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PubMed1999

A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy.

OBJECTIVE: To identify the mutation in a human transforming growth factor beta-induced gene (BIGH3) in a Japanese family with a severe form of granular corneal dystrophy of early onset associated with recurrent corneal erosions. PATIENTS: The tentative clinical diagnosis in this family was Reis-Bücklers corneal dystrophy; 4 persons affected with this disorder have been identified in 4 generations, and 3 of the 4 were examined. The proband underwent keratoplasties in our hospital (Keio University Hospital, Tokyo, Japan). METHODS: The BIGH3 gene was examined for a mutation by the polymerase chain reaction and direct sequencing. Corneal buttons of the proband were stained and examined by electron microscopy. RESULTS: Three affected persons were shown to have a heterozygous G-->T transversion at the second nucleotide position of codon 124 (Arg-->Leu) of the BIGH3 gene. In the proband, corneal deposits between the epithelium and the Bowman layer stained red with Masson trichrome stain. Electron microscopy revealed numerous electron-dense, rod-shaped bodies next to the epithelial basement membrane but no curly fibers suggestive of Thiel-Behnke dystrophy. CONCLUSION: A novel R124L mutation of the BIGH3 gene was associated in this family with a superficial variant of granular corneal dystrophy. CLINICAL RELEVANCE: This mutation causes a severe form of superficial granular corneal dystrophy by producing abnormal keratoepithelin between the epithelium and the Bowman layer and thus clinical similarities to Reis-Bücklers corneal dystrophy.

Adult↗

PubMed1986

Glycogen-rich clear cell carcinoma in the tongue. A cytochemical and ultrastructural study.

An unusual epithelial neoplasm arising in the tongue of a 17 month-old-boy was studied by light and electron microscopy. By routine light microscopic examination, the tumor cells exhibited clear cytoplasm. Histochemical studies revealed the presence of large amounts of periodic acid-Schiff (PAS)-positive, diastase-labile material in the cytoplasm. Ultrastructurally, this material was identified as electron dense particles (20-35 nm diameter) of beta-glycogen. The epithelial nature of the tumor cells was suggested by the presence of intercellular junctions, segments of basal lamina, and well-developed Golgi complexes. Furthermore, the cells were often clustered and formed abnormal lumina with small microvillus projections. Several histologic features, such as lack of capsule, infiltration of muscle and invasion of blood vessel, indicated that this neoplasm was malignant. However, there was no recurrence or distant metastases more than 2.5 years after surgical excision, suggesting a low-grade malignancy. The glycogen-rich clear cell variant of adenocarcinoma is histogenetically derived from minor salivary glands like most of the glandular neoplasms in the oral cavity. Investigation of the literature on adult and childhood minor salivary gland neoplasms revealed that the glycogen-rich, clear-cell variant of adenocarcinoma has not previously been reported in the tongue.

Adenocarcinoma↗

PubMed1990

Rhabdomyosarcoma with heterologous cartilage of the uterine cervix: a clinicopathologic and immunohistochemical study of an aggressive neoplasm in a young female.

This report concerns a 20-year-old female who had a F.I.G.O. stage I rhabdomyosarcoma (sarcoma botryoides) of the cervix with a predominant embryonal pattern and heterologous cartilage that pursued an aggressive course despite surgery and chemotherapy. The patient had a pelvic recurrence, developed pulmonary metastases 15 months after diagnosis, and died 6 months later. Despite some previously published favorable prognostic assessments about this unique variant of cervical rhabdomyosarcoma, our limited experience would interject a note of caution, especially in the presence of a focal alveolar pattern and invasion of lymphatics in the cervix.

Adult↗

PubMed1995

[Revised WHO classification and new developments in diagnosis of central nervous system tumors].

In recent years there has been considerable progress in brain tumor neuropathology. Several new diagnostic entities have been recognized, subclassification schemes have been modified, and new concepts on the histogenesis and cell biology of brain tumors have emerged. In 1993, a revised WHO classification of brain tumors was published by an international committee. This article summarizes the pertinent new aspects. As novel tumor entities, the central neurocytoma, the dysembryoplastic neuroepithelial tumor (DNT), desmoplastic infantile ganglioglioma (DIG) and pleomorphic xanthoastrocytoma (PXA) have been included. Several histopathological variants of meningiomas have been added of which only the papillary meningioma and the atypical meningioma are characterized by an increased rate of recurrence. Meningeal hemangiopericytomas and hemangioblastomas are classified as tumors of non-meningothelial origin. The glioblastoma multiforme, which had previously been listed as an embryonal tumor, is now recognized as an astrocytic glioma. Immunohistochemistry has greatly advanced the practical diagnosis and classification of brain tumors. There are specific markers for all normal and neoplastic cell types except for oligodendroglioma cells. The prognosis of and therapeutic approaches to brain tumors greatly depend on histopathological grading. The WHO proposes four tumor grades, i.e., I, II, III, and IV. As a rule, grades I and II tumors are viewed as benign or semi-benign neoplasms and grades III and IV tumors as malignant. There are attempts to use new biological parameters for the grading of brain tumors. Antibodies to proliferation-associated proteins reflect tumor growth. Molecular genetic approaches to tumor-associated genes and gene loci are particularly promising new tools for the future.

