now a well-documented anomaly of the biliary tree, and have become more common in Japan. Familial occurrence of congenital bile duct cysts, however, is extremely rare, with only six reported cases in the literature. We report a familial pattern of congenital bile duct cysts in a mother and her daughter. A 33-year-old female was admitted for evaluation of right upper quadrant abdominal pain and fever 6 days after an uneventful delivery of her second child. A computed tomography (CT) and ultrasound scan (US) revealed an obstructed biliary tract. Percutaneous transhepatic biliary drainage was then performed, and a cholangiogram revealed a Scholtz type B choledochocele without an anomalous connection of the pancreaticobiliary ducts. Endoscopic US demonstrated that the choledochocele was associated with a stone in the cyst. A pylorus-preserving pancreatoduodenal resection was performed, and a histological study revealed that the choledochocele was lined by biliary mucosa without evidence of malignancy. The newborn infant had an abdominal tumour. An US and CT revealed a congenital bile duct cyst. An operation was performed and the intraoperative cholangiogram showed an Alonso-Lej type I congenital bile duct cyst with an anomalous connection of the pancreaticobiliary ducts. Whether congenital bile duct cysts are hereditary remains to be elucidated.     

Cardiomyoplasty combined with implantation of a cardioverter defibrillator

Congenital absence of the scaphoid without associated thumb or radial hypoplasia is a rare condition. This report is the third case presented in the literature of this condition. The case presented is of a patient who presented initially with wrist pain. Radiographs revealed a congenitally absent scaphoid and examination revealed no evidence of thumb hypoplasia. A brief review of the literature on congenital absence of the scaphoid is discussed.     

Cytologic findings in the sarcomatoid variant of large cell anaplastic (Ki-1) lymphoma. A case report

Anaplastic large cell (Ki-1) lymphomas are a recently described subtype of non-Hodgkin's lymphoma. A single case of the sarcomatoid variant has recently been reported. Below we report the fine needle aspiration findings in an additional case of the sarcomatoid variant of Ki-1 lymphoma. The diagnosis was made only in retrospect with the aid of immunostains because the cytologic findings were more in keeping with a sarcoma. Striking vascular structures in the smears suggested angiosarcoma or liposarcoma. Additional features were pleomorphic cells with eccentric nuclei and abundant, tapering cytoplasm; spindle cells; multinucleation; cytoplasmic vacuolization; and prominent nucleoli. The smear pattern was composed of dispersed cells with some cohesive groups within an acute inflammatory background with a virtual absence of lymphoglandular bodies. These findings, atypical of lymphoma, broaden the spectrum of possible cytologic findings in lymphoid malignancies and highlight the possible utility of immunostaining. The distinction of lymphoma from sarcoma or carcinoma is of therapeutic importance.     

A 6p22 reference map of leukocyte DNA: exclusion of rearrangement in four cases of atypical haemochromatosis

Primary angiosarcomas of the chest wall and pleura are extremely rare and carry a dismal prognosis. Two cases are reported. One patient (case 1), presented with massive recurrent haemothorax, was found to have multifocal angiosarcoma of the pleura, treated with surgical de-bulking, chemical pleurodesis and chemotherapy, achieving control of the bleeding. She died 10 months later from complications related to chemotherapy. A full post-mortem examination confirmed this was a primary pleural angiosarcoma with no evidence of disease elsewhere. Another patient (case 2) with a large solitary angiosarcoma of the chest wall, discovered incidentally on a routine physical examination, was successfully treated with surgical excision and subsequent radical radiotherapy, remaining well 15 years post-operatively.     

Cutaneous epithelioid angiosarcoma: a potential diagnostic trap for cytopathologists

We report on the cytologic features of a rare case of cutaneous epithelioid angiosarcoma of the scalp occurring in a 65-yr-old Chinese male. The prominent epithelioid features may cytologically mimic poorly-differentiated carcinoma, malignant melanoma, and even epithelioid sarcoma. Recognition of subtle cytologic features of vasoproliferation, immunohistochemical demonstration of endothelial markers, and ultrastructural examination are necessary before a final conclusion may be drawn.     

Two new cases of liver angiosarcoma: history and perspectives of liver angiosarcoma among plastic industry workers

In this report of two new cases of liver angiosarcoma (ASL) among plastic industry workers, the authors present the history and perspectives of this problem. The first cases of ASL have been registered since 1974, and in 1984, the European register of angiosarcoma was founded. In this register, 11 cases of ASL and one case of haemangiopericytoma have been registered from Croatia, all from a single plastics plant near Split. Two new cases of ASL (in retired autoclave cleaners, who were exposed to a concentration of 500-1000 ppm vinyl chloride monomer (VCM) during the working process) in the same plant are represented. They were detected with combined techniques of ASL detection, and both are still alive. The diagnoses have been histologically confirmed: one of them was surgically treated with segmental liver resection. The appearance of new cases of ASL confirms the perspective presented in the last report by the same authors.