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Sample records for carcinoma syndrome gorlin

  1. Metastatic Basal Cell Carcinoma Accompanying Gorlin Syndrome

    OpenAIRE

    Yeliz Bilir; Erkan Gokce; Banu Ozturk; Faik Alev Deresoy; Ruken Yuksekkaya; Emel Yaman

    2014-01-01

    Gorlin-Goltz syndrome or basal cell nevus syndrome is an autosomal dominant syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification. Basal cell carcinoma is the most commonly skin tumor with slow clinical course and low metastatic potential. Its concomitance with Gorlin syndrome, resulting from a mutation in a tumor suppressor gene, may substantially change morbidity...

  2. Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

    OpenAIRE

    Lo Muzio Lorenzo

    2008-01-01

    Abstract Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic ...

  3. Nevoid basal cell carcinoma syndrome (Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Lo Muzio Lorenzo

    2008-11-01

    Full Text Available Abstract Nevoid basal cell carcinoma syndrome (NBCCS, also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs, odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies. Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling. Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome. Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser

  4. Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome

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    N K Kiran

    2012-01-01

    Full Text Available The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS, is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by odontogenic keratocysts in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the odontogenic keratocysts are usually one of the first manifestations of the syndrome. This case report presents a patient diagnosed as NBCCS by clinical, radiographic and histological findings in a 13-year-old boy. This paper highlights the importance of early diagnosis of NBCCS which can help in preventive multidisciplinary approach to provide a better prognosis for the patient.

  5. Gorlin-Goltz syndrome

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    Jawa Deepti

    2009-01-01

    Full Text Available Gorlin-Goltz syndrome is an autosomal dominant inherited disorder characterized by the presence of multiple odontogenic keratocysts along with various cutaneous, dental, osseous, ophthalmic, neurological, and sex organ abnormalities. Early diagnosis is essential as it may progress to aggressive basal cell carcinomas and neoplasias. Gorlin-Goltz syndrome has rarely been reported from India. We report here one such patient, diagnosed at a rural hospital.

  6. Genetics Home Reference: Gorlin syndrome

    Science.gov (United States)

    ... Syndrome Life Support Network Gorlin Syndrome Group National Organization for Rare Disorders (NORD) GeneReviews (1 link) Nevoid Basal Cell Carcinoma Syndrome Genetic Testing Registry (1 link) Gorlin syndrome Scientific articles on PubMed (1 link) PubMed OMIM (1 link) ...

  7. Basal Cell Carcinomas in Gorlin Syndrome: A Review of 202 Patients

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    Elizabeth A. Jones

    2011-01-01

    Full Text Available Gorlin syndrome (Naevoid Basal Cell Carcinoma Syndrome is a rare autosomal dominant syndrome caused by mutations in the PTCH gene with a birth incidence of approximately 1 in 19,000. Patients develop multiple basal cell carcinomas of the skin frequently in early life and also have a predisposition to additional malignancies such as medulloblastoma. Gorlin Syndrome patients also have developmental defects such as bifid ribs and other complications such as jaw keratocysts. We studied the incidence and frequency of basal cell carcinomas in 202 Gorlin syndrome patients from 62 families and compared this to their gender and mutation type. Our data suggests that the incidence of basal cell carcinomas is equal between males and females and the mutation type cannot be used to predict disease burden.

  8. Gorlin syndrome: A case report

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    Patil K

    2005-01-01

    Full Text Available Gorlin syndrome is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. It is characterized mainly by Basal cell carcinomas, Odontogenic keratocysts and skeletal anomalies. However, medical literature documents both common and lesser known manifestations of the disorder involving the skin, central nervous system, skeletal system etc. Diagnosis of the syndrome in childhood is basically through oral abnormalities. A case of Gorlin syndrome has been reported here, with review of literature.

  9. Gorlin syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Abbas Darjani

    2016-01-01

    Full Text Available Gorlin syndrome is a rare autosomal dominant disorder which characterize by multi-organ abnormities such as odontogenic keratocysts in the jaw, skeletal abnormities and multiple basal cell carcinoma etc. We report a case of this syndrome in a young man with palmar pits, multiple facial BCC, clacifications of the falx cerebri and bifid rib.

  10. Metastasis of basal cell carcinoma to lymph nodes in a patient with Gorlin syndrome - case report and literature review

    International Nuclear Information System (INIS)

    Background: Basal cell carcinoma of the skin is the most common malignant cancer worldwide. It is characterized by a low grade of malignancy and it gives very rare metastases to lymph nodes or internal organs. It is also a typical symptom of Gorlin syndrome, which is characterized by multiple basal cell carcinomas, calcifications in the central nervous system and palmar or plantar pits. Mutations in the PTCH gene are responsible for the development of this syndrome, and its inheritance is autosomal dominant. The estimated frequency of Gorlin syndrome is 1/57 000 - 256 000. Case report: The authors present a case of a 34-year-old man with Gorlin syndrome and metastasis of basal cell carcinoma of the face to the submandibular lymph node. Though there are some reports of high radiosensitivity in patients with this syndrome, in this case postoperative radiation treatment was used. Inter- and post-treatment observation did not confirm an early or late postradiation reaction higher than score 2 on the EORTC/RTOG scale. Within 20 months after the treatment no new malignant lesions of the irradiated skin were noticed. Discussion: In the literature there are fewer than 300 cases of basal cell carcinoma metastases, of which only 3 concern patients with Gorlin syndrome. On the basis of the case presented the authors suggest that early and late radiation toxicity in Gorlin syndrome patients is not as high as previously believed. (authors)

  11. Gorlin-Goltz syndrome: A rare case

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    Satyaki Ganguly

    2015-01-01

    Full Text Available Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. We describe a case of Gorlin-Goltz syndrome illustrating the importance of a thorough examination including the examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi.

  12. Síndrome de Gorlin-Goltz: manejo del carcinoma basocelular facial Gorlin-Goltz syndrome: management of facial basal cell carcinoma

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    Rocío Gilabert Rodríguez; Pedro Infante Cossío; Pablo Redondo Parejo; Eusebio Torres Carranza; Alberto García-Perla García; Domingo Sicilia Castro

    2013-01-01

    Introducción/objetivo: El síndrome de Gorlin-Goltz (SGG) es un trastorno hereditario autosómico dominante que predispone principalmente a la proliferación de tumores como los carcinomas basocelulares y queratoquistes maxilares. Está causado por la mutación del gen Patched localizado en el cromosoma 9. Los carcinomas basocelulares que aparecen en pacientes con el SGG suelen ser múltiples, de aspecto clínico polimórfico y sin predilección por el sexo, detectándose a veces a edades precoces de l...

  13. Radiological features of familial Gorlin-Goltz syndrome

    OpenAIRE

    Hegde, Shruthi; Shetty, Shishir Ram

    2012-01-01

    Gorlin-Goltz syndrome is an autosomal dominant disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocystic odontogenic tumors, and skeletal anomalies. This syndrome may be diagnosed early by dentist because keratocystic odontogenic tumors are usually one of the first manifestations of the syndrome. Early diagnosis and treatment are of utmost importance in reducing the severity of long term sequelae of this syndrome. This report presents a rare event of Gorlin-...

  14. Síndrome de Gorlin-Goltz: manejo del carcinoma basocelular facial Gorlin-Goltz syndrome: management of facial basal cell carcinoma

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    Rocío Gilabert Rodríguez

    2013-03-01

    Full Text Available Introducción/objetivo: El síndrome de Gorlin-Goltz (SGG es un trastorno hereditario autosómico dominante que predispone principalmente a la proliferación de tumores como los carcinomas basocelulares y queratoquistes maxilares. Está causado por la mutación del gen Patched localizado en el cromosoma 9. Los carcinomas basocelulares que aparecen en pacientes con el SGG suelen ser múltiples, de aspecto clínico polimórfico y sin predilección por el sexo, detectándose a veces a edades precoces de la vida y afectando incluso a zonas no expuestas a la luz solar. Muestran un comportamiento clínico variable, si bien en ocasiones pueden ser muy agresivos, sobre todo a nivel facial. Con el fin de estudiar el comportamiento de los carcinomas basocelulares en los pacientes con SGG se ha realizado un estudio de los pacientes tratados en nuestro hospital durante el periodo comprendido entre 2001 y 2011 y que cumplían criterios de la enfermedad. Material y métodos: Se incluyeron 11 pacientes con diagnóstico clínico y/o genético de SGG. Se estudió la distribución según edad y sexo, manifestaciones clínicas, características histológicas, técnica quirúrgica empleada, presencia de recidiva y evolución de los pacientes. Resultados: Un 36% de los pacientes presentaron carcinomas basocelulares en la cara. El número de tumores por paciente osciló entre 9 y 21. El tratamiento preferido fue la exéresis quirúrgica, si bien todos los pacientes desarrollaron nuevas lesiones y recidivas que requirieron varios procedimientos. El estudio histológico reveló un contacto o proximidad del tumor con los márgenes quirúrgicos en el 28% de las lesiones. Conclusiones: En la literatura no hay evidencia suficiente para determinar el tratamiento de elección entre los distintos métodos disponibles para el manejo del carcinoma basocelular en el SGG. Es necesario un enfoque preventivo evitando la exposición al sol.Introduction/objective: Gorlin Goltz

  15. Radiological features of familial Gorlin-Goltz syndrome

    International Nuclear Information System (INIS)

    Gorlin-Goltz syndrome is an autosomal dominant disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocystic odontogenic tumors, and skeletal anomalies. This syndrome may be diagnosed early by dentist because keratocystic odontogenic tumors are usually one of the first manifestations of the syndrome. Early diagnosis and treatment are of utmost importance in reducing the severity of long term sequelae of this syndrome. This report presents a rare event of Gorlin-Goltz syndrome occurring in a 39-year-old male and his 8-year-old daughter. The clinical and investigative features of this familial disorder has been described in detail.

  16. Radiological features of familial Gorlin-Goltz syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Hegde, Shruthi; Shetty, Shishir Ram [AB Shetty Memorial Institute of Dental Sciences, Nitte University, Mangalore (India)

    2012-03-15

    Gorlin-Goltz syndrome is an autosomal dominant disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocystic odontogenic tumors, and skeletal anomalies. This syndrome may be diagnosed early by dentist because keratocystic odontogenic tumors are usually one of the first manifestations of the syndrome. Early diagnosis and treatment are of utmost importance in reducing the severity of long term sequelae of this syndrome. This report presents a rare event of Gorlin-Goltz syndrome occurring in a 39-year-old male and his 8-year-old daughter. The clinical and investigative features of this familial disorder has been described in detail.

  17. Axillary basal cell carcinoma in patients with Goltz-Gorlin syndrome: report of basal cell carcinoma in both axilla of a woman with basal cell nevus syndrome and literature review

    OpenAIRE

    Cohen, Philip R.

    2014-01-01

    Background: Basal cell carcinoma of the axilla, an area that is not usually exposed to the sun, is rare. Individuals with basal cell nevus syndrome, a disorder associated with a mutation in the patch 1 (PTCH1) gene, develop numerous basal cell carcinomas.Purpose: To describe a woman with basal cell nevus syndrome who developed a pigmented basal cell carcinoma in each of her axilla and to review the features of axillary basal cell carcinoma patients with Goltz-Gorlin syndrome.Methods: Pubmed w...

  18. Manifestations of Gorlin-Goltz syndrome

    DEFF Research Database (Denmark)

    Bygum, Anette; Larsen, Anne Kristine; Mikkelsen, Dorthe Bisgaard;

    2014-01-01

    INTRODUCTION: Gorlin-Goltz syndrome is an uncommon hereditary condition caused by mutations in the PTCH1 gene causing a wide range of developmental abnormalities. Multiple basal cell carcinomas, palmoplantar pits and jaw cysts are cardinal features. Many clinicians are unfamiliar with the different......, Denmark, in the period from 1994 to 2013. RESULTS: A total of 17 patients from eight families fulfilled the diagnostic criteria. In all, 14 patients had basal cell carcinomas, 12 patients had jaw cysts and ten patients had calcification of the falx cerebri. Other clinical features were frontal bossing......, kyphoscoliosis, rib anomalies, coalitio, cleft lip/palate, eye anomalies, milia and syndactyly. In one family, medulloblastoma and astrocytoma occurred. Traditional treatment principles of basal cell carcinomas were used including radiotherapy performed in six patients. PTCH1 mutations were identified in five...

  19. Gorlin-Goltz: what's in a name?

    LENUS (Irish Health Repository)

    McNamara, T

    1998-03-01

    This paper describes the clinical features of two very distinct syndromes with similar names: Gorlin-Goltz and Goltz-Gorlin Syndromes. A case report is presented that highlights the differences between these syndromes. To avoid errors in diagnosis because of the similarity in names, the authors caution that, based on additional information now available, the preferred names should be Focal Dermal Hypoplasia syndrome for Goltz-Gorlin syndrome and Nevoid Basal Cell Carcinoma syndrome for Gorlin-Goltz syndrome.

  20. Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report

    OpenAIRE

    Acharya, Sonu; Panda, Swagatika; Singh Dhull, Kanika; Sahoo, Sujit Ranjan; Ray, Prayas

    2013-01-01

    ABSTRACT Gorlin's syndrome is a rare disorder transmitted as an autosomal dominant trait. It is characterized by multiple disorders involving multiple systems. We present a case of 11-year-old male child presenting with multiple odontogenic keratocyst to the dental clinic. Retrograde diagnosis of Gorlin-Goltz syndrome was made after clinical and radiological investigation. How to cite this article: Acharya S, Panda S, Dhull KS, Sahoo SR, Ray P. Gorlin Syndrome with Bilateral Polydactyly: A Ra...

  1. Gorlin-Goltz syndrome: A rare case report

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    Chetan A Pol

    2013-01-01

    Full Text Available Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts (OKCs and musculoskeletal malformations. A rare case of this syndrome observed in a 13-year-old male patient is presented in which multiple OKCs were causing disfigurement of the lower jaw as well as displacement and malocclusion of the teeth. Early diagnosis and treatment of this syndrome is important to reduce the severity of complications including cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction due to jaw cysts.

  2. Gorlin's syndrome with a thin corpus callosum and a third ventricular cyst

    Energy Technology Data Exchange (ETDEWEB)

    Kantarci, M.; Alper, F.; Onbas, O. [Department of Radiology, Atatuerk University School of Medicine, Erzurum (Turkey); Ertas, U. [Department of Oral and Maxillofacial Surgery, Atatuerk University School of Dentist, Erzurum (Turkey); Sutbeyaz, Y.; Karasen, R.M. [Otolaryngology, Atatuerk University School of Medicine, Otolaryngology, Erzurum (Turkey)

    2003-06-01

    Gorlin's syndrome (naevoid basal cell carcinoma) is an autosomal dominant tumor-predisposition syndrome, classically consists of multiple basal cell carcinomas of the skin, odontogenic keratocyst of the jaw, various skeletal abnormalities, and lamellar falx calcifications. Many associated lesions have been reported. We report a case of Gorlin's syndrome in a 22-year-old man in whom CT and MR images showed unusual findings of the thin corpus callosum and third ventricular cyst. We present a case of this syndrome with special emphasis on its unusual neuroradiological findings and radiological management. (orig.)

  3. Skeletal and dermatological manifestations of the nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Results of 8 patients in 12 years; Skelettale und kutane Charakteristika des naevoiden Basalzellkarzinomsyndroms (Gorlin-Goltz-Syndrom) Ergebnisse von 8 Patienten aus 12 Jahren. Ergebnisse von 8 Patienten aus 12 Jahren

    Energy Technology Data Exchange (ETDEWEB)

    Rupprecht, M.; Barvencik, F.; Amling, M.; Pogoda, P. [Universitaetsklinikum Hamburg-Eppendorf (Germany). Klinik und Poliklinik fuer Unfall-, Hand- und Wiederherstellungschirurgie; Universitaetsklinikum Hamburg-Eppendorf (Germany). Zentrum fuer Biomechanik und Skelettbiologie; Mensing, C.H. [Asklepios Klinik St. Georg, Hamburg (Germany). Eduard-Arning-Klinik fuer Dermatologie und Allergologie; Ittrich, H. [Universitaetsklinikum Hamburg-Eppendorf (Germany). Klinik fuer Diagnostische und Interventionelle Radiologie; Heiland, M. [Universitaetsklinikum Hamburg-Eppendorf (Germany). Klinik und Poliklinik fuer Zahn-, Mund-, Kiefer- und Gesichtschirurgie; Rueger, J.M. [Universitaetsklinikum Hamburg-Eppendorf (Germany). Klinik und Poliklinik fuer Unfall-, Hand- und Wiederherstellungschirurgie

    2007-06-15

    Purpose: In 1960 Gorlin and Goltz defined the nevoid basal cell carcinoma syndrome (NBCCS, Gorlin-Goltz Syndrome) as a syndrome comprising multiple basal cell carcinoma, odontogenic keratocysts, and skeletal anomalies. NBCCS is an autosomal dominantly inherited disease with an estimated prevalence of 1:150 000 and diagnosis of this syndrome is often an accidental finding of radiological investigations. The purpose of this study was to report the varied radiological and dermatological manifestations of our patients affected with NBCCS and to present this rare syndrome as a differential diagnosis of skeletal anomalies. Materials and Methods: Between 1994 and 2005 the demographic, clinical, radiological and histological data of 8 patients with NBCCS were retrospectively analyzed. Nevoid basal cell carcinoma syndrome was diagnosed in the event of two major or one major and two minor criteria. The major criteria are more than 2 basal cell carcinoma, odontogenic keratocysts, three or more palmar pits, and calcification of the falx cerebri. Results: Between 1994 and 2005 8 patients (3 females and 5 males) with NBCCS were treated in our departments. The average age at the time of diagnosis of NBCCS was 49.9 years. All patients had a minimum of two major criteria. The major criteria with the most frequency were the basal cell carcinoma (6 patients) and the odontogenic keratocysts (5 patients), followed by the calcification of the falx cerebri and palmoplantar pits (4 patients). There was no gender-related or age-related predilection and only one patient was affected with pain in his fingers which radiologically correlated to small cystic bone lesions (''flame-shaped lucencies''). (orig.)

  4. Imaging findings of Gorlin-Goltz syndrome

    International Nuclear Information System (INIS)

    A 15-year-old girl was referred to a dentist complaining of parageusia, bad taste in the mouth, which started 9 months ago. Panoramic X-ray and non-enhanced computed tomography scan revealed multiple bilateral unilocular cysts in the mandible and maxilla, along with calcification of anterior part of the falx cerebri. She was eventually diagnosed with Gorlin-Goltz syndrome based on imaging and histopathologic finding of keratocystic odontogenic tumor

  5. Delayed diagnosis of Gorlin syndrome: Learning from mistakes!

    Directory of Open Access Journals (Sweden)

    Subramaniyan Ramanathan

    2015-01-01

    Full Text Available Gorlin syndrome (GS is a rare inherited multisystem disorder with predisposition to basal cell carcinomas and various other neoplasms. Characteristic features include falx calcification, multiple odontogenic keratocysts (OKCs, early onset medulloblastoma, craniofacial and skeletal malformations, cardiac and ovarian fibroma. We present a case of GS in a 9-year-old girl with recurrent dental infections which was overlooked for 8 years. Diagnosis was finally suggested by the incidental detection of multiple OKCs and ovarian fibromas on follow-up magnetic resonance imaging performed for surveillance of previous operated brain tumor.

  6. Síndrome de Gorlin-Goltz: Serie de 7 casos Gorlin-Goltz Syndrome: A 7 cases serie

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    S. Rosón-Gómez

    2009-10-01

    Full Text Available El Síndrome Névico Basocelular (SNBC o Síndrome de Gorlin- Goltz es un trastorno autosómico dominante, caracterizado principalmente por carcinomas basocelulares, múltiples queratoquistes y anomalías esqueléticas. El presente trabajo revisa a este desconocido síndrome dada la importancia que tiene para nosotros como especialistas. Presentamos un total de siete casos recogidos por el Servicio Cirugía Oral y Maxilofacial desde 1992 al 2008, con seguimiento medio de 10 años, determinamos la frecuencia de las características clínicas en nuestra serie de SNBC y el manejo terapéutico de las mismas.Nevoid Basal Cell Carcinoma Syndrome (NBCSS or Gorlin-Goltz Syndrome is an autosomal dominant disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocysts and skeletal anomalies. This report reviews current knowledge of this disorder that is important to us as specialists. The authors reviewed seven case files from the Department of Oral and Maxillofacial Surgery of H. U. La Princesa from 1992-2008. The average follow up was 10 years; we determine the frequency of the clinical features and treatment in our series of NBCCS.