Biomarkers, Tumor↗

PubMed2006

[Disseminated granuloma annulare located on photoexposed areas].

Granuloma annulare is a benign dermatosis of unknown etiology and chronic course, with different clinical variants. The disseminated form predominantly affects the extremities, sparing the trunk. We present the case of a 52-year-old woman with recurrent and autolimited outbreaks of disseminated granuloma annulare that began at summer time and involved the legs, arms and the dorsal area of hands. No pathological findings were observed in the laboratory studies performed. Histopathological examination confirmed our clinical suspicion. The development of granuloma annulare in photoexposed areas and sun exposure as a precipitating factor have been rarely reported in the literature.

Female↗

PubMedDate not supplied

Heteromorphism 18ph+ : with or without reproductive consequences?

Heteromorphism or chromosomal variants are usually attributed to structural variations in constitutive heterochromatin. In the case of chromosome 18, 25 cases of 18ph+ have been reported to date. Using the Primed In Situ Labelling technique (PRINS) to study 2 new cases of 18ph+, we have been able to confirm their molecular nature and assuming a mechanism of formation. Although such chromosomal variants are usually thought to have no adverse clinical consequence, a review of the literature shows that many cases were diagnosed because of recurrent abortion, malformed or mentally retarded children suggesting the possible relationship between 18ph+ and such clinical outcomes.

Amniotic Fluid↗

PubMed1988

Headaches in childhood.

Childhood headache is a common problem. The approach to evaluation and therapy is similar to that in adults with the exception that the differential is slightly altered and varies by age. Methods of evaluation have been proposed based on the time course of the illness as well as on pathophysiologic considerations. Although serious intracranial disease needs to be ruled out, in most cases chronic recurrent headache of childhood represents migraine. When doubt exists, close follow-up for 4 to 6 months should clarify the issue. Migraine variants are described that are uncommon or not seen in adults, and their differential diagnosis is discussed. The most difficult differential is between that of migraine and seizures. Variations in history and associated findings are described to help in the diagnosis of seizure versus migraine. Finally, methods of treatment are given based on my experience and review of the current literature. Many patients with migraine will improve over time regardless of what is done, and this should be kept in mind when treating these patients.

Child↗

PubMedDate not supplied

Orbital tuberculosis manifesting with enophthalmos and causing a diagnostic dilemma.

A 60-year-old woman with no known systemic disease was referred with a hard mass in the left orbit and enophthalmos of two months duration. Differential diagnoses of metastasis from an undetected scirrhous carcinoma and sclerosing nonspecific orbital inflammatory disease were considered and a biopsy was performed. Histopathology demonstrated granulomatous inflammation with fibrosis. Subsequent polymerase chain reaction was positive for Mycobacterium tuberculosis deoxyribonucleic acid. There was no evidence of systemic tuberculosis. The patient was treated with four-drug combination anti-tubercular therapy for 6 months. The mass regressed and there was no local recurrence at two years follow-up. Orbital tuberculosis generally manifests with proptosis or osteomyelitis. However, enophthalmos may be caused by the fibrosing variant. Biopsy with histopathologic and microbioloic evaluation is essential to distinguish it from other more common causes of an orbital mass with paradoxical enophthalmos such as metastatic scirrhous carcinoma and sclerosing nonspecific orbital inflammatory disease.

Aged↗

PubMed1990

Solitary Langerhans cell histiocytoma: an unusual form of Hashimoto-Pritzker histiocytosis?

A 2-month-old girl acutely developed a brownish, firm nodule on the left thigh. The lesion was surgically removed when the patient was age 3 months, and histology showed a massive dermal infiltration by large histiocytic cells with abundant ground glass cytoplasm. Most cells were S100 protein positive. Electron microscopic examination revealed the presence of Birbeck granules in about 30% of the histiocytes, as well as laminated dense bodies and wormlike bodies. No recurrence was observed during follow-up for three years. We believe that this case, like the one previously reported, represents a clinical variant of Hashimoto-Pritzker disease.

Diagnosis, Differential↗

PubMed2005

[Epidemiological and clinicopathological study of thyroid cancer in east Madrid].

OBJECTIVES: To analyze the incidence, clinical and histopathological manifestations, surgical complications, and prognostic factors of thyroid cancer in the east Madrid population. PATIENTS AND METHODS: Retrospective analysis of 141 consecutive diagnosed of thyroid cancer in our area between 1985 and 2001. Median follow-up was 4,5 years. RESULTS: The annual incidence rate was 4.74/100,000 inhabitants and the female:male proportion 3.5:1. The average age of patients at diagnosis was 44.5 years and nodular goiter was the principal type of clinical presentation (74.5%). The most frequent histological variant was papillary thyroid carcinoma (69%). Total thyroidectomy was carried out in 86% patients. 9.6% patients suffered permanent hypoparathyroidism and 3.3% paralysis of recurrent laryngeal nerve. Radioactive iodine ablation of remaining thyroid was carried out in 91 patients. Residual disease or local recurrence was observed on follow-up in 21% of patients, and metastasis at a distant site in 9%. 7.9% died along follow-up. The principal prognostic factors for metastasis or death were age, histological type, tumor size, local invasion and existence of metastasis at the time of diagnosis. CONCLUSIONS: The incidence of thyroid cancer in our population was high, especially in women. Although the proportion of postsurgical complications was elevated, global prognosis is good and some factors related to it have been identified. Increase of thyroglobulin plasma level at follow-up is a good recurrence indicator of the disease, especially with regard to distant metastases.

Adult↗

PubMed1980

Giant cell tumors of the spine: a clinical study of six cases, with emphasis on the radiological features, treatment, and follow-up.

Six cases of giant cell tumor of the spine are reported. Based on cases reported in the literature and on their personal experience, the authors stress the difficulty of making a proper differential diagnosis between giant cell tumor and other giant cell variants (i.e., aneurysmal bone cyst and benign osteoblastoma) on the basis of the clinicoradiological findings alone. It is pointed out that the disappointing recurrence rate of about 50% for giant cell tumors in ordinary locations (such as the long bones) and in the sacrum is remarkably decreased when these tumors involve the movable part of the vertebral column; giant cell tumors above the level of the sacrum have a better prognosis. (Neurosurgery, 6: 29--34, 1980)]

Adolescent↗

PubMed2000

Peripheral clear cell calcifying epithelial odontogenic tumor. Report of a case.

Calcifying epithelial odontogenic tumor (CEOT) is an uncommon, locally aggressive odontogenic tumor representing less than 1% of all odontogenic tumors. Clear cells have been described in CEOT, ameloblastomas, calcifying odontogenic cysts, lateral periodontal, and gingival cysts. It is not yet clear if the clear cell variants of the odontogenic tumors have a different biologic behavior, even if it seems that these tumors are more aggressive with an higher recurrence rate. The authors present a case of a peripheral clear cell CEOT (CCCEOT). It is a rare lesion with only 9 cases reported in the literature. The lesion was removed by excision and no recurrence was found after a 4-year follow-up.

Adult↗

PubMed1990

[Flow cytometry in the evaluation of the prognosis and course of malignant soft-tissue tumors].

Investigation of DNA content by flow cytometry method (determination of ploidy and cell proliferation activity) carried out in 45 patients with malignant and 19 patients with benign tumours revealed diploid distribution of DNA in 18 cases and aneuploid in one case of benign tumours. DNA distribution in malignant tumours was diploid in 23 cases (51.1%) and aneuploid in 22 regardless of histological variant of the tumour. Diploid cells were always present in the aneuploid tumours and their number was higher in primary tumours than in recurrent tumours (only tumour cells were found in the cytological control smears). No full correlation is observed between indices of cell proliferation activity obtained by morphological and cytometric methods. Ploidy and proliferation activity (number of cells in S-phase of cell cycle) are prognostic criteria of the survival and duration of disease without recurrence.

DNA, Neoplasm↗

PubMed1987

[Dosimetric basis for joining large fields of complex configuration during total irradiation of the lymphatic collecting vessels].