  7. Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome

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    S Manjima

    2015-01-01

    Full Text Available Gorlin-Goltz syndrome or basal cell nevus syndrome is a comparatively rare syndrome characterized by basal cell nevi, odontogenic keratocysts, and skeletal anomalies. Diagnosis is based on the major and minor clinical and radiographic criteria. Dentist plays a major role in the diagnosis of this disease due to the oral and maxillofacial manifestations of the syndrome. In some cases, jaw cysts are diagnosed by routine radiographs advised by the dentists. Odontogenic keratocysts in such syndromic patients will be multiple and extensive and in some cases results in cortical expansion and facial disfigurement. Thorough clinical examination and investigations prompt an early confirmation of the syndrome, which is very essential to avoid morbidity associated with the syndrome. Here, we report a case of multiple odontogenic cysts in a 16-year-old patient which later was diagnosed as a case of Gorlin Goltz syndrome.

  8. Imaging findings in a case of Gorlin-Goltz syndrome: a survey using advanced modalities

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    Bronooh, Pegah [Dental School, Shiraz University of Medical Sciences, Shiraz (Iran, Islamic Republic of); Shakibafar, Ali Reza [TABA Medical Imaging Center, Shiraz (Iran, Islamic Republic of); Houshyar, Maneli; Nafarzade, Shima [Oral Pathology Department, Babol Dental School, Babol (Iran, Islamic Republic of)

    2011-12-15

    Gorlin-Goltz syndrome is an infrequent multi-systemic disease which is characterized by multiple keratocysts in the jaws, calcification of falx cerebri, and basal cell carcinomas. We report a case of Gorlin-Goltz syndrome in a 23-year-old man with emphasis on image findings of keratocyctic odontogenic tumors (KCOTs) on panoramic radiograph, computed tomography, magnetic resonance (MR) imaging, and Ultrasonography (US). In this case, pericoronal lesions were mostly orthokeratinized odontogenic cyst (OOC) concerning the MR and US study, which tended to recur less. The aim of this report was to clarify the characteristic imaging features of the syndrome-related keratocysts that can be used to differentiate KCOT from OOC. Also, our findings suggested that the recurrence rate of KCOTs might be predicted based on their association to teeth.

  9. An uncommon disorder with multiple skeletal anomalies: Gorlin-Goltz syndrome.

    Science.gov (United States)

    Keçeli, Onur; Coskun-Benlidayı, İlke; Benlidayı, M Emre; Erdoğan, Özgür

    2014-01-01

    Gorlin-Goltz syndrome is an uncommon disorder transmitted through autosomal dominant inheritance. This syndrome is characterized by multiple odontogenic keratocysts, along with congenital skeletal anomalies and basal cell carcinomas. A 16-year-old girl was admitted with a complaint of swelling on the lower jaw. She had multiple basal cell nevi on both hands. Multiple lytic bone lesions on radiographs were defined as odontogenic keratocysts following the biopsy. The patient was referred to the Department of Physical Medicine and Rehabilitation for detailed musculoskeletal evaluation. Adam's forward bend test revealed a hump on the right side representing right thoracic scoliosis. Cervical kyphosis, thoracic lordosis and scoliosis, bifid rib and sacral and lumbar spina bifida on plain radiographs led to the diagnosis of Gorlin-Goltz syndrome. Since early diagnosis may provide optimum surveillance for related neoplasms, it is of paramount importance for pediatricians as well as physicians dealing with the musculoskeletal system to be aware of this rare condition. PMID:25818966

  10. Follow-up of patient with Gorlin-Goltz Syndrome – a case report

    Directory of Open Access Journals (Sweden)

    Alexsandra da Silva Botezeli STOLZ

    2010-06-01

    Full Text Available Introduction: The Gorlin-Goltz Syndrome, also known as Nevoid Basal Cell Carcinoma Syndrome, is a dominant autosomal hereditary disorder which is characterized by the presence of multiple jaw keratocysts and basal cell carcinomas, besides musculoskeletal, neurological, dermatological and endocrine abnormalities. Case report: This paper reports the case of a fifteen-year-old patient who was referred to the Faculty of Dentistry of the Federal University of Santa Maria (RS, Brazil and presented multiple jaw keratocysts, which were surgically removed in several steps. The patient is under observation for 48 months, including clinical and radiographic evaluations. Conclusion: It can be concluded that systematic and regular monitoring may avoid possible harmful consequences to the patient.

  11. Síndrome de Gorlin-Goltz: Serie de 7 casos Gorlin-Goltz Syndrome: A 7 cases serie

    OpenAIRE

    S. Rosón-Gómez; R. González-García; L. Naval-Gías; J. Sastre-Pérez; M.F. Muñoz-Guerra; F.J. Díaz-González

    2009-01-01

    El Síndrome Névico Basocelular (SNBC) o Síndrome de Gorlin- Goltz es un trastorno autosómico dominante, caracterizado principalmente por carcinomas basocelulares, múltiples queratoquistes y anomalías esqueléticas. El presente trabajo revisa a este desconocido síndrome dada la importancia que tiene para nosotros como especialistas. Presentamos un total de siete casos recogidos por el Servicio Cirugía Oral y Maxilofacial desde 1992 al 2008, con seguimiento medio de 10 años, determinamos la frec...

  12. A Case of Gorlin-Goltz Syndrome Presented with Psychiatric Features

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    Amir Mufaddel

    2014-01-01

    Full Text Available We report a case of a 34-year-old male who presented with an acute onset of pleomorphic psychiatric features. Upon examination we later diagnosed him with Gorlin-Goltz syndrome based on clinical and radiological findings that are characteristic for this rare autosomal dominant syndrome. His psychiatric manifestations included irritability, aggressive behavior, labile mood, hallucinations, paranoid delusions, and transient cognitive impairment. His past history indicated surgical excision of pigmented lesion in the left lower eyelid which turned out to be a basal cell carcinoma. His past visits to dermatology clinics indicated pitted keratosis involving hands, callosities, and seborrheic dermatitis. There were numerous palmar pits, and Brain CT Head scan revealed extensive calcification along falx cerebri and around the cerebellar vermis. He had low (20 ng/L vitamin D level and high parathyroid hormone level. The patient improved using antipsychotic medications and vitamin D supplementations for symptomatic management and was discharged with a plan for multispecialty outpatient follow-up. This case highlights the importance of considering rare organic etiologies in the differential diagnosis of patients presenting with psychiatric symptoms. This is of vital importance for early intervention to prevent complications and for better outcomes of the coexistent diseases.

  13. Targeted therapy for hereditary cancer syndromes: neurofibromatosis type 1, neurofibromatosis type 2, and Gorlin syndrome.

    Science.gov (United States)

    Agarwal, Rishi; Liebe, Sarah; Turski, Michelle L; Vidwans, Smruti J; Janku, Filip; Garrido-Laguna, Ignacio; Munoz, Javier; Schwab, Richard; Rodon, Jordi; Kurzrock, Razelle; Subbiah, Vivek

    2014-12-01

    Hereditary cancer syndromes are well known in the oncology community, typically affecting children, adolescents, and young adults and thereby resulting in great cumulative morbidity and mortality. These syndromes often lag behind their de novo counterparts in the development of approved novel treatment options due to their rarity in the general population. Recent work has allowed the identification of molecular aberrations and associated targeted therapies that may effectively treat these conditions. In this review, we seek to characterize some of the involved aberrations and associated targeted therapies for several germline malignancies, including neurofibromatosis types 1 and 2, and Gorlin syndrome. Though patients with hereditary cancer syndromes may be too rare to effectively include in large clinical trials, by understanding the pathophysiology of these diseases, clinicians can attain insights into the use of targeted therapies in their own practice when treating affected individuals. PMID:25549703

  14. Skeletal stigmata as keys to access to the composite and ancient Gorlin-Goltz syndrome history: The Egypt, Pompeii and Herculaneum lessons.

    Science.gov (United States)

    Ponti, Giovanni; Pellacani, Giovanni; Tomasi, Aldo; Sammaria, Giuliano; Manfredini, Marco

    2016-09-10

    There are several genetic diseases with a wide spectrum of congenital bone stigmata in association to cutaneous and visceral benign and malignant neoplasms. Gorlin-Goltz syndrome, also named nevoid basal cell carcinoma syndrome, is an autosomal dominant systemic disease with almost complete penetrance and high intra-familial phenotypic variability, caused by germline mutations of the gene PTCH1. The syndrome is characterized by unusual skeletal changes and high predisposition to the development of multiple basal cell carcinomas, odontogenic keratocysts tumors and other visceral tumors. The Gorlin syndrome, clinically defined as distinct syndrome in 1963, existed during Dynastic Egyptian times, as revealed by a costellation of skeletal findings compatible with the syndrome in mummies dating back to 3000years ago and, most likely, in the ancient population of Pompeii. These paleogenetic and historical evidences, together with the clinical and biomolecular modern evidences, confirm the quite benign behavior of the syndrome and the critical value of the multiple and synchronous skeletal anomalies in the recognition of these rare and complex genetic disease. PMID:26794802

  15. Gorlin Syndrome and Desmoplastic Medulloblastoma: Report of 3 Cases With Unfavorable Clinical Course and Novel Mutations

    OpenAIRE

    Gururangan, Sridharan; Robinson, Giles; Ellison, David W.; Wu, Gang; He, Xuelian; Lu, Q. Richard; McLendon, Roger; Grant, Gerald; Driscoll, Timothy; Neuberg, Ronnie

    2015-01-01

    We present three cases of genetically confirmed Gorlin syndrome with desmoplastic medulloblastoma (DMB) in whom tumor recurred despite standard therapy. One patient was found to have a novel germline missense PTCH1 mutation. Molecular analysis of recurrent tumor using fluorescent in situ hybridization (FISH) revealed PTEN and/or PTCH1 loss in 2 patients. Whole exome sequencing (WES) of tumor in one patient revealed loss of heterozygosity of PTCH1 and a mutation of GNAS gene in its non-coding ...

  16. Unusual Cortical Bone Features in a Patient with Gorlin-Goltz Syndrome: A Case Report

    International Nuclear Information System (INIS)

    Gorlin-Goltz syndrome (GGS) consists of ectodermal and mesodermal abnormalities. In this case report we will investigate lower extremity lesions of GGS. A 52-year-old man with GGS underwent skull and lower extremity computer tomography. Radiographic findings included cervical spondylosis, transparent areas with slurred margins, and cerebral falx calcification. Tibial and fibular specific cortical lesions (thin cortical and subcortical cystic lesions) were seen on the radiography, which was confirmed by computer tomography. To our knowledge, this is the first report of such a long lesion of the tibia and fibula. Specific lower extremity cortical lesions (thin cortical and subcortical cystic lesions) may occur and these abnormalities can be found on radiography or CT, which are most probably attributed to retinoid treatment

  17. [Multiple ovarian fibromas in a patient with Gorlin syndrome: US and MR imaging features with pathological correlation].

    Science.gov (United States)

    Berment, H; Genevois, A; Dacher, J N; Sabourin, J C

    2010-09-01

    We report a case of multiple ovarian fibromas in a 23 year old woman with Gorlin syndrome. We describe the US and MR imaging features with pathological correlation. The fibrous component of the tumors were hypoechoic and attenuating on US with corresponding T2W hypointensity whereas myxoid components were hypoechoic with increased through transmission on US with corresponding T2W hyperintensity. PMID:20814383

  18. Incidental finding of lamellar calcification of the falx cerebri leading to the diagnosis of gorlin-goltz syndrome

    OpenAIRE

    Saulite, I.; Voykov, B; Mehra, T; Hoetzenecker, W.; Guenova, E

    2013-01-01

    Here, we report the case of an incidental finding of lamellar calcification of the falx cerebri in a routine computed tomography scan of the head after an accidental trauma. This lamellar calcification led to the diagnosis of Gorlin-Goltz syndrome (GGS) in the patient and her daughter. Lamellar calcification of the falx cerebri is a pathognomonic feature of GGS. Our case report highlights the importance of a multidisciplinary diagnostic approach to GGS.

  19. Gorlin syndrome and desmoplastic medulloblastoma: Report of 3 cases with unfavorable clinical course and novel mutations.

    Science.gov (United States)

    Gururangan, Sridharan; Robinson, Giles; Ellison, David W; Wu, Gang; He, Xuelian; Lu, Q Richard; McLendon, Roger; Grant, Gerald; Driscoll, Timothy; Neuberg, Ronnie

    2015-10-01

    We present three cases of genetically confirmed Gorlin syndrome with desmoplastic medulloblastoma (DMB) in whom tumor recurred despite standard therapy. One patient was found to have a novel germline missense PTCH1 mutation. Molecular analysis of recurrent tumor using fluorescent in situ hybridization (FISH) revealed PTEN and/ or PTCH1 loss in 2 patients. Whole exome sequencing (WES) of tumor in one patient revealed loss of heterozygosity of PTCH1 and a mutation of GNAS gene in its non-coding 3' -untranslated region (UTR) with corresponding decreased protein expression. While one patient died despite high-dose chemotherapy (HDC) plus stem cell rescue (ASCR) and palliative radiotherapy, two patients are currently alive for 18+ and 120+ months respectively following retrieval therapy that did not include irradiation. Infants with DMB and GS should be treated aggressively with chemotherapy at diagnosis to prevent relapse but radiotherapy should be avoided. The use of molecular prognostic markers for DMB should be routinely used to identify the subset of tumors that might have an aggressive course. PMID:25940061

  20. Nevoid Basal Cell Carcinoma Syndrome

    Science.gov (United States)

    ... Nevoid Basal Cell Carcinoma Syndrome Request Permissions Nevoid Basal Cell Carcinoma Syndrome Approved by the Cancer.Net Editorial Board , 04/2016 What is Nevoid Basal Cell Carcinoma Syndrome? Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is ...

  1. Deficient Expression of Aldehyde Dehydrogenase 1A1 Is Consistent with Increased Sensitivity of Gorlin Syndrome Patients to Radiation Carcinogenesis

    Energy Technology Data Exchange (ETDEWEB)

    Wright, Aaron T.; Magnaldo, Thierry; Sontag, Ryan L.; Anderson, Lindsey N.; Sadler, Natalie C.; Piehowski, Paul D.; Gache, Yannick; Weber, Thomas J.

    2015-06-01

    Human phenotypes that are highly susceptible to radiation carcinogenesis have been identified. Sensitive phenotypes often display robust regulation of molecular features that modify biological response, which can facilitate identification of relevant pathways/networks. Here we interrogate primary dermal fibroblasts isolated from Gorlin syndrome patients (GDFs), who display a pronounced tumorigenic response to radiation, in comparison to normal human dermal fibroblasts (NHDFs). Our approach exploits newly developed thiol-reactive probes with a flexible click chemistry functional group to define changes in protein thiol profiles in live cell studies, which minimizes artifacts associated with cell lysis. We observe qualitative differences in protein thiol profiles by SDS-PAGE analysis when detection by iodoacetamide vs maleimide probe chemistries are compared, and pretreatment of cells with hydrogen peroxide eliminates detection of the majority of SDS-PAGE bands. Redox probes revealed deficient expression of an apparent 55 kDa protein thiol in GDFs from independent donors, compared with NHDFs. Proteomics tentatively identified this protein as aldehyde dehydrogenase 1A1 (ALDH1A1), a key enzyme regulating retinoic acid synthesis, and this deficiency was confirmed by Western blot. Redox probes revealed additional protein thiol differences between GDFs and NHDFs, including radiation responsive annexin family members. Our results indicate a multifactorial basis for the unusual sensitivity of Gorlin syndrome to radiation carcinogenesis, and the pathways identified have plausible implications for radiation health effects.

  2. Treatment of obstructive uropathy in one of three young brothers suffering from Gorlin-Cohen syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Vakalopoulos Ioannis

    2012-01-01

    Full Text Available Abstract Background Frontometaphyseal dysplasia, or Gorlin-Cohen syndrome, is an X-linked disorder primarily characterized by skeletal dysplasia, such as hyperostosis of the skull and abnormalities of tubular bone modeling. Some patients develop extraskeletal manifestations, such as urinary tract anomalies. Case presentation A 26-year-old male patient was diagnosed with frontometaphyseal dysplasia and suffered from chronic urine retention. Although the patient was primarily diagnosed with a neurogenic bladder, our work-up revealed posterior urethral valves, bladder neck stenosis, and multiple bladder stones. The patient was treated by transurethral resection of the urethral valves and bladder neck with simultaneous open cystolithotomy to remove the bladder calculi. After removal of the catheter, the patient voided normally and had no post-void residual urine. At the 1-year follow-up, he was still voiding normally; his urodynamic investigation was also normal. Conclusions In the recent literature, there is scarce information on the diagnosis, treatment, and follow-up of patients with malformations of the urinary tract as a result of Gorlin-Cohen syndrome. The case presented here could guide urological approaches to patients suffering from this rare condition.

  3. Estudio clínico y genético en carcinoma basocelular esporádico y asociado a Síndrome de Gorlin

    OpenAIRE

    Palacios Álvarez, Irene

    2016-01-01

    [ES] El carcinoma basocelular (CBC) es el tumor más común en la población caucásica y constituye aproximadamente el 80% de los cánceres cutáneos no melanoma. Existen dos formas fundamentales de presentación: esporádica y asociada a genodermatosis, destacando el siíndrome de gorlin en este último grupo. En la patogenia molecular del carcinoma basocelular destacan las mutaciones en el gen PTCH1, que se encuentra involucrado en la vía de señalización sonic hedhehog. El objetivo de esta ...

  4. Basal Cell Carcinoma in Gorlin's Patients: a Matter of Fibroblasts-Led Protumoral Microenvironment?

    Directory of Open Access Journals (Sweden)

    Yannick Gache

    Full Text Available Basal cell carcinoma (BCC is the commonest tumor in human. About 70% sporadic BCCs bear somatic mutations in the PATCHED1 tumor suppressor gene which encodes the receptor for the Sonic Hedgehog morphogen (SHH. PATCHED1 germinal mutations are associated with the dominant Nevoid Basal Cell Carcinoma Syndrome (NBCCS, a major hallmark of which is a high susceptibility to BCCs. Although the vast majority of sporadic BCCs arises exclusively in sun exposed skin areas, 40 to 50% BCCs from NBCCS patients develop in non photo-exposed skin. Since overwhelming evidences indicate that microenvironment may both be modified by- and influence the- epithelial tumor, we hypothesized that NBCCS fibroblasts could contribute to BCCs in NBCCS patients, notably those developing in non photo-exposed skin areas. The functional impact of NBCCS fibroblasts was then assessed in organotypic skin cultures with control keratinocytes. Onset of epidermal differentiation was delayed in the presence of primary NBCCS fibroblasts. Unexpectedly, keratinocyte proliferation was severely reduced and showed high levels of nuclear P53 in both organotypic skin cultures and in fibroblast-led conditioning experiments. However, in spite of increased levels of senescence associated β-galactosidase activity in keratinocytes cultured in the presence of medium conditioned by NBCCS fibroblasts, we failed to observe activation of P16 and P21 and then of bona fide features of senescence. Constitutive extinction of P53 in WT keratinocytes resulted in an invasive phenotype in the presence of NBCCS fibroblasts. Finally, we found that expression of SHH was limited to fibroblasts but was dependent on the presence of keratinocytes. Inhibition of SHH binding resulted in improved epidermal morphogenesis. Altogether, these data suggest that the repertoire of diffusible factors (including SHH expressed by primary NBCCS fibroblasts generate a stress affecting keratinocytes behavior and epidermal homeostasis

  5. Basal Cell Nevus Syndrome. A Case Presentation Síndrome de Gorlin. Presentación de caso.

    Directory of Open Access Journals (Sweden)

    Blas Jorge González Manso

    Full Text Available

    Basal Cell Nevus Syndrome is an infrequent entity of very low incidence according to reports in medical literature. It is characterized by considerable groups of alterations which are presented in the organism in a variable way, and with localized lesions in the maxillofacial area. A 61 year-old white male patient who lives in the urban area of Cienfuegos city is presented. He has family references of numerous physical deformities since he was born such as mental retardation, presence of moles since the first decade of his life and augmentation of the mandibular body volume. The diagnosis was keratocysts based on the clinical and radiological examinations as well as histopathological studies.

    El síndrome de Gorlin es una entidad infrecuente, de muy baja incidencia según reportes de la literatura médica. Se caracteriza por un grupo considerable de alteraciones que se presentan de manera variable en el organismo y lesiones localizadas en la región maxilofacial. Se presentó el caso de un paciente de 61 años de edad, masculino, de raza blanca, procedente de la zona urbana de Cienfuegos, con la referencia familiar de numerosas deformidades físicas desde su nacimiento: retraso mental, presencia de lunares a partir de la primera década de la vida y aumento de volumen del cuerpo mandibular. El diagnóstico, apoyado en exámenes clínicos y radiológicos, así como en estudios histopatológicos, fue la presencia de queratoquistes.

  6. Recurrence of keratocyst in nevoid basal cell carcinoma syndrome: A major diagnostic dilemma for clinicians

    Directory of Open Access Journals (Sweden)

    Anurag Gupta

    2013-01-01

    Full Text Available The odontogenic keratocysts (OKC usually represent a particular entity that has been of interest primarily due to biological aggressiveness and to its frequent recurrence. Nevoid basal cell carcinoma syndrome (NBCCS, also known as Gorlin syndrome is a hereditary condition characterized by a wide-range of developmental abnormalities and a predisposition to neoplasms. There are several possible reasons why OKC recur so frequently and require meticulous surgical planning and execution. This article has attempted to show that there is a lack of published evidence regarding the cause of frequent recurrent of OKC that presented in NBCCS. However, the findings of the study revealed differences in opinion regarding the treatment modalities, which necessitates further long term clinical studies that could precisely document certain reliable guidelines in this point of view.

  7. Multiple keratocystic odontogenic tumors in a non-syndromic minor patient: Report of an unusual case

    OpenAIRE

    Shalu Rai; Rana, A. S.; Puneet Kalra; Deepak Gupta; Sumit Goel

    2013-01-01

    Keratocystic odontogenic tumor (KCOT) is developmental odontogenic cysts of epithelial origin known for their potentially aggressive behavior and significant rate of recurrences. Single odontogenic cysts are very well documented in the literature. Multiple (KCOT) are principle features of nevoid basal cell carcinoma syndrome (naevoid basal cell carcinoma syndrome; Gorlin-Goltz syndrome). We report an intriguing case of multiple KCOT in a non-syndromic patient simultaneously occurring in maxil...

  8. Intricate correlation and biological behavior of keratocyst in nevoid basal cell carcinoma syndrome: A comprehensive review of literature

    Directory of Open Access Journals (Sweden)

    Asha Raj

    2013-01-01

    Full Text Available The odontogenic keratocysts (OKC usually represent a particular entity that has been of interest mainly due to biological aggressiveness and to its frequent recurrence. Nevoid basal cell carcinoma syndrome (NBCCS, also known as Gorlin syndrome is a hereditary condition characterized by a wide-range of developmental abnormalities and a predisposition to neoplasms. There are several possible reasons why OKC recur so frequently and require meticulous surgical planning and execution. This mini review has attempted to show that there is a lack of published evidence regarding the cause of frequent recurrent of OKC that presented in NBCCS. However, the findings of the study revealed differences in opinion regarding the treatment modalities, which necessitates further long term clinical studies that could precisely document certain reliable guidelines in this perspective.

  9. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kimonis, V.E.; Yang, M.L.; Bale, S.J. [National Institute of Arthritis and Musculoskeletal and Skin Disease, Bethesda, MD (United States)] [and others

    1997-03-31

    Nevoid basal cell carcinoma syndrome (NBCC; Gorlin syndrome), an autosomal dominant disorder linked to 9q22.3-q31, and caused by mutations in PTC, the human homologue of the Drosophila patched gene, comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies and calcification of the falx cerebri. We reviewed the findings on 105 affected individuals examined at the NIH since 1985. The data included 48 males and 57 females ranging in age from 4 months to 87 years. Eighty percent of whites (71/90) and 38% (5/13) of African-Americans had at least one basal cell carcinoma (BCC), with the first tumor occurring at a mean age of 23 (median 20) years and 21 (median 20) years, respectively. Excluding individuals exposed to radiation therapy, the number of BCCs ranged from 1 to >1,000 (median 8) and 1 to 3 (median 2), respectively, in the 2 groups. Jaw cysts occurred in 78/105 (74%) with the first tumor occurring in 80% by the age of 20 years. The number of total jaw cysts ranged from 1 to 28 (median 3). Palmar pits and plantar pits were seen in 87%. Ovarian fibromas were diagnosed by ultrasound in 9/52 (17%) at a mean age of 30 years. Medulloblastoma occurred in 4 patients at a mean age of 2.3 years. Three patients had cleft lip or palate. Physical findings include {open_quotes}coarse face{close_quotes} in 54%, relative macrocephaly in 50%, hypertelorism in 42%, frontal bossing in 27%, pectus deformity in 13%, and Sprengel deformity in 11%. This study delineates the frequency of the clinical and radiological anomalies in NBCC in a large population of US patients and discusses guidelines for diagnosis and management. 48 refs., 3 figs., 5 tabs.

  10. Síndrome de Gorlin: reporte de un caso

    OpenAIRE

    Nicol Orrego F.; Alejandro Tallar N.; Mario Álvarez T.; Sebastián Vega T..; Orlando Ahumada B.

    2014-01-01

    INTRODUCCIÓN: El Síndrome de Gorlin o síndrome del nevo basocelular es una enfermedad hereditaria autosómica dominante, caracterizada por anomalías del desarrollo y predisposición a carcinomas basocelulares múltiples, que constituyen uno de los aspectos más preocupantes de esta patología. Pese a su baja prevalencia y manejo por especialistas, es importante para los médicos generales tener los conocimientos necesarios para identificar y derivar lesiones sospechosas de carc...

  11. Nevoid basal cell carcinoma syndrome; Naevoid Basalzellkarzinom-Syndrom

    Energy Technology Data Exchange (ETDEWEB)

    Grgic, A.; Heinrich, M.; Heckmann, M.; Kramann, B. [Universitaetsklinikum des Saarlandes, Homburg/Saar (Germany). Abt. fuer Diagnostische und Interventionelle Radiologie; Aliani, S. [Universitaetsklinikum des Saarlandes, Homburg/Saar (Germany). Klinik fuer Kinder- und Jugendmedizin; Dill-Mueller, D. [Universitaetsklinikum des Saarlandes, Homburg/Saar (Germany). Hautklinik und Poliklinik; Uder, M. [Erlange-Nuernberg Univ. (Germany). Inst. fuer Diagnostische Radiologie

    2005-07-01

    Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an autosomal-dominant disorder characterized by multiple basal cell carcinomas, jaw cysts, palmar/plantar pits, calcification of the falx cerebri, and spine and rib anomalies. The combination of clinical, imaging, and histological findings is helpful in identifying NBCCS patients. Imaging plays a crucial role in evaluation of these patients. We present a wide variety of clinical and radiological findings characteristic of this disease. (orig.)

  12. Multiple keratocystic odontogenic tumors in a non-syndromic minor patient: Report of an unusual case

    Directory of Open Access Journals (Sweden)

    Shalu Rai

    2013-01-01

    Full Text Available Keratocystic odontogenic tumor (KCOT is developmental odontogenic cysts of epithelial origin known for their potentially aggressive behavior and significant rate of recurrences. Single odontogenic cysts are very well documented in the literature. Multiple (KCOT are principle features of nevoid basal cell carcinoma syndrome (naevoid basal cell carcinoma syndrome; Gorlin-Goltz syndrome. We report an intriguing case of multiple KCOT in a non-syndromic patient simultaneously occurring in maxilla as well as in mandible with brief highlight on molecular data and the treatment modality.

  13. [Colorectal carcinoma in Cronkhite-Canada syndrome].

    Science.gov (United States)

    Zügel, N P; Hehl, J A; Jechart, G; Tannapfel, A; Wienbeck, M; Witte, J

    2001-05-01

    We report a 63-year-old lady with Cronkhite-Canada syndrome, who developed colorectal cancer. A hemicolectomy was performed, and the tumor specimen was prepared for DNA-analysis and immunohistochemical screening. We found a mutation of p53 gene without APC- and ras-gene alteration and expression of erbB2-protooncogen. The polyps in non-hereditary Cronkhite-Canada-syndrom are neither adenomatous nor hyperplastic, but patients often develop colorectal cancers. The steps of mutation do not follow the adenoma-carcinoma sequence, first described by Vogelstein 1988. This and previous observations suggest that carcinogenesis in Cronkhite-Canada syndrome follows another independent sequence. PMID:11413916

  14. Gorlin’s syndrome: Atypical case report

    Directory of Open Access Journals (Sweden)

    Sanjay N. Agrawal

    2014-10-01

    Full Text Available Gorlin syndrome or basal cell nevus syndrome (BCNS is a rare autosomal dominant disorder. The condition appears to have complete penetrance and variable expressivity, which makes clinilcal presentation among families variable. All known BCNS carry mutations in PATCHED gene. A 65 years old male patient presented with complaints of characteristic skin lesions on his face, back, palms since early adulthood. The lesions were pigmented nodules with characteristic border. The histopathology showed characteristic features suggestive of Basal Cell Carcinoma (BCC. This case was atypical due to appearance of lesions quite later in life.

  15. Primary hepatocellular carcinoma and metabolic syndrome:An update

    Institute of Scientific and Technical Information of China (English)

    Rubayat; Rahman; Ghassan; M; Hammoud; Ashraf; A; Al-mashhrawi; Khulood; T; Ahmed; Jamal; A; Ibdah

    2013-01-01

    Hepatocellular carcinoma(HCC) is the most common primary liver malignancy. The incidence of hepatocellular carcinoma has increased dramatically by 80% over the past two decades in the United States. Numerous basic science and clinical studies have documented a strong association between hepatocellular carcinoma and the metabolic syndrome. These studies have documented that, in most patients, non-alcoholic fatty liver disease is the hepatic manifestation of the metabolic syndrome, which may progress to hepatocellular carcinoma through the cirrhotic process. However, minority of patients with non-alcoholic fatty liver disease may progress to hepatocellular carcinoma without cirrhosis.This review summarizes the current literature of the link between hepatocellular carcinoma and metabolic syndrome with special emphasis on various components of the metabolic syndrome including risk of association with obesity, diabetes mellitus, hyperlipidemia,and hypertension. Current understanding of pathophysiology, clinical features, treatments, outcomes,and surveillance of hepatocellular carcinoma in the background of metabolic syndrome and non-alcoholic fatty liver disease is reviewed. With the current epidemic of metabolic syndrome, the number of patients with non-alcoholic fatty liver disease is increasing.Subsequently, it is expected that the incidence and prevalence of HCC will also increase. It is very important for the scientific community to shed more light on the pathogenesis of HCC with metabolic syndrome,both with and without cirrhosis. At the same time it is also important to quantify the risk of hepatocellular carcinoma associated with the metabolic syndrome in a prospective setting and develop surveillance recommendations for detection of hepatocellular carcinoma in patients with metabolic syndrome.

  16. Nevoid Basal Cell Carcinoma Syndrome: A Case Report and Review

    OpenAIRE

    Bala Subramanyam, S.; Naga Sujata, D.; Sridhar, K.; Pushpanjali, M

    2011-01-01

    Nevoid basal cell carcinoma syndrome, a rare autosomal dominant disorder, comprises of a number of abnormalities such as multiple nevoid basal cell carcinomas, skeletal abnormalities and multiple keratocystic odontogenic tumors. Diagnosis may be difficult because of the variability of expressivity and different ages of onset for different traits of this disorder. The dental clinician may be the first to encounter and identify this syndrome, when the multiple cysts like radiolucencies are disc...

  17. Nasopharyngeal carcinoma presenting as Gradenigo’s syndrome

    OpenAIRE

    Jana, Avik Kumar; Jaswal, Abhishek; Sikder, Biswajit; Jana, Utpal; Nandi, Tapan Kumar

    2006-01-01

    Nasopharyngeal carcinoma usually has an insidious onset and non-specific features in the initial stages. This makes early diagnosis difficult. The most usual presenting features are cervical lymphadenopathy, otological symptoms (serous otitis media) and involvement of adjacent cranial nerves. We report a case of Gradenigo’s syndrome in a patient of undifferentiated nasopharyngeal carcinoma.

  18. Genetics Home Reference: Meier-Gorlin syndrome

    Science.gov (United States)

    ... complex. This complex regulates initiation of the copying (replication) of DNA before cells divide. Specifically, the pre-replication complex ... controlled process, called replication licensing, helps ensure that DNA replication occurs only once per cell division and is ...

  19. Marine-Lenhart syndrome with papillary thyroid carcinoma

    Directory of Open Access Journals (Sweden)

    Hulusi Atmaca

    2015-01-01

    Full Text Available Graves′ disease with accompanying functioning nodules is known as Marine-Lenhart syndrome. Autonomously functioning thyroid nodules (AFTNs also within Graves′ thyroid tissue are almost always bening in nature. A 45-year-old man developed hyperthyroidism due to the coexistence of Graves′ disease and AFTN. Total thyroidectomy was performed. The hyperfunctioning nodule with centrally hypoactive foci detected by technetium-99m thyroid scanning was histologically diagnosed as papillary thyroid carcinoma that was 2.5 cm in diameter. We report the presence of papillary thyroid carcinoma within AFTN in patients with Marine-Lenhart syndrome, which has not been reported so far.

  20. Laryngeal carcinoma presenting as polymyositis: A paraneoplastic syndrome

    Directory of Open Access Journals (Sweden)

    Ritesh Sahu

    2016-01-01

    Full Text Available Laryngeal carcinoma is rarely associated with paraneoplastic syndrome. Inflammatory myopathy presenting as paraneoplastic event is commonly associated with carcinomas of ovary, lung, pancreas, stomach, colorectal, and non-Hodgkin′s lymphoma. We report a case of elderly male, who presented with proximal muscle weakness and found to be associated with laryngeal carcinoma. Diagnosis of polymyositis (PM was confirmed based on clinical features, laboratory test, and muscle biopsy. Exclusion of other commonly associated malignancies was done. This patient improved gradually after 6 months of immunosuppressive therapy and management of underlying cancer.

  1. Cushing′s syndrome in a case of thymic carcinoma

    Directory of Open Access Journals (Sweden)

    H S Asha

    2011-01-01

    Full Text Available A 29-year-old gentleman presented with episodic features suggestive of Cushing′s syndrome. He was evaluated and diagnosed with ectopic Adrenocorticotropic hormone (ACTH-dependent Cushing′s syndrome due to a thymic tumor. The thymic lesion was excised and histopathology confirmed thymic carcinoma with neuroendocrine differentiation, with local, perineural, and vascular invasion. The postoperative problems and further treatment options have been discussed in this case report.

  2. Clinical and radiological manifestations of paraneoplastic syndrome of bronchogenic carcinoma

    Directory of Open Access Journals (Sweden)

    Goldner Branislav

    2005-01-01

    Full Text Available The objective of this study was to present some clinical and radiological manifestations of PNS in relation to bronchogenic carcinoma (BC and to evaluate the usefulness of imaging findings in the diagnosis of asymptomatic BC. In the study group of 204 patients (146 male and 58 female with proven bronchogenic carcinoma, PNS was present in 18 (8.62% patients. The patients with PNS were divided into two groups. The first one consisted of 13 (72.2% patients with symptoms related to primary tumours while the second one consisted of 5 (27.7% patients with symptoms, at initial appearance, indicative of disorders of other organs and systems. The predominant disorder was Lambert-Eaton Syndrome, associated with small-cell carcinoma. Endocrine manifestations included: inappropriate antidiuretic hormone production syndrome (small-cell carcinoma, a gonadotropin effect with gynaecomastia and testicular atrophy (planocellular carcinoma, small-cell carcinoma, a case of Cushing Syndrome (small-cell carcinoma, and hyper-calcaemia, due to the production of the parathyroid hormone-related peptide, which was associated with planocellular carcinoma. A rare case of bilateral exophthalmos was found as PNS at adenocarcinoma. Digital clubbing and hypertrophic osteoarthropathy (HO were associated with planocellular and adenocarcinoma, while clubbing was much more common than HO, especially among women. The differences between the two groups were related to the time of PNS appearance. In the first group, PNS occurred late on in the illness, while in the second group, PNS preceded the diagnosis of BC. Alternatively, the disappearance of a clinical or a radiological manifestation of PNS after surgery or chemotherapy may be an indicator of an improvement in health or PNS may be the first sign of illness recurrence. Radiological manifestations of PNS in asymptomatic patients may serve as a useful screen for identifying primary BC. In symptomatic patients, it may be an

  3. Bronchogenic carcinoma in acquired immunodeficiency syndrome - report of two cases

    International Nuclear Information System (INIS)

    The authors report two cases of bronchogenic carcinoma in patients with acquired immunodeficiency syndrome. The first patient, a ee-year-old male, developed a left hilar adenocarcinoma, with spleen and bilateral adrenal metastases. The disease progressed unfavourably, resulting in the patient's death in less than a month. The second patient, a 47-year-old male, developed a large mass in the left upper lobe, with invasion of the thoracic wall and destruction of adjacent ribs. The histopathologic study revealed a non-oat-cell carcinoma. Both patients received palliative treatment since diagnosis was established late in the course of the disease. Recent studies suggest an association between bronchogenic carcinoma and human immunodeficiency virus infection. However, an actual increase in the prevalence of bronchogenic carcinoma in HIV-positive patients remains controversial. (author)

  4. Cushing’s Syndrome in a Young Woman: A Rare Presentation of Adrenocortical Carcinoma

    Directory of Open Access Journals (Sweden)

    Nikhil Talwar, Manoj Andley, Bina Ravi, Ajay Kumar

    2008-01-01

    Full Text Available Cushing’s Syndrome is rarely caused by a malignant adrenal tumor. We report the case of a 24-year-oldfemale patient with Cushing’s syndrome caused by a functioning adrenocortical carcinoma and recoveredafter adrenalectomy.

  5. Familial Adrenocortical Carcinoma in Association With Lynch Syndrome

    Science.gov (United States)

    Challis, Benjamin G.; Kandasamy, Narayanan; Powlson, Andrew S.; Koulouri, Olympia; Annamalai, Anand Kumar; Happerfield, Lisa; Marker, Alison J.; Arends, Mark J.; Nik-Zainal, Serena

    2016-01-01

    Context: Adrenocortical carcinoma (ACC) is a rare endocrine malignancy with a poor prognosis. Although the majority of childhood ACC arises in the context of inherited cancer susceptibility syndromes, it remains less clear whether a hereditary tumor predisposition exists for the development of ACC in adults. Here, we report the first occurrence of familial ACC in a kindred with Lynch syndrome resulting from a pathogenic germline MSH2 mutation. Case: A 54-year-old female with a history of ovarian and colorectal malignancy was found to have an ACC. A detailed family history revealed her mother had died of ACC and her sister had previously been diagnosed with endometrial and colorectal cancers. A unifying diagnosis of Lynch syndrome was considered, and immunohistochemical analyses demonstrated loss of MSH2 and MSH6 expression in both AACs (proband and her mother) and in the endometrial carcinoma of her sister. Subsequent genetic screening confirmed the presence of a germline MSH2 mutation (resulting in deletions of exons 1–3) in the proband and her sister. Conclusion: Our findings provide strong support for the recent proposal that ACC should be considered a Lynch syndrome-associated tumor and included in the Amsterdam II clinical diagnostic criteria. We also suggest that screening for ACC should be considered in cancer surveillance strategies directed at individuals with germline mutations in DNA mismatch repair genes. PMID:27144940

  6. Coexistence of subacute thyroiditis and renal cell carcinoma: a paraneoplastic syndrome

    OpenAIRE

    Algün, Ekrem; ALICI, Süleyman; Topal, Cevat; Ugras, Serdar; Erkoç, Reha; Sakarya, M.Emin; Özbey, Nese

    2003-01-01

    RENAL CELL CARCINOMA IS CHARACTERIZED by varied manifestations, which include unusual metastatic sites and paraneoplastic and vascular syndromes. We describe the case of a 57-year-old man who presented with high fever, weight loss, palpitations and a tender goitre. We suggest that, in this patient, subacute thyroiditis manifested as a paraneoplastic syndrome of renal cell carcinoma.