The paper is concerned with the results of experimental dosimetric studies on an anthropomorphic phantom using thermoluminescent dosimetry at the site of the joining of large fields of complex shape simulating total irradiation of the lymphatic collectors. The studies demonstrated the appropriateness of the joining at a distance of 1 cm between the fields. In such a variant adequate irradiation of the lymphatic system was achieved whereas an increase in a distance between the fields resulted in a risk of recurrence in under-irradiated areas without a significant decrease in radiation dose exposure to healthy organs and tissues.

Humans↗

PubMed1994

[Staged treatment and follow-up of patients with yersinia infections].

Basing on the data obtained on immunopathogenetic and lipid metabolism features of intestinal yersiniosis and pseudotuberculosis in children, the authors offer variants of etiotropic and pathogenetic treatment specific for certain stages of the above diseases which are able to reduce the rate of aggravations, recurrences and complications by 10-12%. Long-term follow-up showed that unfavourable outcomes of yersiniosis are not infrequent this urging the necessity of 6-12-month follow-up of the convalescents.

Anti-Bacterial Agents↗

PubMed1993

[Diffuse sclerosing papillary carcinoma of the thyroid. Report of a case].

The authors report the case of a 12-year-old girl presenting with a diffuse sclerosing papillary carcinoma of the thyroid. The diagnosis was made on a total thyroidectomy specimen three months after thyroid enlargement was detected. This child had previously been treated medically for thyroiditis because of an enlarged thyroid gland with serum antithyroid autoantibodies. A few cases have been described in the literature. Six morphologic findings define this variant of papillary carcinoma: a diffuse growth pattern involving one or both lobes of the thyroid, prominent fibrosis, heavy lymphocytic infiltration with germinal centers, large numbers of psammoma bodies, squamous metaplasia and papillae within cleft-like tissue spaces. Some authors stated that this variant has a poorer prognosis than the usual papillary carcinoma of the thyroid. However, in some series a few patients survive without local recurrence or distant metastasis at a mean follow-up period of more than 10 years. Immunohistochemical studies have shown high accumulation of S-100 protein positive dendritic cells. Such an infiltration has been correlated with a better prognosis.

Carcinoma, Papillary↗

PubMed1993

[Choice of bile-diverting operations in neoplastic obstruction of the distal common bile duct].

Analysis of clinical material of 206 patients with tumor obstruction of the distal part of the common bile duct allowed the conclusion to be made on the expediency of applying endoscopic methods for jaundice correction as the first stage in preparation for the operation (122 patients) and also as the only and final operation (70 patients). Study of the immediate and late-term results of different variants of operations for bile diversion in obstruction of the distal choledochus (203 operations) showed the superiority of the Roux hepaticoejunoanastomosis in which recurrent jaundice due to obstruction of the cystic duct does not occur, as is encountered in creation of a cholecystoejunoanastomosis, and there are no conditions for the development of ascending cholangitis.

Adult↗

PubMed1998

Current management of thyroid-associated ophthalmopathy in Europe. Results of an international survey.

OBJECTIVE: To determine how expert thyroidologists assess and treat thyroid-associated ophthalmopathy (TAO), and if TAO affects treatment of coexistent Graves' hyperthyroidism. DESIGN: Members of the European Thyroid Association (ETA) were invited to answer a questionnaire which gave details of an index patient and nine variants differing in age, severity of TAO, thyroid state and the presence of diabetes. Eighty-four responses were received from 19 European countries, representing approximately 60% of the clinically active ETA members. RESULTS: Disease-modifying treatment was not considered necessary by 18% for the index case with diplopia and proptosis but 77% used steroids alone or with another treatment; 5% used radiotherapy alone and 18% used it in combination with steroids. Worsening of eye signs after 8 weeks induced a significant shift away from steroids to radiotherapy, surgery, or other immunosuppression. For treatment of associated hyperthyroidism, antithyroid drugs were chosen by 84%, thyroidectomy by 10% and radioiodine by 6%. In recurrent hyperthyroidism, thyroidectomy was preferred by 43%, antithyroid drugs by 32%, and radioiodine by 25%. Major alterations in management of TAO were noted for only 2 of the 9 variants. Optic nerve involvement produced a more thorough evaluation of TAO as an in-patient, and a preference for surgical decompression (42%). The presence of diabetes induced a greater use of surgery at the expense of steroids, but there was disagreement over the role of radiotherapy in diabetes. CONCLUSION: Marked geographical variation was noted, particularly in the treatment of thyroid-associated ophthalmopathy. Observed consensus was nation-wide rather than Europe-wide. The appropriate treatment of the patient with thyroid-associated ophthalmopathy, especially with diabetes or deteriorating eye signs, is controversial even amongst thyroid specialists.

Antithyroid Agents↗