  7. Recent developments in brain tumor predisposing syndromes.

    Science.gov (United States)

    Johansson, Gunnar; Andersson, Ulrika; Melin, Beatrice

    2016-01-01

    The etiologies of brain tumors are in the most cases unknown, but improvements in genetics and DNA screening have helped to identify a wide range of brain tumor predisposition disorders. In this review we are discussing some of the most common predisposition disorders, namely: neurofibromatosis type 1 and 2, schwannomatosis, rhabdoid tumor predisposition disorder, nevoid basal cell carcinoma syndrome (Gorlin), tuberous sclerosis complex, von Hippel-Lindau, Li-Fraumeni and Turcot syndromes. Recent findings from the GLIOGENE collaboration and the newly identified glioma causing gene POT1, will also be discussed. Genetics. We will describe these disorders from a genetic and clinical standpoint, focusing on the difference in clinical symptoms depending on the underlying gene or germline mutation. Central nervous system (CNS) tumors. Most of these disorders predispose the carriers to a wide range of symptoms. Herein, we will focus particularly on tumors affecting the CNS and discuss improvements of targeted therapy for the particular disorders. PMID:26634384

  8. Unusual paraneoplastic syndromes of breast carcinoma: a combination of cerebellar degeneration and Lambert-Eaton Myasthenic Syndrome.

    LENUS (Irish Health Repository)

    Romics, L

    2011-06-01

    Paraneoplastic neurological disorders are rare complications of breast carcinoma. Lambert-Eaton Myasthenic Syndrome (LEMS) is most commonly associated with small cell lung cancer. However, a combination of LEMS and subacute cerebellar degeneration as paraneoplastic syndromes is extremely rare, and has never been described in association with breast cancer.

  9. Successful Treatment in a Case of Massive Hepatocellular Carcinoma with Paraneoplastic Syndrome

    OpenAIRE

    Tsuchiya, Atsunori; Kubota, Tomoyuki; Takizawa, Kazuyoshi; Yamada, Kazuki; Wakai, Toshifumi; Matsuda, Yasunobu; HONMA, TERASU; Watanabe, Masashi; Shirai, Yoshio; Maruyama, Hiroki; Nomoto, Minoru; Aoyagi, Yutaka

    2009-01-01

    Paraneoplastic syndromes of hepatocellular carcinoma (HCC) are not uncommon. However, the prognosis is poor and follow-up and improvement of paraneoplastic syndromes with treatment have been reported rarely. We report a successful case in an aged man of a massive HCC with paraneoplastic syndrome, treated by combined intraarterial chemotherapy and hepatic resection. Paraneoplastic syndrome (erythrocytosis and hyperlipidemia) was monitored throughout the treatment and erythropoietin (EPO) mRNA ...

  10. Renal-type Clear Cell Carcinoma Occurring in the Prostate With Zinner Syndrome

    OpenAIRE

    Yuichi Sato; Masao Kataoka; Junya Hata; Hidenori Akaihata; Soichiro Ogawa; Yoshiyuki Kojima

    2016-01-01

    We report a case of clear cell carcinoma occurring in the prostate with Zinner syndrome in a 64-year-old man. Based on the immunohistochemical findings, it was concluded that this tumor represented primary renal-type clear cell carcinoma arising in the prostate. After receiving radical cystoprostatectomy, he was treated with tyrosine kinase inhibitor (TKI) therapy for local recurrence in accordance with the protocol of renal cell carcinoma (RCC) treatment, because microarray cluster analysis ...

  11. A case of Meigs syndrome mimicking metastatic breast carcinoma

    Directory of Open Access Journals (Sweden)

    Al Mufti Ragheed

    2009-01-01

    Full Text Available Abstract Background Adnexal masses are not uncommon in patients with breast cancer. Breast cancer and ovarian malignancies are known to be associated. In patients with breast cancer and co-existing pleural effusions, ascites and adnexal masses, the probability of disseminated disease is high. Nevertheless, benign ovarian masses can mimic this clinical picture when they are associated with Meigs' syndrome making the work-up and management of these patients challenging. To our knowledge, there are no similar reports in the literature and therefore we present this case to highlight this entity. Case presentation A 56-year old woman presented with a 4 cm, grade 2, invasive ductal carcinoma of her left breast. Pre-treatment staging investigations showed a 13.5 cm mass in her left ovary, a small amount of ascites and a large right pleural effusion. Serum tumour markers showed a raised CA125 supporting the malignant nature of the ovarian mass. The cytology from the pleural effusion was indeterminate but thoracoscopic biopsy failed to show malignancy. The patient was strongly against mastectomy and she was commenced on neo-adjuvant Letrozole 2.5 mg daily with a view to perform breast conserving surgery. After a good response to the hormone manipulation, the patient had breast conserving surgery, axillary sampling and laparoscopic excision of the ovarian mass which was eventually found to be a benign ovarian fibroma. Conclusion Despite the high probability of disseminated malignancy when an ovarian mass associated with ascites if found in a patient with a breast cancer and pleural effusion, clinicians should be aware about rare benign syndromes, like Meigs', which may mimic a similar picture and mislead the diagnosis and management plan.

  12. A case of Meigs syndrome mimicking metastatic breast carcinoma

    Science.gov (United States)

    Lanitis, Sophocles; Sivakumar, Sivahamy; Behranwala, Kasim; Zacharakis, Emmanouil; Al Mufti, Ragheed; Hadjiminas, Dimitri J

    2009-01-01

    Background Adnexal masses are not uncommon in patients with breast cancer. Breast cancer and ovarian malignancies are known to be associated. In patients with breast cancer and co-existing pleural effusions, ascites and adnexal masses, the probability of disseminated disease is high. Nevertheless, benign ovarian masses can mimic this clinical picture when they are associated with Meigs' syndrome making the work-up and management of these patients challenging. To our knowledge, there are no similar reports in the literature and therefore we present this case to highlight this entity. Case presentation A 56-year old woman presented with a 4 cm, grade 2, invasive ductal carcinoma of her left breast. Pre-treatment staging investigations showed a 13.5 cm mass in her left ovary, a small amount of ascites and a large right pleural effusion. Serum tumour markers showed a raised CA125 supporting the malignant nature of the ovarian mass. The cytology from the pleural effusion was indeterminate but thoracoscopic biopsy failed to show malignancy. The patient was strongly against mastectomy and she was commenced on neo-adjuvant Letrozole 2.5 mg daily with a view to perform breast conserving surgery. After a good response to the hormone manipulation, the patient had breast conserving surgery, axillary sampling and laparoscopic excision of the ovarian mass which was eventually found to be a benign ovarian fibroma. Conclusion Despite the high probability of disseminated malignancy when an ovarian mass associated with ascites if found in a patient with a breast cancer and pleural effusion, clinicians should be aware about rare benign syndromes, like Meigs', which may mimic a similar picture and mislead the diagnosis and management plan. PMID:19161612

  13. Thrombocytosis:A paraneoplastic syndrome in patients with hepatocellular carcinoma

    Institute of Scientific and Technical Information of China (English)

    Shinn-Jang Hwang; Chun-Chung Lee; Full-Young Chang; Shou-Dong Lee; Jiing-Chyuan Luo; Chung-Pin Li; Cheng-Wei Chu; Jaw-Ching Wu; Chiung-Ru Lai; Jen-Huei Chiang; Gar-Yang Chau; Wing-Yiu Lui

    2004-01-01

    AIM: Hepatocellular carcinoma (HCC) patients manifest a variety of paraneoplastic syndromes. Thrombocytosis was reported in children with hepatoblastoma. The aims of this study were to evaluate the prevalence and dinical significance of thrombocytosis in HCC patients and its relationships with serum thrombopoietin (TPO).METHODS: We retrospectively reviewed clinical, biochemical and image data of 1 154 HCC patients. In addition, we measured platelet count and serum TPO in HCC patients with and without thrombocytosis, in patients with cirrhosis,chronic hepatitis and healthy subjects in a cross-sectional study.RESULTS: Thirty-one (2.7%) of 1 154 HCC patients had thrombocytosis (platelet count ≥400 K/mm3). HCC patients with thrombocytosis were significantly younger, had a higher serum α-fetoprotein, higher rate of main portal vein thrombosis, larger tumor volume, shorter survival, and were less likely to receive therapy than HCC patients without thrombocytosis. Multivariate logistic regression analyses showed that tumor volumes ≥30% and serum α-fetoprotein ≥ 140 000 ng/mL could significantly predict thrombocytosis.HCC patients with thrombocytosis had a significantly higher mean serum TPO than those without, as well as patients with cirrhosis, chronic hepatitis and healthy subjects.Platelet count and serum TPO dropped significantly after tumor resection in HCC patients with thrombocytosis and re-elevated after tumor recurred. Furthermore, the expression of TPO mRNA was found to be more in tumor tissues than in non-tumor tissues of liver in an HCC patient with thrombocytosis.CONCLUSION: Thrombocytosis is a paraneoplastic syndrome of HCC patients due to the overproduction of TPO by HCC.It is frequently associated with a large tumor volume and high serum α-fetoprotein.

  14. Clinicopathological Features of Endometrial Carcino-ma Associated with Lynch Syndrome in China

    Institute of Scientific and Technical Information of China (English)

    Yingmei WANG; Fengxia XUE; Russell R. BROADDUS; Xia TAO; Susu XIE; Yanbin ZHU

    2009-01-01

    Background and objective To study the clinicopathoiogical characteristics of Lynch syn&ome-associated endometrial carcinoma in China.Methods Twenty-seven patients who fulfilled the Amsterdam Criteria Ⅱ were classified as having Lynch syndrome-associated endometrial carcinoma (Group A), and 331 patients without a family history of cancer were classified as having sporadic endometrial carcinoma (Group B).Results There were 81 malignancies in 27 Lynch syndrome-associated endometrial carcinoma families, including colorectal cancer (CRC, 24.7%), endometrial carcinoma (21.0%), liver (12.3%), stomach (9.9%), lung (6.2%), and breast (6.2%) cancers. Mean age at time of diagnosis was 49.7 years in Group A and 56.3 years in Group B (P=0.004). Second primary cancers occurred in 33.3% of patients in Group A and 5.1% in Group B (P<0.0001). "Ihe most common second primary cancers were colorectal cancer (44%) and ovarian cancer (22%). The percentage of obese patients was higher in Group A (P=0.013). There was no difference between the two groups in incidence of diabetes mellitns or hypertension or in histological type and FIGO stage. The 5-year survival rates for Group A and B were 96.2% and 79.6%, respectively. Prognosis for Group A was better than for Group B (P=0.045).Conclusion Some clinicopathologicai features of Lynch syndrome-associated endometrial carcinoma, such as early onset and multiple primary carcinomas, are similar in the Chinese and American/European populations. However, the Chinese population had a unique family cancer distribution that included lung and breast cancers. An increased number of grade 1 endometrioid tumors and a better prognosis imply better biobehavior in Chinese Lynch syndrome-associated endometrial carcinoma. Obesity may be a co-contributing factor for development of Lynch syndrome associated endometrial cancer in China.

  15. Dramatic response of follicular thyroid carcinoma with superior vena cava syndrome and tracheal obstruction to external-beam radiotherapy

    Energy Technology Data Exchange (ETDEWEB)

    Wilford, M.R.; Chertow, B.S.; Lepanto, P.B.; Leidy, J.W. Jr. (Section of Endocrinology, Marshall University School of Medicine, Huntington, West Virginia (USA))

    1991-06-01

    We report a patient with follicular thyroid carcinoma progressing to superior vena cava (SVC) syndrome and tracheal obstruction despite multiple doses of radioactive iodine therapy but subsequently responding dramatically to external-beam radiotherapy (RT). Although RT is not considered to be the treatment of choice for follicular carcinoma, RT in our patient produced unequivocal improvement of SVC syndrome and tracheal obstruction.

  16. Gardner’s syndrome presenting as duodenal carcinoma in a young male

    Directory of Open Access Journals (Sweden)

    Sarma YS

    2015-10-01

    Full Text Available Gardners syndrome (GS is a variant of familial adenomatous polyposis (FAP and presents with both colonic and extra colonic manifestations. It is an autosomal dominant disorder and results from mutations in adenomatous polyposis coli (APC gene. Patients with GS if not treated early will invariably develop colonic cancers at a much younger age than those with sporadic colonic carcinoma. These patients also develop other malignant tumours like duodenal cancers, gastric cancer, hepatoblastoma, papillary carcinoma of the thyroid and multifocal cholangiocarcinomas. With early diagnosis and treatment of colonic polyposis, adenocarcinoma of the duodenum has become the leading cause of death in FAP patients. The mean age at which duodenal carcinoma is diagnosed in FAP is 45-52 years. We report the rare occurrence of duodenal carcinoma as the presenting feature of Gardner’s syndrome in a young 25-year-old male with no obvious malignant changes in the colonic adenomas.

  17. Primary Sjogren%u2019s Syndrome Associated with Basal Cell Carcinoma: Case Report

    Directory of Open Access Journals (Sweden)

    Tugba Kosker

    2013-04-01

    Full Text Available Sjogren%u2019s syndrome is a chronic autoimmune disease characterized by xerostomia and xerophthalmia, known as the %u2018sicca symptoms%u2019. Patients with Sjogren%u2019s syndrome, characteristically have positive nuclear and cytoplasmic antigens, typically Anti-Ro/SSA and Anti-La/SSB because of lymphocytic infiltration of the exocrine glands. Patients with primary Sjogren%u2019s syndrome, develop systemic complications, non-Hodgkin lymphoma being the most feared of these. We describe here a case of Sjogren%u2019s syndrome with basal cell carcinoma, which presented with an ulcerated lesion on nasal dorsum.

  18. Rare Association of Anti-Hu Antibody Positive Paraneoplastic Neurological Syndrome and Transitional Cell Bladder Carcinoma

    OpenAIRE

    S. Lukacs; Szabo, N; Woodhams, S

    2012-01-01

    Introduction. Paraneoplastic encephalomyelitis (PEM) and subacute sensory neuronopathy (SSN) are remote effects of cancer, usually associated with small-cell lung carcinoma and positive anti-Hu antibody. We describe the rare association of bladder transitional cell carcinoma (TCC) with anti-Hu antibody positivity resulting in this paraneoplastic neurological syndrome. Patient. A 76-year-old female presented with bilateral muscle weakness and paraesthesia of the upper and lower limbs in a leng...

  19. Renal-type Clear Cell Carcinoma Occurring in the Prostate With Zinner Syndrome.

    Science.gov (United States)

    Sato, Yuichi; Kataoka, Masao; Hata, Junya; Akaihata, Hidenori; Ogawa, Soichiro; Kojima, Yoshiyuki

    2016-03-01

    We report a case of clear cell carcinoma occurring in the prostate with Zinner syndrome in a 64-year-old man. Based on the immunohistochemical findings, it was concluded that this tumor represented primary renal-type clear cell carcinoma arising in the prostate. After receiving radical cystoprostatectomy, he was treated with tyrosine kinase inhibitor (TKI) therapy for local recurrence in accordance with the protocol of renal cell carcinoma (RCC) treatment, because microarray cluster analysis using a resected sample demonstrated that the present case belonged to the cluster group of RCC. PMID:26793589

  20. Renal-type Clear Cell Carcinoma Occurring in the Prostate With Zinner Syndrome

    Directory of Open Access Journals (Sweden)

    Yuichi Sato

    2016-03-01

    Full Text Available We report a case of clear cell carcinoma occurring in the prostate with Zinner syndrome in a 64-year-old man. Based on the immunohistochemical findings, it was concluded that this tumor represented primary renal-type clear cell carcinoma arising in the prostate. After receiving radical cystoprostatectomy, he was treated with tyrosine kinase inhibitor (TKI therapy for local recurrence in accordance with the protocol of renal cell carcinoma (RCC treatment, because microarray cluster analysis using a resected sample demonstrated that the present case belonged to the cluster group of RCC.

  1. Quiste de Gorlin asociado a Odontoma: reporte de un caso con su tratamiento quirúrgico Gorlin cyst associated with odontoma: Case report with surgical treatment

    Directory of Open Access Journals (Sweden)

    P. Villarroel Castro

    2005-12-01

    Full Text Available El quiste de Gorlin es un quiste odontogénico que puede presentarse en dos variedades, una quística rodeada por epitelio y de carácter benigno, y una neoplásica localmente agresiva. Se presenta elcaso de una mujer de 18 años con aumento de volumen facial indoloro en región infraorbitaria izquierda. Se realiza la exéresis total de la lesión. Con el estudio histopatológico se obtiene el diagnóstico definitivo de quiste de Gorlin asociado a odontoma. Luego de controles por 3 años, se observa el restablecimiento de la simetría facial, una adecuada regeneración ósea y de los tejidos adyacentes, sin signos de recidiva.Gorlin cyst is an odontogenic cyst that may appear as two types, one cystic and surrounded by epithelium of a benign nature, and the other a locally aggressive neoplasm. The case is presented of an 18-year-old female that had experienced an increase in facial volume in the left infraorbital area that was painless. Total exeresis of the lesion was carried out. The histopathologic study provided the definitive diagnosis of Gorlin cyst associated with odontoma. After a follow-up of three years, facial symmetry was reestablished, there was adequate regeneration of bone and of the adjacent tissue, and there were no signs of relapse.

  2. Interventional treatment of hepatocellular carcinoma complicated by Budd-Chiari syndrome

    International Nuclear Information System (INIS)

    Objective: To evaluate the efficacy of interventional therapy for hepatocellular carcinoma complicated by Budd-Chiari syndrome. Methods: Clinical data and imaging studies of 17 patients with hepatocellular carcinoma complicated by Budd-Chiari syndrome were retrospectively analyzed. Budd-Chiari syndrome was diagnosed by color Doppler ultrasound and confirmed by cavography in 17 patients. Hepatocellular carcinoma was diagnosed by fine-needle aspiration cytology in 5 patients,and by color Doppler ultrasound, computed tomography and/or MRI, and elevated level of alpha-fetoprotein in 12 patients. Both percutaneous transluminal angioplasty for treatment of obstruction of the inferior vena cava and transcatheter arterial chemoembolization (TACE) for hepatocellular carcinoma were performed in all patients. During follow-up, the tumor size, liver function, serum alpha-fetoprotein level and the recanalized inferior vena cava were evaluated by liver ultrasound, CT and laboratory examination. t test was used to compare the pressure. Results: Thirty-nine interventional procedures were performed in 17 patients and all operations were successful without complications, Over the follow-up period of 2 to 90 months after percutaneous transluminal angioplasty in 17 patients, re-occlusion of inferior vena cava occurred in only one patient. Following TACE, all 17 patients survived at two months follow- up, 13 patients survived at 6 months follow-up, 10 patients survived at 1 year follow-up, 5 patients survived at 2 years follow-up. The pressure of vena cava was (20.5±2.1) cm H2O (1 cm H2O=0.098 kPa) before the interventional therapy, while it was (3.6±1.0) cm H2O after it (t=30.32, P<0.05). Conclusion: Interventional therapy can be effectively performed for treatment of hepatocellular carcinoma complicated by Budd-Chiari syndrome. (authors)

  3. Sweet's syndrome: a cutaneous harbinger of ovarian carcinoma

    OpenAIRE

    Fader, Amanda Nickles; Winder, Abigail Duncan; Sandadi, Samith; DeBernardo, Robert

    2012-01-01

    Sweet's syndrome, or acute febrile neutrophilic dermatosis, is a condition characterized by fever, neutrophilia, erythematous skin lesions, and a dermal infiltrate consisting predominantly of mature neutrophils on histology. Sweet's syndrome is a reactive phenomenon and should be considered a cutaneous marker of systemic disease, including underlying malignancy. We present a case of a 56-year-old woman who presented with vague abdominal symptoms and a tender, erythematous rash on her extremit...

  4. Intramedullary spinal cord metastasis from colonic carcinoma presenting as Brown-Sequard syndrome: a case report

    LENUS (Irish Health Repository)

    Kaballo, Mohammed A

    2011-08-02

    Abstract Introduction Intramedullary spinal cord metastasis is very rare. The majority are discovered incidentally during autopsy. Most symptomatic patients present with rapidly progressive neurological deficits and require immediate examination. Few patients demonstrate features of Brown-Séquard syndrome. Radiotherapy is the gold-standard of therapy for Intramedullary spinal cord metastasis. The overall prognosis is poor and the mortality rate is very high. We present what is, to the best of our knowledge, the first case of Intramedullary spinal cord metastasis of colorectal carcinoma presenting as Brown-Séquard syndrome. Case presentation We present the case of a 71-year-old Caucasian man with colonic adenocarcinoma who developed Intramedullary spinal cord metastasis and showed features of Brown-Séquard syndrome, which is an uncommon presentation of Intramedullary spinal cord metastasis. Conclusion This patient had an Intramedullary spinal cord metastasis, a rare form of metastatic disease, secondary to colonic carcinoma. The metastasis manifested clinically as Brown-Séquard syndrome, itself a very uncommon condition. This syndrome is rarely caused by intramedullary tumors. This unique case has particular interest in medicine, especially for the specialties of medical, surgical and radiation oncology. We hope that it will add more information to the literature about these entities.

  5. Glutamic acid decarboxylase antibody-positive paraneoplastic stiff limb syndrome associated with carcinoma of the breast

    Directory of Open Access Journals (Sweden)

    Agarwal Pankaj

    2010-01-01

    Full Text Available Stiff limb syndrome (SLS is a rare "focal" variant of stiff person syndrome which presents with rigidity and painful spasms of a distal limb, and abnormal fixed foot or hand postures. Anti-glutamic acid decarboxylase antibodies (GAD-Ab are variably present in most cases. Most reported cases of SLS are unassociated with cancer. We describe a patient with SLS as a paraneoplastic manifestation of breast carcinoma, in whom GAD-Ab was present. The patient responded very well to oral diazepam, baclofen and steroids.This is the third reported case of SLS as a paraneoplastic accompaniment to cancer.

  6. A Case of Leser-Trélat Syndrome Associated with a Renal Cell Carcinoma.

    Science.gov (United States)

    Barth, Dietrich; Puhlmann, Silvio; Barth, Joachim

    2015-01-01

    Seborrheic keratoses can often be found in elderly people. In general, they appear gradually. In cases of a sudden eruption with itching it might be paraneoplastic. Although some authors doubt the existence of the paraneoplastic Leser-Trélat syndrome, we present a case of sudden eruption of seborrheic keratoses connected with a newly diagnosed renal cell carcinoma. As far as we know, this is the first case report of a Leser-Trélat syndrome with a malignancy of the kidney. PMID:26500537

  7. Collecting duct renal cell carcinoma with the syndrome of inappropriate antidiuresis: An autopsy case report

    Directory of Open Access Journals (Sweden)

    Emi Yasuda

    2013-01-01

    Full Text Available A 57-year-old Japanese man visited our hospital with a moist cough. Chest radiographic imaging showed a left hilar shadow. Adenocarcinoma cells were found on cytologic screening of fresh sputum. Although multiple metastases including brain were detected, no tumor was observed in the kidneys. The patient underwent whole-brain irradiation and chemotherapy for advanced-stage lung cancer. One month before his death, carcinomatous meningitis was detected. Hyponatremia, hypo-osmolality, and hypertonic urine suggested the syndrome of inappropriate antidiuresis. Restricting water intake improved the hyponatremia; however, he developed fever and hematuria. Despite systemic administration of an antibacterial drug, he died. Primary tumor in the lung was absent, but adenocarcinoma of the right kidney was evident on autopsy. Lectin histochemical analysis of the carcinoma revealed its distal nephron origin, confirming collecting duct carcinoma. Severe carcinomatous meningitis, which is possibly caused the syndrome of inappropriate antidiuresis, was observed, with no cancer involvement of the pituitary gland and hypothalamus.

  8. Ductal carcinoma In-Situ in turner syndrome patient undergoing hormone replacement therapy: A case report

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    Rashmi Bawa

    2016-03-01

    Full Text Available Turner’s syndrome is a rare congenital disease which affects about 1 in every 2500-3000 live-born females. This happens due to chromosomal abnormalities in a phenotypic female, causing increased gonadotropin concentrations and low concentrations of estrogens from infancy. As a result, hormone replacement therapy is started in most adolescent Turner syndrome patients to initiate and sustain sexual maturation. Accordingly, most Turner’s syndrome patients undergo several decades of estrogen replacement therapy, from puberty to post-menopausal age. The highly publicized findings of the Women’s Health Initiative have called into question the appropriateness of hormone replacement therapy in adolescents with Turner’s syndrome. Those concerns were mostly theoretical extrapolations, as few prospective studies of cancer occurrence in women with Turner syndrome have been reported. Consequently, several recent publications have challenged those extrapolations, based on the assertion that the levels of hormone replacement in Turner syndrome patients are well below the physiologic levels observed in normal menstruating women, as well as the fact that these women are significantly younger than those studied by the Women’s Health Initiative. In discord to those reports, we present a case of ductal carcinoma in-situ in a 40-year-old Turner patient, who had undergone over two decades of combined hormone replacement therapy. The patient underwent an elective excisional biopsy for a palpable mass, with histopathology revealing a complex fibroadenoma with a nidus of ductal carcinoma in-situ. The lesion was noted to be estrogen receptor positive and progesterone receptor negative, with heavy staining for HER-2/Neu receptor. The patient was treated with tamoxifen. While a rare case, it is imperative for the astute clinician to keep in mind the consequences of long-term hormone replacement therapy in Turner’s syndrome patients in order to avoid missed

  9. Acute coronary syndrome: a rare case of multiple endocrine neoplasia syndromes with pheochromocytoma and medullary thyroid carcinoma.

    Science.gov (United States)

    Maloberti, Alessadro; Meani, Paolo; Pirola, Roberto; Varrenti, Marisa; Boniardi, Marco; De Biase, Anna Maria; Vallerio, Paola; Bonacina, Edgardo; Mancia, Giuseppe; Loli, Paola; Giannattasio, Cristina

    2015-09-01

    Pheochromocytoma is a tumor arising from neuroectodermal chromaffin tissues in the adrenal gland or extra-adrenal paraganglia (paragangliomas). The prevalence of the tumor is 0.1%-0.6% in the hypertensive population, of which 10%-20% are malignant. Pheochromocytoma produces, stores, and secretes catecholamines, as well as leads to hypertensive crisis, arrhythmia, angina, and acute myocardial infarction without coronary artery diseases. We report a case of acute coronary syndrome (ACS) with a final diagnosis of multiple endocrine neoplasia with pheochromocytoma and medullary thyroid carcinoma (MTC). PMID:26487970

  10. Acute coronary syndrome: a rare case of multiple endocrine neoplasia syndromes with pheochromocytoma and medullary thyroid carcinoma

    International Nuclear Information System (INIS)

    Pheochromocytoma is a tumor arising from neuroectodermal chromaffin tissues in the adrenal gland or extra-adrenal paraganglia (paragangliomas). The prevalence of the tumor is 0.1%-0.6% in the hypertensive population, of which 10%-20% are malignant. Pheochromocytoma produces, stores, and secretes catecholamines, as well as leads to hypertensive crisis, arrhythmia, angina, and acute myocardial infarction without coronary artery diseases. We report a case of acute coronary syndrome (ACS) with a final diagnosis of multiple endocrine neoplasia with pheochromocytoma and medullary thyroid carcinoma (MTC)

  11. [Colorectal Carcinoma with Suspected Lynch Syndrome: A Multidisciplinary Algorithm].

    Science.gov (United States)

    Schneider, R; Schneider, C; Büttner, R; Reinacher-Schick, A; Tannapfel, A; Fürst, A; Rüschoff, J; Jakobeit, C; Royer-Pokora, B; Möslein, G

    2015-12-01

    Lynch syndrome is the most frequent hereditary cancer syndrome, accounting for approximately 3-5 % of all colorectal cancers. In addition, it is the most frequent predisposing hereditary cause of endometrial cancer and is also associated with gastric cancer, ovarian cancer, cancer of the urinary tract as well as several other cancers. In clinical practise Lynch syndrome is frequently not detected and many clinicians admit uncertainties regarding diagnostic procedures. Also, counselling of patients is considered difficult regarding therapeutic - especially prophylactic surgical and chemopreventive options and recommendations. Based on a review of available literature we discuss optimized strategies for improved detection of suspected Lynch syndrome patients. The aim of this review is to establish a clinical algorithm of how to proceed on a diagnostic level and to discuss surgical options at the time of a colorectal cancer. In order to identify patients with Lynch syndrome, family history should be ascertained and evaluated in regards to fulfilment of the Amsterdam-II- and/or the revised Bethesda criteria. Subsequently immunohistochemical staining for the mismatch-repair-genes, BRAF testing for MLH1 loss of expression, as well as testing for microsatellite instability in some, followed by genetic counselling and mutation analysis when indicated, is recommended. Pathological identification of suspected Lynch syndrome is readily feasible and straightforward. However, the need of performing these analyses in the tumor biopsy at the time of (gastroenterological) diagnosis of CRC neoplasia is essential, in order to offer patients the option of a prophylactically extended surgery and - as recommended in the German S3 guidelines - to discuss the option of a merely prophylactical hysterectomy and oophorectomy (if postmenopausal) in women. Close cooperation between gastroenterologists, pathologists and surgeons is warranted, so that patients may benefit from options of

  12. Elucidation of the mechanism of X-ray induced DNA duplication observed in human Gorlin cells

    International Nuclear Information System (INIS)

    A phenomenon in which DNA synthesis level increases rapidly after x-ray irradiation has found out in the cells which originate in Gorlin patients. A gene, by which an expression level changes after x-ray irradiation, is searched in the human Gorlin cells by the mRNA differential display method. The DNA synthesis level decreases in normal human cell after x-ray irradiation of 2 Gy dose, but increases twice in the Gorlin cell. Expression levels of gene SMT3A, however decrease clearly in the Gorlin cells after the irradiation. The relations between expression levels of gene SMT3M, a protein like ubichitin, and DNA synthesis levels are searched. DNA synthesis activity in normal human cells, which are treated by antisese oligonucleotide and suppressed expression of the genes SMT3A, increases after x-ray irradiation. An increase of the DNA synthesis level after the irradiation is not a phenomenon in particular cells, but indicates the possibility of general phenomena in normal human cells. It is reported that the gene SMT3A combines with a glycosylase which operates in DNA repairing process. The protein modification of gene SMT3A indicates a possibility for controlling of stress protection mechanism in the cells. (M. Suetake)

  13. Successful Treatment in a Case of Massive Hepatocellular Carcinoma with Paraneoplastic Syndrome

    Directory of Open Access Journals (Sweden)

    Atsunori Tsuchiya

    2009-04-01

    Full Text Available Paraneoplastic syndromes of hepatocellular carcinoma (HCC are not uncommon. However, the prognosis is poor and follow-up and improvement of paraneoplastic syndromes with treatment have been reported rarely. We report a successful case in an aged man of a massive HCC with paraneoplastic syndrome, treated by combined intraarterial chemotherapy and hepatic resection. Paraneoplastic syndrome (erythrocytosis and hyperlipidemia was monitored throughout the treatment and erythropoietin (EPO mRNA also was analyzed in the resected liver. The hemoglobin level and serum levels of EPO and total cholesterol (T-cho decreased dramatically with treatment, along with a decrease in serum levels of α-fetoprotein and protein induced by vitamin vitamin K absence II (PIVKA-II. Semiquantitative reverse transcription polymerase chain reaction (RT-PCR revealed that the residual cancer expressed EPO RNA but the nontumor tissue did not. This was a rare case of paraneoplastic syndrome of HCC that was treated successfully. This case indicates that paraneoplastic syndrome reflected tumor progression and that serum levels of both EPO and T-cho might be used as tumor markers.

  14. Primary neuroendocrine carcinoma of thymus: A rare cause of Cushing′s syndrome

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    Arora Raman

    2010-01-01

    Full Text Available Thymomas constitute majority of the thymic neoplasms. In contrast, neuroendocrine tumors (carcinoid and neuroendocrine carcinoma of thymus are extremely rare. Thymic carcinoids may present rarely with Cushing′s syndrome due to the ectopic production of adrenocorticotropic hormone (ACTH. Recognition of this association is imperative for appropriate management of patients. We describe three cases of rare atypical carcinoid tumor (neuroendocrine carcinoma of the thymus. Case 1, of a 26-year-old man presenting with Cushing′s syndrome, case 2 - a 23-year-old female with Cushingoid features, and Case 3 - a 39-year-old man complaining of progressively worsening dyspnea. Computed tomography (CT scans of chest in all three patients revealed anterior mediastinal mass. Excision of tumors and histological examination of the three tumors showed a carcinoid tumor with nuclear pleomorphism, increased mitotic activity and focal necrosis. The features suggested a diagnosis of atypical carcinoid tumor in all the three cases. The tumor cells in Cases 1 and 2 showed focal immunohistochemical staining for ACTH. Atypical carcinoid (neuroendocrine carcinoma, well-differentiated and moderately-differentiated of the thymus is a rare thymic tumor which carries a worse prognosis compared to thymoma and requires aggressive therapy. Hence, an accurate diagnosis is essential.

  15. Rare Association of Anti-Hu Antibody Positive Paraneoplastic Neurological Syndrome and Transitional Cell Bladder Carcinoma

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    S. Lukacs

    2012-01-01

    Full Text Available Introduction. Paraneoplastic encephalomyelitis (PEM and subacute sensory neuronopathy (SSN are remote effects of cancer, usually associated with small-cell lung carcinoma and positive anti-Hu antibody. We describe the rare association of bladder transitional cell carcinoma (TCC with anti-Hu antibody positivity resulting in this paraneoplastic neurological syndrome. Patient. A 76-year-old female presented with bilateral muscle weakness and paraesthesia of the upper and lower limbs in a length-dependent “glove and stocking” distribution. Central nervous system symptoms included cognitive problems, personality change, and truncal ataxia. Case notes and the literature were reviewed. Result. Autoantibody screening was positive for anti-Hu antibody (recently renamed antineuronal nuclear antibody 1, ANNA-1. The diagnosis of PEM and SSN was supported by MRI and lumbar puncture results. A superficial bladder TCC was demonstrated on CT and subsequently confirmed on histology. No other primary neoplasm was found on full-body imaging. The neurological symptoms were considered to be an antibody-mediated paraneoplastic neurological syndrome and improved after resection of the tumour. Discussion. The association of anti-Hu positive paraneoplastic neurological syndrome and TCC has not been described in the literature previously. We emphasize the need for detailed clinical examination and the importance of a multidisciplinary thought process and encourage further awareness of this rare association.

  16. Basal cell nevus syndrome. Presentation of six cases and literature review.

    Science.gov (United States)

    Díaz-Fernández, José María; Infante-Cossío, Pedro; Belmonte-Caro, Rodolfo; Ruiz-Laza, Luis; García-Perla-García, Alberto; Gutiérrez-Pérez, José Luis

    2005-01-01

    Basal cell nevus syndrome, also known as Gorlin-Goltz syndrome, is an autosomal dominant inherited disorder which is characterised by the presence of multiple maxillary keratocysts and facial basal cell carcinomas, along with other less frequent clinical characteristics such us musculo-skeletal disturbances (costal and vertebrae malformations), characteristic facies, neurological (calcification of the cerebral falx, schizophrenia, learning difficulties), skin (cysts, lipomas, fibromas), sight, hormonal, etc. On occasions it can be associated with aggressive basal cell carcinomas and malignant neoplasias, for which early diagnosis and treatment is essential, as well as family detection and genetic counselling. Currently there are new lines of investigation based on biomolecular studies, which aim at identifying the molecules responsible for these cysts and thus allowing an early diagnosis of these patients. In its clinical management and follow up, the odonto-stomatologist, the maxillofacial surgeon and several other medical specialists are involved. In this paper a review of the literature, and six cases of patients affected by multi-systemic and varied clinical expression of basal cell nevus syndrome, are presented. PMID:15800468

  17. Bronchogenic carcinoma in acquired immunodeficiency syndrome - report of two cases; Carcinoma broncogenico na sindrome da imunodeficiencia adquirida - relato de dois casos

    Energy Technology Data Exchange (ETDEWEB)

    Siciliano, Antonio Alexandre de Oliveira [Hospital Universitario Clementino Fraga Filho, Rio de Janeiro, RJ (Brazil). Servico de Radiodiagnostico; Melo, Alessandro Severo Alves de; Marchiori, Edson [Universidade Federal Fluminense, Niteroi, RJ (Brazil). Dept. de Radiologia

    1999-12-01

    The authors report two cases of bronchogenic carcinoma in patients with acquired immunodeficiency syndrome. The first patient, a ee-year-old male, developed a left hilar adenocarcinoma, with spleen and bilateral adrenal metastases. The disease progressed unfavourably, resulting in the patient's death in less than a month. The second patient, a 47-year-old male, developed a large mass in the left upper lobe, with invasion of the thoracic wall and destruction of adjacent ribs. The histopathologic study revealed a non-oat-cell carcinoma. Both patients received palliative treatment since diagnosis was established late in the course of the disease. Recent studies suggest an association between bronchogenic carcinoma and human immunodeficiency virus infection. However, an actual increase in the prevalence of bronchogenic carcinoma in HIV-positive patients remains controversial. (author)

  18. Eaton-Lambert syndrome with small cell carcinoma of the lung

    International Nuclear Information System (INIS)

    A case of Eaton-Lambert syndrome with small cell carcinoma of the lung responding favorably to chemotherapy and radiation was described. The patient, 56-year-old man, began to feel weakness of the upper limbs in 1982 (age 52). His condition deteriorated gradually, followed by weakness of the lower limbs, dysphagia and bilateral ptosis. He was admitted to our hospital in Janualy 1984. We started radiation therapy for the lung mass and his neurological findings improved slightly. In June 1984, he complained of pain in the left elbow accompanied by increased ptosis and weakness in the limbs. The biopsy of left elbow lymphnode revealed the metastasis of intermediate cell type small cell carcinoma of the lung, and the diagnosis of Eaton-Lambert syndrome was confirmed. Metastases were also found at the right parietal bone and cervical lymphnode. We started a combination chemotherapy consisting of ACNU, vincristine, methotrexate and cyclophosphamide, adding prophylactic irradiation to the cranium and metastatic regions. After treatment, the metastases disappeared completely and no abnormal findings were found except for decreased tendon reflexes of the upper limbs. Post-treatment electromyography showed marked reduction of waxing and post-tetanic facilitation. We have intermittently continued a combination chemotherapy for consolidation. The patient is living well 21 months after the distant metastases became apparent, and is showing marked improvement of Eaton-Lambert syndrome through chemotherapy and radiation. We propose that anti-neoplastic treatment is the first choice for the treatment of Eaton-Lambert syndorame associated with small cell carcinoma of long. (J.P.N.)

  19. Ectopic Cushing' syndrome caused by a neuroendocrine carcinoma of the mesentery

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    Petersenn Stephan

    2006-04-01

    Full Text Available Abstract Background ACTH overproduction within the pituitary gland or ectopically leads to hypercortisolism. Here, we report the first case of Cushing' syndrome caused by an ectopic ACTH-secreting neuroendocrine carcinoma of the mesentery. Moreover, diagnostic procedures and pitfalls associated with ectopic ACTH-secreting tumors are demonstrated and discussed. Case presentation A 41 year-old man presented with clinical features and biochemical tests suggestive of ectopic Cushing's syndrome. First, subtotal thyroidectomy was performed without remission of hypercortisolism, because an octreotide scan showed increased activity in the left thyroid gland and an ultrasound revealed nodules in both thyroid lobes one of which was autonomous. In addition, the patient had a 3 mm hypoenhancing lesion of the neurohypophysis and a 1 cm large adrenal tumor. Surgical removal of the pituitary lesion within the posterior lobe did not improve hypercortisolism and we continued to treat the patient with metyrapone to block cortisol production. At 18-months follow-up from initial presentation, we detected an ACTH-producing neuroendocrine carcinoma of the mesentery by using a combination of octreotide scan, computed tomography scan, and positron emission tomography. Intraoperatively, use of a gamma probe after administration of radiolabeled 111In-pentetreotide helped identify the mesenteric neuroendocrine tumor. After removal of this carcinoma, the patient improved clinically. Laboratory testing confirmed remission of hypercortisolism. An octreotide scan 7 months after surgery showed normal results. Conclusion This case underscores the diagnostic challenge in identifying an ectopic ACTH-producing tumor and the pluripotency of cells, in this case of mesenteric cells that can start producing and secreting ACTH. It thereby helps elucidate the pathogenesis of neuroendocrine tumors. This case also suggests that patients with ectopic Cushing's syndrome and an octreotide

  20. Ectopic Cushing' syndrome caused by a neuroendocrine carcinoma of the mesentery

    International Nuclear Information System (INIS)

    ACTH overproduction within the pituitary gland or ectopically leads to hypercortisolism. Here, we report the first case of Cushing' syndrome caused by an ectopic ACTH-secreting neuroendocrine carcinoma of the mesentery. Moreover, diagnostic procedures and pitfalls associated with ectopic ACTH-secreting tumors are demonstrated and discussed. A 41 year-old man presented with clinical features and biochemical tests suggestive of ectopic Cushing's syndrome. First, subtotal thyroidectomy was performed without remission of hypercortisolism, because an octreotide scan showed increased activity in the left thyroid gland and an ultrasound revealed nodules in both thyroid lobes one of which was autonomous. In addition, the patient had a 3 mm hypoenhancing lesion of the neurohypophysis and a 1 cm large adrenal tumor. Surgical removal of the pituitary lesion within the posterior lobe did not improve hypercortisolism and we continued to treat the patient with metyrapone to block cortisol production. At 18-months follow-up from initial presentation, we detected an ACTH-producing neuroendocrine carcinoma of the mesentery by using a combination of octreotide scan, computed tomography scan, and positron emission tomography. Intraoperatively, use of a gamma probe after administration of radiolabeled 111In-pentetreotide helped identify the mesenteric neuroendocrine tumor. After removal of this carcinoma, the patient improved clinically. Laboratory testing confirmed remission of hypercortisolism. An octreotide scan 7 months after surgery showed normal results. This case underscores the diagnostic challenge in identifying an ectopic ACTH-producing tumor and the pluripotency of cells, in this case of mesenteric cells that can start producing and secreting ACTH. It thereby helps elucidate the pathogenesis of neuroendocrine tumors. This case also suggests that patients with ectopic Cushing's syndrome and an octreotide scan positive in atypical locations may benefit from

  1. Destructive, multifocal squamous-cell carcinoma nodules on the cheecks and neck of an elderly woman with a dementia syndrome

    OpenAIRE

    Norma Marigliano; Manuela Colosimo; Marcella Flocco; Francesca Mazzei; Maria V. Sirianni; Domenico Galasso; Luigi Tucci; Francesco Abbonante; Giovanni Ruotolo

    2013-01-01

    Introduction: Squamous-cell carcinoma is the second most common form of skin cancer. It can develop on normal skin, actinic keratoses, leukoplakia, and burn scars. The tumor is characterized by remarkable variability at the macroscopic and histopathologic levels. Case report: A 93-year-old woman was admitted to nursing home with a diagnosis of dementia syndrome and squamous cell nodular carcinoma on cheeks and neck region. The physical examination revealed firm, black excrescences with irregu...

  2. Renal cell carcinoma as a second malignant neoplasm in a patient with non-syndromic hemihypertrophy and previous Wilms tumor

    International Nuclear Information System (INIS)

    Survivors of childhood Wilms tumors are at an increased risk of second malignant neoplasms. Recently, it has been postulated that renal cell carcinoma is among the malignancies for which this population is at risk. We present the unique case of an adult Wilms tumor survivor with non-syndromic hemihypertrophy (NSHH) who developed renal cell carcinoma. This case highlights the need for close follow-up in two populations: adults who have survived Wilms tumor and those with NSHH. (orig.)

  3. Sorafenib induced tumor lysis syndrome in an advanced hepatocellular carcinoma patient

    Institute of Scientific and Technical Information of China (English)

    Wu-Shiung Huang; Chang-Hsu Yang

    2009-01-01

    A 55-year-old male patient with hepatitis B-related liver cirrhosis was found to have advanced hepatocellular carcinoma. His AFP was initially 9828 mg/L and rapidly dropped to 5597 mg/L in ten days after oral sorafenib treatment. However, he developed acute renal failure, hyperkalemia, and hyperuricemia 30 d after receiving the sorafenib treatment. Tumor lysis syndrome was suspected and intensive hemodialysis was performed. Despite intensive hemodialysis and other supportive therapy, he developed multiple organ failure (liver, renal, and respiratory failure) and metabolic acidosis. The patient expired 13 d after admission.

  4. Sorafenib-induced hand-foot syndrome in a patient of renal cell carcinoma

    Directory of Open Access Journals (Sweden)

    Amrita Sil

    2014-01-01

    Full Text Available Sorafenib, a multikinase inhibitor, is approved for treatment of renal cell cancer and hepatocellular cancer. Hand-foot syndrome (HFD is a condition where erythema, scaling, and bullous lesion affect the hand and feet. In this case, a post-nephrectomy renal carcinoma patient prescribed sorafenib developed HFD 1 week after the drug usage. All laboratory parameters were within normal limits. The dose of sorafenib was reduced and topical corticosteroids, antihistamines, and emollients were prescribed. The reaction reduced after 2 weeks of therapy, only to reappear again when the second cycle of sorafenib-targeted therapy was started. The case was diagnosed as sorafenib-induced HFD.

  5. [Endometrial adenocarcinoma and clear cell carcinoma in a young woman with polycystic ovarian syndrome: a case report].

    Science.gov (United States)

    Niu, Jing; Liu, Nan; Liu, Guo-Bing

    2016-05-20

    A 26-year-old unmarried woman with irregular menstruation for 4 years was admitted for an intrauterine space-occupying mass. Pathological examination before surgery showed moderately to poorly differentiated endometrial adenocarcinoma. The patient underwent laparoscopically assisted epifascial panhysterectomy with bilateral salpingo-oophorectomy. Pathological examination of the surgical specimens reported moderately to poorly differentiated endometrial adenocarcinoma and stage II clear cell carcinoma. The patient then received chemotherapy and remained alive without evidence of recurrence. Young women with polycystic ovarian syndrome are at high risk of developing endometrial carcinoma, but concurrent clear cell carcinoma is rare. Careful evaluation before and after treatment are essential to improve the patients prognosis. PMID:27222196

  6. Implications of Von Hippel-Lindau Syndrome and Renal Cell Carcinoma

    Directory of Open Access Journals (Sweden)

    Kenan Ashouri

    2015-09-01

    Full Text Available Von Hippel-Lindau syndrome (VHLS is a rare hereditary neoplastic disorder caused by mutations in the vhl gene leading to the development of tumors in several organs including the central nervous system, pancreas, kidneys, and reproductive organs. Manifestations of VHLS can present at different ages based on the affected organ and subclass of disease. In the subclasses of VHLS that cause renal disease, renal involvement typically begins closer to the end of the second decade of life and can present in different ways ranging from simple cystic lesions to solid tumors. Mutations in vhl are most often associated with clear cell renal carcinoma, the most common type of renal cancer, and also play a major role in sporadic cases of clear cell renal carcinoma. The recurrent, multifocal nature of this disease presents difficult challenges in the long-term management of patients with VHLS. Optimization of renal function warrants the use of several different approaches common to the management of renal carcinoma such as nephron sparing surgery, enucleation, ablation, and targeted therapies. In VHLS, renal lesions of 3 cm or bigger are considered to have metastatic potential and even small lesions often harbor malignancy. Many of the aspects of management revolve around optimizing both oncologic outcome and long-term renal function. As new surgical strategies and targeted therapies develop, the management of this complex disease evolves.  This review will discuss the key aspects of the current management of VHLS.

  7. Interleukin-11-induced capillary leak syndrome in primary hepatic carcinoma patients with thrombocytopenia

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    Li-Rong Shen

    2011-05-01

    Full Text Available Abstract Background Capillary leak syndrome (CLS is a rare condition characterized by recurrent episodes of generalized edema and severe hypotension associated with hypoproteinemia. Interleukin-11 (IL-11 is a promising therapeutic agent for thrombocytopenia. A direct correlation between IL-11 and CLS has never been reported previously, particularly in patients with hepatic carcinoma. Case presentation We describe two cases of CLS after IL-11 administration in two males with thrombocytopenia. Case 1 was a 46-year-old man with recurrence of hepatic carcinoma who was treated with IL-11 (3 mg per day. After four days of therapy, hypotension and hypoproteinemia were detected. The chest X-ray and B ultrasound of the abdomen showed pleural effusion and ascites. IL-11 was then discontinued, fluid resuscitation was performed, and fresh frozen plasma and packed red blood cells were transfused into this patient. The patient had recovered after 19 days of treatment. Case 2 was a 66-year-old man who had undergone radiofrequency ablation (RFA for hepatic carcinoma. He was treated with IL-11 (3 mg per day for thrombocytopenia. After two days of therapy, this patient complained of dyspnea with bilateral edema of the hands. Laboratory values showed hypoproteinemia. IL-11 was stopped and human albumin was transfused at a rate of 10 g per day. On the 4th day, fluid resuscitation was performed. The patient had recovered after treatment for two weeks. Conclusions The detection of IL-11-induced CLS supports the hypothesis that CLS could be a severe side effect of IL-11 treatment in some patients. These two case reports also demonstrate that patients with hepatic carcinoma who experience this rare form of CLS after treatment with IL-11 seem to respond to a therapeutic regimen that involves hydroxyethyl starch, albumin, and diuretic therapy. Liver cancer patients might be more susceptible to CLS because of poor liver function and hypersplenia. In addition, bleeding

  8. Peutz-Jeghers syndrome with small intestinal malignancy and cervical carcinoma

    Institute of Scientific and Technical Information of China (English)

    Lian-Jie Li; Zhi-Qing Wang; Bao-Ping Wu

    2008-01-01

    We report a case of 30-year-old woman with PeutzJeghers syndrome (P.1S).Because of small intestinal obstruction,she received the small intestinal polypectomy in 2001,and the pathological diagnosis was Peutz-Jeghers polyp canceration (mucinous adenocarcinoma,infiltrating full-thickness of the intestine).The patient did not feel uncomfortable after 6 mo of chemotherapy and other management.We kept a follow-up study on her and found that she suffered from cervical cancer in 2007,with a pathological diagnosis of cervical adenosquamous carcinoma.The patient presented with typical features of PJS,but without a family history.The PJS accompanied with both small intestinal and cervical malignancies has not been reported so far in the world.

  9. A clinical perspective of the link between metabolic syndrome and hepatocellular carcinoma

    Directory of Open Access Journals (Sweden)

    Cauchy F

    2015-02-01

    Full Text Available François Cauchy, Jacques BelghitiHPB and Liver Transplantation Unit, Hôpital Beaujon, Assistance Publique-Hôpitaux de Paris, Clichy, FranceAbstract: Metabolic syndrome (MS, which is defined as a constellation of clinico-biological features closely related to insulin-resistance has reached epidemic levels in Western Europe and Northern America. Non-alcoholic fatty liver disease (NAFLD represents the hepatic manifestation of MS. As its incidence parallels that of MS, NAFLD is currently becoming one of the most frequent chronic liver diseases in Western countries. On one hand, MS favors the development of hepatocellular carcinoma (HCC either through NAFLD liver parenchymal alterations (steatosis; steatohepatitis; fibrosis, or in the absence of significant underlying liver parenchyma changes. In this setting, HCC are often diagnosed incidentally, tend to be larger than in patients developing HCC on cirrhosis and therefore frequently require major liver resections. On the other hand, MS patients are at increased risk of both liver-related postoperative complications and increased cardiorespiratory events leading to non-negligible mortality rates following liver surgery. These deleterious effects seem to be related to the existence of impaired liver function even in the absence of severe fibrosis but also higher cardiorespiratory sensitivity in a setting of MS/NAFLD. Hence, specific medical and surgical improvements in the perioperative management of these patients are required. These include complete preoperative cardiorespiratory work-up and the wide use of preoperative liver volume modulation. Finally, the long-term prognosis after curative surgery for MS-related HCC does not seem to be worse than for other HCC occurring on classical chronic liver diseases. This is probably related to less aggressive tumor behavior with lower micro vascular invasion and decreased rates of poorly differentiated lesions. In this setting, several medical therapies

  10. A new mutation of PTCH gene in a Chinese family with nevoid basal cell carcinoma syndrome

    Institute of Scientific and Technical Information of China (English)

    L(U) Yan; ZHU Han-guang; YE Wei-min; ZHANG Ming-bin; HE Di; CHEN Wan-tao

    2008-01-01

    Background Nevoid basal cell carcinoma syndrome(NBCCS)is a rare autosomal dominant disease characterized by a combination of development anomalies and a predisposition to tumour formation.Mutation of patched gene(PTCH),considered the molecular defect of NBCCS,in a Chinese NBCCS family was investigated in this study.Methods Genomic DNA was isolated from blood samples of all 12 members of this family.The mutated PTCH gene was screened by polymerase chain reaction amplification and di rect sequencing.Results A new mutation of 3 bp(GAT deletion)was found in all seven affected members of this family.This mutation caused one aspartate deletion in the fourth transmembrane domain of the PTCH protein located within the sterol sensing domain(SSD).This deletion was not found in any unaffected members of this family nor in 200 controI samples.Conclusions Our findings suggest that one 3-bp deletion in PTCH gene was the cause of nevoid basal cell carcinoma in a Chinese family through affecting the conformation and function of PTCH protein.

  11. Paraneoplastic Syndromes of Hypercalcemia and Leukocytosis Associated with Colonic Metastases from Squamous Cell Carcinoma of the Lung: a Case Report

    Institute of Scientific and Technical Information of China (English)

    Xiangtao Ma; Xu Wang; Liwei Yu; Jing Fu; Shan Wang; Ruyu Du; Zhirong Cui

    2006-01-01

    @@ Lung cancer is the most common cancer-related death in both men and women in the world. Approximately 25% of all cancer deaths are attributable to lung carcinoma. Moreover, about one-half of patients with lung cancer have metastases at the time of initial diagnosis, most frequently of lymph nodes, adrenals, liver, bone and brain.However metastasis to the colon is very rare. Over the past 25 years about 13 cases of symptomatic colonic metastases from lung malignancies of all types have been reported in the literature. Hypercalcemia and leukocytosis are two of the most common paraneoplastic syndromes associated with various malignancies. However, concomitant manifestation of hypercalcemia and leukocytosis are occasionally observed in the same cancer patients. Here, we present a rare case of colonic metastasis from a squamous cell carcinoma of the lung associated with paraneoplastic syndromes of hypercalcemia and leukocytosis.

  12. Thyroid, Renal, and Breast Carcinomas, Chondrosarcoma, Colon Adenomas, and Ganglioneuroma: A New Cancer Syndrome, FAP, or Just Coincidence

    Directory of Open Access Journals (Sweden)

    Ihab Shafek Atta

    2016-01-01

    Full Text Available We are presenting a case associated with papillary thyroid carcinoma, renal cell carcinoma, invasive mammary carcinoma, chondrosarcoma, benign ganglioneuroma, and numerous colon adenomas. The patient had a family history of colon cancer, kidney and bladder cancers, lung cancer, thyroid cancer, leukemia, and throat and mouth cancers. She was diagnosed with colonic villous adenoma at the age of 41 followed by thyroid, renal, and breast cancers and chondrosarcoma at the ages of 48, 64, 71, and 74, respectively. Additionally, we included a table with the most common familial cancer syndromes with one or more benign or malignant tumors diagnosed in our case, namely, FAP, HNPCC, Cowden, Peutz-Jeghers, renal cancer, tuberous sclerosis, VHL, breast/other, breast/ovarian, Carney, Werner’s, Bloom, Li-Fraumeni, xeroderma pigmentosum, ataxia-telangiectasia, osteochondromatosis, retinoblastoma, and MEN2A.

  13. Thyroid, Renal, and Breast Carcinomas, Chondrosarcoma, Colon Adenomas, and Ganglioneuroma: A New Cancer Syndrome, FAP, or Just Coincidence.

    Science.gov (United States)

    Atta, Ihab Shafek; AlQahtani, Fahd Nasser

    2016-01-01

    We are presenting a case associated with papillary thyroid carcinoma, renal cell carcinoma, invasive mammary carcinoma, chondrosarcoma, benign ganglioneuroma, and numerous colon adenomas. The patient had a family history of colon cancer, kidney and bladder cancers, lung cancer, thyroid cancer, leukemia, and throat and mouth cancers. She was diagnosed with colonic villous adenoma at the age of 41 followed by thyroid, renal, and breast cancers and chondrosarcoma at the ages of 48, 64, 71, and 74, respectively. Additionally, we included a table with the most common familial cancer syndromes with one or more benign or malignant tumors diagnosed in our case, namely, FAP, HNPCC, Cowden, Peutz-Jeghers, renal cancer, tuberous sclerosis, VHL, breast/other, breast/ovarian, Carney, Werner's, Bloom, Li-Fraumeni, xeroderma pigmentosum, ataxia-telangiectasia, osteochondromatosis, retinoblastoma, and MEN2A. PMID:27087812

  14. Thyroid, Renal, and Breast Carcinomas, Chondrosarcoma, Colon Adenomas, and Ganglioneuroma: A New Cancer Syndrome, FAP, or Just Coincidence

    Science.gov (United States)

    Atta, Ihab Shafek; AlQahtani, Fahd Nasser

    2016-01-01

    We are presenting a case associated with papillary thyroid carcinoma, renal cell carcinoma, invasive mammary carcinoma, chondrosarcoma, benign ganglioneuroma, and numerous colon adenomas. The patient had a family history of colon cancer, kidney and bladder cancers, lung cancer, thyroid cancer, leukemia, and throat and mouth cancers. She was diagnosed with colonic villous adenoma at the age of 41 followed by thyroid, renal, and breast cancers and chondrosarcoma at the ages of 48, 64, 71, and 74, respectively. Additionally, we included a table with the most common familial cancer syndromes with one or more benign or malignant tumors diagnosed in our case, namely, FAP, HNPCC, Cowden, Peutz-Jeghers, renal cancer, tuberous sclerosis, VHL, breast/other, breast/ovarian, Carney, Werner's, Bloom, Li-Fraumeni, xeroderma pigmentosum, ataxia-telangiectasia, osteochondromatosis, retinoblastoma, and MEN2A. PMID:27087812

  15. Small cell gall bladder carcinoma complicated by syndrome of inappropriate secretion of antidiuretic hormone (SIADH) treated with mozavaptan

    OpenAIRE

    TAMURA, Tetsuo; Takeuchi, Kazuo

    2013-01-01

    Small cell gall bladder carcinoma (Scc-GB) is a very rare entity. Although some cases present with endocrine manifestations, paraneoplastic hyponatraemia has been reported in only one previous case. Recently, the antidiuretic hormone (ADH) receptor antagonist mozavaptan has become available. Herein we report a case with Scc-GB complicated with syndrome of inappropriate secretion of antidiuretic hormone (SIADH) treated with mozavaptan. A 47-year-old woman was referred to our hospital for hypon...

  16. The early history of odontogenic ghost cell lesions: from Thoma to Gorlin.

    Science.gov (United States)

    Ide, Fumio; Kikuchi, Kentaro; Miyazaki, Yuji; Kusama, Kaoru; Saito, Ichiro; Muramatsu, Takashi

    2015-03-01

    To reappraise the early history of odontogenic ghost cell lesions (OGCL), the extensive world literature published from 1838 to 1962 was reviewed. In light of the long history of OGCL, the term "calcifying epithelioma of Malherbe" first appeared in a 1931 French report, and the term "ghost cells" had its origin in two American seminal articles by Thoma and Goldman in 1946. Although Gorlin et al. coined the term "calcifying odontogenic cyst" (COC) in 1962, this type of cyst was initially reported three decades earlier by Rywkind in Russia, and almost concurrently by Blood good in the United States and Sato in Japan. In 1948, Willis provided the initial histological evidence of a peripheral COC in his British pathology textbook. Credit for the earliest clinical presentation of odontoma associated calcifying cystic odontogenic tumor belongs to the American radiology textbook by Thoma in 1917. A Scandinavian journal report published in 1953 by Husted and Pindborg was the first to address a dentinogenic ghost cell tumor, and its peripheral counterpart was originally reported in the Swiss literature 7 years later. The current concept of COC was undoubtedly established by Gorlin et al. but the history of OGCL really started with Thoma's pioneering work about a century ago. PMID:24972654

  17. 代谢综合征与子宫内膜癌%Metabolic Syndrome and Endometrial Carcinoma

    Institute of Scientific and Technical Information of China (English)

    薛凤霞; 牟楠

    2012-01-01

    Metabolic syndrome contains several metabolic disorders with insulin resistance as its pathophysiological basis. Epidemiological studies show that not only metabolic syndrome,but also metabolic syndrome related obesity,diabetes and hypertension which characterized with insulin resistance are all risk factors of endometrial carcinoma. At the state of insulin resistance,circulating insulin levels will increase. As a result,insulin promotes the development of endometrial carcinoma directly through the activation of its signaling pathway and indirectly through the up-regulation of the blood estrogen levels. Moreover,in the development of insulin resistance,the development of endometrial carcinoma is probably promoted simultaneously by some adipocytokines. Taken together,insulin resistance is a bridge related endometrial carcinoma with metabolic syndrome. Treatment targeting insulin resistance may serve as therapeutical purpose for inhibiting the development of metabolic syndrome related endometrial carcinoma.%代谢综合征是多种代谢异常的集合,胰岛素抵抗是其病理生理学基础.流行病学研究显示,不但代谢综合征是胰岛素抵抗的危险因素,并且与代谢综合征相关的肥胖、糖尿病以及高血压等以胰岛素抵抗为共同特征的疾病都是子宫内膜癌的危险因素.胰岛素抵抗形成后,循环中胰岛素水平升高,胰岛素可以直接地通过其信号传导通路的激活以及间接地通过升高雌激素水平而促进子宫内膜癌的发生、发展,并且在胰岛素抵抗形成过程中的某些脂肪因子也有可能同时促进了子宫内膜癌的发生、发展.由此推测,胰岛素抵抗是子宫内膜癌和代谢综合征之间的桥梁,积极控制胰岛素抵抗可能有益于代谢综合征相关的子宫内膜癌的预防和治疗.

  18. Synchronous ovarian and endometrial carcinomas in a patient with Rubinstein-Taybi syndrome: a case report and literature review.

    Science.gov (United States)

    Johannesen, Eric J; Williams, Todd; Miller, Douglas C; Tuller, Erin

    2015-03-01

    Rubinstein-Taybi syndrome is characterized by distinctive facial and limb features and is associated with several types of tumors. A 29-yr-old woman with this syndrome presented with a large, complex ovarian mass. She was subsequently diagnosed with a low-grade serous carcinoma of the ovary and an endometrioid adenocarcinoma of the uterus. Rubinstein-Taybi syndrome is an autosomal dominant, multiple congenital anomalies-mental retardation syndrome. Two genes, CREBBP and EP300, have been found to be associated with this disorder, although some cases do not have an identifiable cause. These genes code for proteins that acetylate histone tails, an epigenetic modification that serves to control transcription. They also serve as cofactors to several transcription factors and modulate p53. Although these patients have a predisposition to benign and malignant neoplasms, no malignant gynecologic neoplasm has been described thus far. Although no significant evidence linking CREBBP and EP300 to gynecologic malignancies has yet been found, some studies have suggested that hypoacetylation of histones may be involved in endometrial and ovarian carcinomas. PMID:25675181

  19. PERIOPERATIVE ANAESTHESIA MANAGEMENT OF A PATIENT WITH CUSHING’S SYNDROME DUE TO ADRENOCORTICAL CARCINOMA: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Mukund

    2014-09-01

    Full Text Available Adrenocortical carcinoma, a rare malignancy is a rare cause of Cushing’s syndrome. Open adrenalectomy, a preferred modality for its treatment has inherent problems of difficult surgical access, bleeding, massive blood transfusion, coagulation defect, pulmonary embolism, large fluid shifts, cardiovascular collapse and postoperative complications. Cushing syndrome also poses challenge to anaesthesiologist in perioperative period, due to presence of hyper-cortisolism, volume overload, hypertension, hyperglycemia, hypokalaemia, difficult airway and difficult ventilation. We report a case of Cushing’s syndrome due to adrenocortical carcinoma in 50 year old female, who was diagnosed by her clinical presentation, blood investigations and radiological reports. During open adrenalectomy, excessive bleeding had occurred as tumour had invaded inferior vena cava. This was successfully managed with crystalloids, colloids, whole blood, fresh frozen plasma, platelet transfusion and vasopressor support. Postoperative management in PACU included mechanical ventilation, anti-hypertensive and steroids. Inferior vena cava invasion by tumour was not there in earlier CT scan images. Inadvertent inferior vena cava invasion by tumour adds not only to surgical difficulty but also to the problems of anaesthesiologist in managing Cushing syndrome. For successful outcome one has to be prepared for such an un-anticipated problem.

  20. Metabolic syndrome is associated with better prognosis in patients with tongue squamous cell carcinoma

    Institute of Scientific and Technical Information of China (English)

    Lan Zou; Tian-Run Liu; and An-Kui Yang

    2015-01-01

    Introduction:Metabolic syndrome (MS) is associated with several cancers, but it is not clear whether MS affects the prognosis of tongue squamous cell carcinoma (TSCC). This study aimed to evaluate the prognostic value of MS in TSCC. Methods:Clinical data from 252 patients with TSCC who were initially treated at the Sun Yat-sen University Cancer Center between April 1998 and June 2011 were collected, and the associations between MS and clinicopathologic factors were retrospectively analyzed. Prognostic outcomes were examined by Kaplan-Meier analysis and Cox regression analysis. Results:Of the 252 patients, 48 were diagnosed with MS. MS was associated with early N category in TSCC (P<0.001). The patients with MS showed longer survival than those without MS (P=0.028). MS was an independent prognostic factor for patients with TSCC. Conclusions:MS is associated with early N category in TSCC. It is an independent prognostic factor for better survival in patients with TSCC.

  1. Budd-Chiari syndrome complicated with hepatocellular carcinoma: a clinical analysis of 36 cases

    International Nuclear Information System (INIS)

    Objective: To investigate the clinical characteristics and related factors of Budd-Chinari syndrome (BCS) complicated with hepatocellular carcinoma (HCC), in order to provide theoretical basis for clinical treatment. Methods: A retrospective study was performed to analyze the imaging diagnoses, laboratory tests and follow-up results after surgery of 36 patients of BCS complicated with HCC. The study patients were selected from 1240 patients with BCS who were hospitalized in authors' hospital during the period from June 1994 to July 2010. Results: BCS with HCC mainly occurred in membranous obstruction of inferior vena cava (MOVC) (33/36), the average age of the onset of the disease was 46.6 years old, and the available life span after interventional or surgical operation was 14∼62 months. The average survival time was 32.5 months. Eight cases who developed HCC after BCS operation had an available life span of 18∼62 months (average 37 months). Twenty-two patients with coexisting BCS and HCC before operation had an available life span of 14∼56 months (average 30.8 months). Conclusion: For the treatment of BCS combined with HCC, TACE or TAI followed by interventional therapy of BCS is recommended. (authors)

  2. Nevoid basal cell carcinoma syndrome:a case report%痣样基底细胞癌综合征

    Institute of Scientific and Technical Information of China (English)

    陈芳; 薛燕宁; 盛珉旻; 闵仲生

    2013-01-01

    报告1例痣样基底细胞癌综合征.患者男,72岁.因全身出现散在褐色皮疹30余年就诊.皮肤科检查:胸腹部、背部、四肢散在数十个粟粒至蚕豆大小、形状不规则的褐色斑块,境界清楚,表面粗糙,轻微隆起.双手掌可见数个黄豆大小界限清楚的红斑.腹部皮损组织病理检查示基底细胞癌.结合临床、组织病理检查结果,诊断为痣样基底细胞癌综合征.%A case of nevoid basal cell carcinoma syndrome is reported. The 72-year-old male patient presented with brown skin rash that had scattered all over his body for more than 30 years. Dermatology examination showed dozens of the brown miliary to bean-sized plaques on the chest, abdomen, back and limbs, which were clearly circumscribed, on the surface and slightly raised, a number of soybean -like erythemas appeared on the palms with clear edges. On the abdomen the histopathological examination revealed basal cell carcinoma. The clinical and histopathological results are consistent with the diagnosis of nevoid basal cell carcinoma syndrome.

  3. Papillary thyroid carcinoma, dermoid cyst and polycystic ovary syndrome: a case report

    International Nuclear Information System (INIS)

    Full text: Total body scintigraphy after the I-131 treatment for thyroid carcinoma is a routine procedure in staging. For smaller tumors uptake outside the neck is seldomly seen, usually benign and without clinical significance. However, a conscientious analysis of there accumulations can be relevant. A 33 year-old female presented in December 1998 with a T2N1M0 papillary thyroid carcinoma. Thyroidectomy, neck dissection and 50 mCi 1-131 treated her. The post-therapy scan was negative except for a small spot in the neck (thyroidremnant: 3.0 %). In September 1999 150 mCi was administered and the scan afterwards showed a focus median in the neck (thyroid remnant: 0.3 %) and a persistent hotspot in the left lower quadrant of the abdomen (figure). The thyreoglobuline was 3.8 μg/l (unchanged to the first I-131 therapy) during maximal TSH Stimulation (174 mu/l). Transvaginal ultrasound revealed an enlarged left ovary which was laparoscopical removed and appeared to be a dermoid cyst with hair- and skincomponents, respiratory epithelia and bone. Only after staining on thyreoglobuline thyroid tissue was demonstrated; there were no signs of malignancy. Six months later a 10 mCi I-131 scintigraphy was negative; thyreoglobuline was < 0.5 μg/l and TSH 161 mg/l suggesting no thyroid tissue was present in the Body. Her medical history showed a polycystic ovary syndrome (PCOS). She received treatment for ovulation induction including clomiphene, HCG, FSH and LH. Her thyroid function was normal. After two miscarriages She gave birth to a daughter. Germ cells must been present since birth to form a dermoid cyst during life. In our patient, the dermoid cyst with benign thyroid cells was visualized only after the second I-131 therapy. We assume that the sensitivity of a scan after 50 mCi and 150 mCi I-131 is equal. Therefore, probably not the ovulation induction medication but the TSH stimulation for the I-131 therapy is the reason for the development of the dermoid cyst. That only

  4. Clinical and pathological features and surgical treatment of Budd-Chiari syndrome-associated hepatocellular carcinoma

    Institute of Scientific and Technical Information of China (English)

    WANG Ya-dong; XUE Huan-zhou; ZHANG Xiao; XU Zong-quan; JIANG Qing-feng; SHEN Quan; YU Miao

    2013-01-01

    Background Budd-Chiari syndrome (BCS) is characterized by liver sinusoidal congestion,ischemic liver cell damage,and liver portal hypertension caused by hepatic venous outflow constriction.The aim of this research was to investigate the clinicopathological features of BCS-associated hepatocellular carcinoma (HCC) and explore its surgical treatment and prognosis.Methods Clinical data from 38 patients with BCS-associated HCC who were surgically treated in our hospital from July 1998 to August 2010 were retrospectively analyzed.The clinicopathological features and prognosis of patients with BCS-associated HCC and surgical treatment for BCS-associated HCC were investigated.Results Compared to the patients with hepatitis B virus (HBV)-associated HCC,the patients with BCS-associated HCC showed a female predominance,and had significantly higher cirrhosis rate,higher incidence of solitary tumors,lower incidence of infiltrative growth,higher proportion of marginal or exogenous growth,lower rate of portal vein invasion,and higher degree of differentiation.Median survival was longer in patients with BCS-associated HCC (76 months) than in those with HBV associated HCC (38 months).Of 38 patients with BCS-associated HCC,22 patients who received combined surgery mainly by liver resection plus cavoatrial shunts exhibited hepatic venous outflow constriction relief,while the other 16 patients only underwent liver resection.The combined surgery group had significantly longer survival and lower incidences of post-operative lethal complications (P <0.05).Multivariate analysis showed that relief of hepatic venous outflow obstruction was a protective factor for survival of patients with BCS-associated HCC,whereas portal vein invasion was a risk factor.Conclusions BCS-associated HCC has a more favorable biological behavior and prognosis than HBV-associated HCC.For patients with BCS-associated HCC,tumor resection accompanied with relief of hepatic venous outflow obstruction can reduce

  5. Translational implication of Kallmann syndrome-1 gene expression in hepatocellular carcinoma.

    Science.gov (United States)

    Tanaka, Yuri; Kanda, Mitsuro; Sugimoto, Hiroyuki; Shimizu, Dai; Sueoka, Satoshi; Takami, Hideki; Ezaka, Kazuhiro; Hashimoto, Ryoji; Okamura, Yukiyasu; Iwata, Naoki; Tanaka, Chie; Yamada, Suguru; Fujii, Tsutomu; Nakayama, Goro; Koike, Masahiko; Nomoto, Shuji; Fujiwara, Michitaka; Kodera, Yasuhiro

    2015-01-01

    Accumulation of epigenetic alterations causes inactivation of tumor suppressors and contributes to the initiation and progression of hepatocellular carcinoma (HCC). Identification of methylated genes is necessary to improve our understanding of the pathogenesis of HCC and develop novel biomarkers and therapeutic targets. The Kallmann syndrome-1 (KAL1) gene encodes an extracellular matrix-related protein with diverse oncological functions. However, the function of KAL1 in HCC has not been examined. We investigated the methylation status of the KAL1 promoter region in HCC cell lines, and evaluated KAL1 mRNA levels and those of genes encoding potential interacting cell adhesion factors. KAL1 mRNA expression level was heterogeneous in nine HCC cell lines, and reactivation of KAL1 mRNA expression was observed in cells with promoter hypermethylation of KAL1 gene after demethylation. In addition, KAL1 mRNA levels inversely correlated with those of ezrin in all nine HCC cell lines. KAL1 expression levels in 144 pairs of surgically-resected tissues were determined and correlated to clinicopathological parameters. KAL1 mRNA level was independent of the background liver status, whereas HCC tissues showed significantly lower KAL1 mRNA levels than corresponding noncancerous liver tissues. Downregulation of KAL1 mRNA in HCC was significantly associated with malignant phenotype characteristics, including elevated tumor markers, larger tumor size, vascular invasion, and hypermethylation of KAL1. Patients with downregulation of KAL1 were more likely to have a shorter overall survival than other patients, and multivariate analysis identified downregulation of KAL1 as an independent prognostic factor (hazard ratio 2.04, 95% confidence interval 1.11-3.90, P=0.022). Our results indicated that KAL1 may act as a putative tumor suppressor in HCC and is inactivated by promoter hypermethylation. KAL1 may serve as a biomarker of malignant phenotype of HCC. PMID:25892360

  6. Acute coronary syndrome:a rare case of multiple endocrine neoplasia syndromes with pheochromocytoma and medullary thyroid carcinoma

    Institute of Scientific and Technical Information of China (English)

    Alessadro Maloberti; Paola Loli; Cristina Giannattasio; Paolo Meani; Roberto Pirola; Marisa Varrenti; Marco Boniardi; Anna Maria De Biase; Paola Vallerio; Edgardo Bonacina; Giuseppe Mancia

    2015-01-01

    Pheochromocytoma is a tumor arising from neuroectodermal chromaffin tissues in the adrenal gland or extra-adrenal paraganglia (paragangliomas). hTe prevalence of the tumor is 0.1%-0.6% in the hypertensive population, of which 10%-20%are malignant. Pheochromocytoma produces, stores, and secretes catecholamines, as well as leads to hypertensive crisis, arrhythmia, angina, and acute myocardial infarction without coronary artery diseases. We report a case of acute coronary syndrome (ACS) with a ifnal diagnosis of multiple endocrine neoplasia with pheochromocytoma and medullary thyroid carcinoma (MTC).

  7. The co-occurrence of an ovarian Sertoli-Leydig cell tumor with a thyroid carcinoma is highly suggestive of a DICER1 syndrome.

    Science.gov (United States)

    Durieux, Emeline; Descotes, Françoise; Mauduit, Claire; Decaussin, Myriam; Guyetant, Serge; Devouassoux-Shisheboran, Mojgan

    2016-05-01

    The DICER1 gene encodes an endoribonuclease involved in the production of mature microRNAs which regulates gene expression through several mechanisms. Carriers of germline DICER1 mutations are predisposed to a rare cancer syndrome, the DICER1 syndrome. Pleuropulmonary blastoma is the most frequent lesion seen in this syndrome. Thyroid abnormalities are also a common finding, essentially concerning multinodular goiter. However, differentiated thyroid carcinoma is infrequently seen in such pedigrees. In addition to germline DICER1 mutations, specific somatic mutations have been identified in the DICER1 RNase IIIb catalytic domain in several tumor types, including ovarian Sertoli-Leydig cell tumors. We report two cases of differentiated thyroid carcinoma associated with ovarian Sertoli-Leydig cell tumor and with a heterozygous DICER1 gene mutation, occurring in two unrelated young girls without pleuropulmonary blastoma. Both thyroid carcinomas showed an E1813 mutation in exon 25 while the ovarian tumors harboured a somatic mutation in E1705 in exon 24 and a D1709 mutation in exon 25. Our observations confirm that the occurrence of an ovarian Sertoli-Leydig cell tumor with a thyroid carcinoma is highly suggestive of a DICER1 syndrome. We contend that the possibility of a relationship between sporadic thyroid carcinoma in young patients and somatic DICER1 gene mutation needs further investigation. PMID:26983701

  8. Jaw cyst-Basal cell nevus-Bifid rib syndrome: A case report

    OpenAIRE

    Rai S; Gauba K

    2007-01-01

    Jaw cyst-Basal cell nevus-Bifid rib syndrome or Gorlin-Goltz syndrome involves multiple organ system. The most common findings include multiple odontogenic keratocysts in the jaws and basal cell nevus on the skin that have an early age onset. These multiple odontogenic keratocysts warrant aggressive treatment at the earliest because of the damage and possible complications associated with them. Recurrence in these lesions is the most characteristic feature that has to be taken in consideratio...

  9. Destructive, multifocal squamous-cell carcinoma nodules on the cheecks and neck of an elderly woman with a dementia syndrome

    Directory of Open Access Journals (Sweden)

    Norma Marigliano

    2013-04-01

    Full Text Available Introduction: Squamous-cell carcinoma is the second most common form of skin cancer. It can develop on normal skin, actinic keratoses, leukoplakia, and burn scars. The tumor is characterized by remarkable variability at the macroscopic and histopathologic levels. Case report: A 93-year-old woman was admitted to nursing home with a diagnosis of dementia syndrome and squamous cell nodular carcinoma on cheeks and neck region. The physical examination revealed firm, black excrescences with irregular surfaces over both cheekbones, which were roughly the size of hazelnuts. Similar nodules were present with ulcers on other areas of the face. The patient was admitted to the day hospital twice for wide excision of the tumors in the zygomatic region. Later, the neck tumors were removed, and the wound was repaired with a rotation flap after careful control of bleeding. For the latter surgery, the patient was hospitalized for a few days in a geriatric ward to ensure optimal medical care and psychological support. The histological examination revealed ulcerated, well-differentiated squamous-cell carcinoma that extended down to the subcutaneous layer. Shortly after surgery, she returned to the nursing home to resume rehabilitation and group therapy.

  10. {gamma}-irradiation deregulates cell cycle control and apoptosis in nevoid basal cell carcinomas syndrome-derived cells

    Energy Technology Data Exchange (ETDEWEB)

    Fujii, Katsunori; Miyashita, Toshiyuki; Yamada, Masao [National Children' s Medical Research Center, Tokyo (Japan); Takanashi, Jun-ichi; Sugita, Katsuo; Kohno, Yoichi; Nishie, Haruko; Yasumoto, Shin-ichiro; Furue, Masutaka

    1999-12-01

    The nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by nevi, palmar and plantar pits, falx calcification, vertebrate anomalies and basal cell carcinomas. It is well known in NBCCS that {gamma}-irradiation to the skin induces basal cell carcinomas or causes an enlargement of the tumor size, although the details of the mechanism remain unknown. We have established lymphoblastoid cell lines from three NBCCS patients, and we present here the first evidence of abnormal cell cycle and apoptosis regulations. A novel mutation (single nucleotide deletion) in the coding region of the human patched gene, PTCH, was identified in two sibling patients, but no apparent abnormalities were detected in the gene of the remaining patient. Nevertheless, the three established cell lines showed similar features in the following analyses. Flow cytometric analyses revealed that the NBCCS-derived cells were accumulated in the G{sub 2}M phase after {gamma}-irradiation, whereas normal cells showed cell cycle arrest both in the G{sub 0}G{sub 1} and G{sub 2}M phases. The fraction of apoptotic cells after {gamma}-irradiation was smaller in the NBCCS cells. The level of p27 expression markedly decreased after {gamma}-irradiation in the NBCCS cells, although the effects of the irradiation on the expression profiles for p53, p21 and Rb did not differ in normal and NBCCS cells. These findings may provide a clue to the molecular mechanisms of tumorigenesis in NBCCS. (author)

  11. Syndrome differentiation in traditional Chinese medicine and E-cadherin/ICAM-1 gene protein expression in gastric carcinoma

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    AIM: To explore the syndrome differentiation in traditional Chinese medicine (TCM) and gene protein expression in gastric carcinoma METHODS: Preoperative data of gastric cancer cases were collected from the General Surgery Department and classified according to the criteria for syndrome differentiation in TCM. E-cadherin (E-cad) and ICAM-1 gene protein expressions were detected in postoperative specimens from these cases by the immunohistochemical EnVision two-step method.RESULTS: The E-cad positive expression rate was 90% in 100 cases of gastric carcinoma. The difference in E-cad expression was significant between thedifferent syndrome differentiation types in TCM (P <0.01). Further group-group comparison showed that there was a significant difference in E-cad expression between the stagnation of phlegm-damp type and the deficiency in both qi and blood and the deficiency-cold of stomach and spleen types, where E-cad expression was high. There was no significant difference between the internal obstruction of stagnant toxin type and the in-coordination between liver and stomach type, where E-cad expression was relatively low. The ICAM-1 positive expression rate was 58%, and there was no statistically significant difference between the two groups (χ2= 8.999,P > 0.05).CONCLUSION: E-cad expression is relatively low in the internal obstruction of stagnant toxin type and the incoordination between liver and stomach type, where tumor development and metastasis may be associated with low E-cad expression, or with low homogeneous adhesiveness between tumor cells.

  12. Síndrome de carcinoma basocelular nevoide con agenesia de cuerpo calloso, mutación en PTCH1 y ausencia de carcinoma basocelular

    OpenAIRE

    Luis D Mazzuoccolo; María Florencia Martínez; Carolina Muchnik; Pablo J. Azurmendi; Fernando Stengel

    2014-01-01

    El síndrome del carcinoma basocelular nevoide (SCBCN) o de Gorlin-Goltz es un raro desorden autosómico dominante con un amplio espectro de manifestaciones clínicas. El signo cardinal es la presencia de múltiples carcinomas basocelulares (CBCs) y su ausencia demora el diagnóstico. Presentamos un adolescente de 14 años con diagnóstico de SCBCN por la presencia de queratoquistes odontogénicos, hiper­telorismo, macrocefalia y agenesia del cuerpo calloso pero sin lesiones cutáneas. La madre, de 43...

  13. Reverse-namaskar: A new sign in Ehlers-Danlos syndrome: A family pedigree study of four generations

    Directory of Open Access Journals (Sweden)

    Premalatha S

    2010-01-01

    Full Text Available Ehlers-Danlos Syndrome (EDS is a rare group of inheritable connective tissue disorder of defective collagen. Skin, joints and blood vessels are most commonly affected. Clinical signs such as Gorlin sign and Metenier sign have been described in this syndrome. We report another new clinical sign called ′Reverse-Namaskar′ sign as an important clinical finding in EDS, based on the family pedigree study of the proband.

  14. Advanced basal cell carcinoma, the hedgehog pathway, and treatment options – role of smoothened inhibitors

    Directory of Open Access Journals (Sweden)

    Fecher LA

    2015-11-01

    Full Text Available Leslie A Fecher,1,3 William H Sharfman2 1Department of Internal Medicine and Dermatology, Indiana University Health Simon Cancer Center, Indianapolis, IN, USA; 2The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, MD, USA, 3Department of Internal Medicine and Dermatology, University of Michigan, MI, USA Abstract: Cutaneous basal cell carcinoma (BCC is the most common human cancer and its incidence is rising worldwide. Ultraviolet radiation exposure, including tanning bed use, as well as host factors play a role in its development. The majority of cases are treated and cured with local therapies including surgery. Yet, the health care costs of diagnosis and treatment of BCCs in the US is substantial. In the United States, the cost of nonmelanoma skin cancer care in the Medicare population is estimated to be US$426 million per year. While rare, locally advanced BCCs that can no longer be controlled with surgery and/or radiation, and metastatic BCCs do occur and can be associated with significant morbidity and mortality. Vismodegib (GDC-0449, a smoothened inhibitor targeted at the hedgehog pathway, is the first US Food and Drug Association (FDA-approved agent in the treatment of locally advanced, unresectable, and metastatic BCCs. This class of agents appears to be changing the survival rates in advanced BCC patients, but appropriate patient selection and monitoring are important. Multidisciplinary assessments are essential for the optimal care and management of these patients. For some patients with locally advanced BCC, treatment with a hedgehog inhibitor may eliminate the need for an excessively disfiguring or morbid surgery. Keywords: basal cell carcinoma, hedgehog, smoothened, vismodegib, Gorlin, basal cell nevus syndrome

  15. Breast Carcinoma Associated with Poland's Syndrome: One Case Report and Literatures Review

    Institute of Scientific and Technical Information of China (English)

    Xin Wang; Liansheng Ning

    2008-01-01

    @@ Introduction Poland's syndrome is a rare congenital anomaly,characterized by abnormalities of the chest wall,breast,spine and upper limb.The incidence of this syndrome has been estimated to be 1:30000.The pathogenesis is still uncleart[1].

  16. Small cell carcinoma of the prostate presenting with Cushing Syndrome. A narrative review of an uncommon condition.

    Science.gov (United States)

    Rueda-Camino, José Antonio; Losada-Vila, Beatriz; De Ancos-Aracil, Cristina Lucía; Rodríguez-Lajusticia, Laura; Tardío, Juan Carlos; Zapatero-Gaviria, Antonio

    2016-06-01

    Small cell carcinoma (SCC) of the prostate is an uncommon condition; there are very few cases in which presenting symptoms are consistent with Cushing Syndrome (CS). We report a new case in which CS triggers the suspicion of an SCC of the prostate and a review of the published cases of SCC of the prostate presenting with CS. The origin of these neoplasms is still unclear. It may be suspected when laboratory features appear in patients diagnosed with prostatic adenocarcinoma which becomes resistant to specific therapy. SCC usually occurs after the 6th decade. Patients suffering SCC of the prostate presenting with CS usually present symptoms such as hypertension, hyperglycemia, alkalosis or hypokalemia; cushingoid phenotype is less frequent. Cortisol and ACTH levels are often high. Prostatic-specific antigen levels are usually normal. CT scan is the preferred imaging test to localize the lesion, but its performance may be improved by adding other tests, such as FDG-PET scan. All patients have metastatic disease at the time of diagnosis. Lymph nodes, liver and bone are the most frequent metastases sites. Surgery and Ketokonazole are the preferred treatments for CS. The prognosis is very poor: 2- and 5-year survival rates are 27.5 and 14.3%, respectively. Key messages When a patient presents with ectopic Cushing Syndrome but lungs are normal, an atypical localization should be suspected. We should suspect a prostatic origin if Cushing Syndrome is accompanied by obstructive inferior urinary tract symptoms or in the setting of a prostatic adenocarcinoma with rapid clinical and radiological progression with relatively low PSA levels. Although no imaging test is preferred to localize these tumors, FDG-PET-TC can be very useful. Hormone marker scintigraphy (e.g. somatostatin) could be used too. As Cushing Syndrome is a paraneoplastic phenomenon, treatment of the underlying disease may help control hypercortisolism manifestations. These tumors are usually metastatic by the

  17. Metastatic squamous cell carcinoma in the neck presenting with Horner syndrome - a cause of the condition not previously described.

    Science.gov (United States)

    Alam, Peyman; Sloane, James; Koraitim, Mohamed; Brennan, Peter A

    2016-07-01

    Horner syndrome, a combination of pupillary miosis, ptosis and facial anhidrosis, results from damage to the oculosympathetic nerve pathways. It can occur anywhere from the hypothalamus to the eye, but to our knowledge, metastatic disease to a node in the neck from a mucosal squamous cell carcinoma (SCC) of the head and neck has not previously been reported as a primary cause in humans. It is surprising that it does not present more often given the frequency of metastatic disease in the neck. We discuss how it may have occurred, and highlight the importance of a thorough examination and investigation of the head and neck in patients who present with unusual neurological signs. PMID:26689637

  18. Cultured diploid fibroblasts from patients with the nevoid basal cell carcinoma syndrome are hypersensitive to killing by ionizing radiation

    International Nuclear Information System (INIS)

    Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disease. About 20% of the gene carriers studied developed medulloblastoma before the age of 5 years. Clinical follow-up of these patients, treated with radiotherapy, revealed a predisposition to radiogenic basal cell carcinomas with an unusually short latent period of 6 months to 3 years. The authors have therefore cultured skin fibroblasts from 5 NBCCS patients and measured their radiosensitivity in terms of clonogenic survival. Our results showed that, compared with 6 normal controls, the NBCCS cells were hypersensitive to X-rays. The average D0 (the inverse of the slope of the survival curve) for the NBCCS cells was 98 rads, compared with 142 rads for the normal controls and 44 rads for an ataxia telangiectasia (AT) strain. The average D10 values (the dose required to reduce survival to 10%) were 258, 351, and 123 rads for the NBCCS, normal, and AT strains, respectively. Unscheduled DNA synthesis measurements showed that NBCCS cells were not defective in excision repair of X-ray-damaged DNA. Pulse labeling index measurements showed that NBCCS cells were abnormally inhibited in the initiation of DNA synthesis following X-irradiation. The mechanisms underlying the radiosensitivity of NBCCS differ in several respects from those of AT. NBCCS appears to be potentially a useful model for studying the cellular processes that are important in radiation carcinogenesis

  19. Acute coronary syndrome: a rare case of multiple endocrine neoplasia syndromes with pheochromocytoma and medullary thyroid carcinoma

    OpenAIRE

    Maloberti, Alessadro; Meani, Paolo; Pirola, Roberto; Varrenti, Marisa; Boniardi, Marco; De Biase, Anna Maria; Vallerio, Paola; Bonacina, Edgardo; Mancia, Giuseppe; Loli, Paola; Giannattasio, Cristina

    2015-01-01

    Pheochromocytoma is a tumor arising from neuroectodermal chromaffin tissues in the adrenal gland or extra-adrenal paraganglia (paragangliomas). The prevalence of the tumor is 0.1%-0.6% in the hypertensive population, of which 10%-20% are malignant. Pheochromocytoma produces, stores, and secretes catecholamines, as well as leads to hypertensive crisis, arrhythmia, angina, and acute myocardial infarction without coronary artery diseases. We report a case of acute coronary syndrome (ACS) with a ...

  20. Superior Vena Cava Syndrome due to Thrombosis: A Rare Paraneoplastic Presentation of Bronchogenic Carcinoma

    Directory of Open Access Journals (Sweden)

    Avradip Santra

    2016-07-01

    Full Text Available Superior vena cava (SVC syndrome is not an uncommon occurrence in patients with malignancy and it is often described as a medical emergency. In majority of the cases, SVC syndrome occurs due to mechanical obstruction of the SVC by extraluminal compression with primary intrathoracic malignancies. However, intraluminal obstruction due to thrombosis can also produce symptoms and signs of SVC syndrome. Clot-related SVC obstruction is mostly associated with indwelling central venous catheter and pacemaker leads, although such thrombosis can occur spontaneously in a background of a hypercoagulable state, e.g., malignancy. Here, an unusual case of sudden onset SVC syndrome has been reported, which on initial radiologic evaluation was found to have a lung nodule without any significant mediastinal mass or adenopathy compressing SVC. Subsequent investigation with Doppler ultrasonography of the neck showed thrombosis in the right internal jugular, right subclavian and right brachiocephalic vein, which was responsible for SVC syndrome. Histopathological evaluation of lung nodule confirmed presence of an adenocarcinoma. Therefore, venous thromboembolism as a paraneoplastic syndrome should be kept in mind while evaluating a case of SVC obstruction in a cancer patient. Management of the underlying disease is of prime importance in such cases and anticoagulation is the mainstay of therapy. Ability to identify paraneoplastic syndrome may have a significant effect on clinical outcome, ranging from early diagnosis to improved quality of life of the patient.

  1. Horner's Syndrome Incidental to Medullary Thyroid Carcinoma Excision: Case Report and Brief Literature Review.

    Science.gov (United States)

    Mastronikolis, Nicholas S; Spiliopoulou, Sofia P; Zolota, Vassiliki; Papadas, Theodoros A

    2016-01-01

    Horner's syndrome is characterized by a combination of ipsilateral miosis, blepharoptosis, enophthalmos, facial anhidrosis, and iris heterochromia in existence of congenital lesions. The syndrome results from a disruption of the ipsilateral sympathetic innervation of the eye and ocular adnexa at different levels. Though rare, thyroid and neck surgery could be considered as possible causes of this clinical entity. We present a case of Horner's syndrome in a patient after total thyroidectomy and neck dissection for medullary thyroid cancer with neck nodal disease and attempt a brief review of the relevant literature. PMID:27200201

  2. Ileocecal Adenocarcinoma and Ureteral Transitional Cell Carcinoma with Multiple Sebaceous Tumors and Keratoacanthomas in a Case of Muir-Torre Syndrome

    Directory of Open Access Journals (Sweden)

    Michael C. Lynch

    2010-01-01

    Full Text Available Cutaneous neoplasms including sebaceous tumors, keratoacanthomas, and basal cell carcinomas with sebaceous differentiation can be markers of internal malignancy associated with the Muir-Torre Syndrome (MTS. We report a 56-year-old man with a diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC and ureteral transitional cell carcinoma who subsequently developed two sebaceous gland neoplasms and several keratoacanthomas, leading to the diagnosis of MTS. Our case highlights the clinical advantages of immunohistochemistry (IHC in identifying mutations in the mismatch repair (MMR genes responsible for both HNPCC and MTS. The importance of continued clinical suspicion in the dermatological assessment of patients with sebaceous neoplasms is emphasized.

  3. Hypercalcemia-leukocytosis syndrome in a patient with cavitating squamous cell carcinoma of the lung

    OpenAIRE

    Burzyantseva, Olga; Dharmasena, Sanath; Jayawardena, Suriya; Rupanagudi, Vijay A; Krishnan, Padmanabhan

    2009-01-01

    Introduction Lung cancer is the leading cause of death among the cancers seen in the United States. Hypercalcemia and leukocytosis are two common paraneoplastic syndromes associated with lung cancer. Unfortunately patients presenting with Hypercalcemia- leukocytosis syndrome has a worse prognosis than patients presenting with lung cancer alone. Case presentation We present a 67 yr old Caucasian male with a history of active smoking presenting as pneumonia being diagnosed as cavitating squamou...

  4. Bilateral symmetrical adrenal hypermetabolism on FDG PET/CT due to Cushing syndrome in well differentiated neuroendocrine carcinoma.

    Science.gov (United States)

    Aktas, G E; Soyluoglu Demir, S; Sarikaya, A

    2016-01-01

    The (18)F-FDG PET/CT scan has been suggested for whole-body imaging to identify ectopic adrenocorticotrophic hormone secreting tumours, but there are some challenges involved. The case of a patient is presented, who was admitted with the pre-diagnosis of ectopic ACTH syndrome. On the CT, a nodular lesion was detected in the medial segment of the right lung. The FDG uptake of the lesion seemed to be increased visually, but was not pathological quantitatively (SUVmax: 1.8) on the PET/CT. There was also diffuse increased uptake (SUVmax: 14.2) in the enlarged adrenal glands. The lesion was reported as a possible malignant lesion with low FDG affinity, such as a low grade neuroendocrine tumour, while the diffuse enlarged adrenal glands with high uptake were interpreted as diffusely hyperplasic, due to Cushing's syndrome. The patient was treated with a surgical wedge resection. The histopathological diagnosis confirmed that the tumour was a grade 1 well-differentiated neuroendocrine carcinoma. PMID:26522002

  5. Diagnostic and pathogenetic role of café-au-lait macules in nevoid basal cell carcinoma syndrome.

    Science.gov (United States)

    Ponti, Giovanni; Tomasi, Aldo; Pastorino, Lorenza; Ruini, Cristel; Guarneri, Carmelo; Mandel, Victor Desmond; Seidenari, Stefania; Pellacani, Giovanni

    2012-01-01

    Café au lait spots (CALS) are common dermatologic findings that can at the same time arise in a variety of pathologic conditions such as Neurofibromatosis type 1 (NF1), together with numerous hereditary syndromes for which they represent either diagnostic criteria or associated elements (McCune Albright, Silver-Russell, LEOPARD, Ataxia-Telangiectasia). A review of the literature also revealed two cases of association with NBCCS. We report here the case of a female proband with CALS associated to Nevoid Basal Cell Carcinoma Syndrome (NBCCS) with known PTCH1 germline mutation (C.1348-2A>G) who had been misdiagnosed with NF1 in her childhood because of 5 CALS and cutaneous nodules. The patient presented a giant cell tumor of the skin, palmar and calcaneal epidermoidal cystic nodules, odontogenic keratocystic tumors and deformity of the jaw profile. Her family history brought both her brother and father to our attention because of the presence of KCOTs diagnosed at early age: after genetic testing, the same PTCH1 germline mutation was identified in the three family members. Clinical criteria are used for discerning NF1 diagnosis (size, number and onset age), while there are no definite guidelines concerning CALS except for their presence. In our experience, we have noted an association of CALS with NBCCS; this seems interesting because we already know clinical criteria are a dynamic entity and can be modified by epidemiologic evidences. PMID:23107377

  6. Diagnostic and pathogenetic role of café-au-lait macules in nevoid basal cell carcinoma syndrome

    Directory of Open Access Journals (Sweden)

    Ponti Giovanni

    2012-10-01

    Full Text Available Abstract Café au lait spots (CALS are common dermatologic findings that can at the same time arise in a variety of pathologic conditions such as Neurofibromatosis type 1 (NF1, together with numerous hereditary syndromes for which they represent either diagnostic criteria or associated elements (McCune Albright, Silver-Russell, LEOPARD, Ataxia-Telangiectasia. A review of the literature also revealed two cases of association with NBCCS. We report here the case of a female proband with CALS associated to Nevoid Basal Cell Carcinoma Syndrome (NBCCS with known PTCH1 germline mutation (C.1348-2A>G who had been misdiagnosed with NF1 in her childhood because of 5 CALS and cutaneous nodules. The patient presented a giant cell tumor of the skin, palmar and calcaneal epidermoidal cystic nodules, odontogenic keratocystic tumors and deformity of the jaw profile. Her family history brought both her brother and father to our attention because of the presence of KCOTs diagnosed at early age: after genetic testing, the same PTCH1 germline mutation was identified in the three family members. Clinical criteria are used for discerning NF1 diagnosis (size, number and onset age, while there are no definite guidelines concerning CALS except for their presence. In our experience, we have noted an association of CALS with NBCCS; this seems interesting because we already know clinical criteria are a dynamic entity and can be modified by epidemiologic evidences.

  7. Hepatocellular carcinoma (Letter to the editor)

    DEFF Research Database (Denmark)

    Békássy, Albert N.; Garwicz, Stanislaw; Jensen, O.A.

    1994-01-01

    Øjenpatologi, Alagill's syndrome, hepatic carcinoma, biliary atresia, histopathology, liver, child, liver cirrhosis, autopsy, eyes, AFP......Øjenpatologi, Alagill's syndrome, hepatic carcinoma, biliary atresia, histopathology, liver, child, liver cirrhosis, autopsy, eyes, AFP...

  8. Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.

    Science.gov (United States)

    Trpkov, Kiril; Hes, Ondrej; Agaimy, Abbas; Bonert, Michael; Martinek, Petr; Magi-Galluzzi, Cristina; Kristiansen, Glen; Lüders, Christine; Nesi, Gabriella; Compérat, Eva; Sibony, Mathilde; Berney, Daniel M; Mehra, Rohit; Brimo, Fadi; Hartmann, Arndt; Husain, Arjumand; Frizzell, Norma; Hills, Kirsten; Maclean, Fiona; Srinivasan, Bhuvana; Gill, Anthony J

    2016-07-01

    Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinomas (RCC) are difficult to diagnose prospectively. We used immunohistochemistry (IHC) to identify fumarate hydratase (FH)-deficient tumors (defined as FH negative, 2-succinocysteine [2SC] positive) in cases diagnosed as "unclassified RCC, high grade or with papillary pattern," or "papillary RCC type 2," from multiple institutions. A total of 124 tumors (from 118 patients) were evaluated by IHC for FH and 2SC. An FH deficiency was found in 24/124 (19%) cases. An indeterminate result (only 1 marker abnormal) was found in 27/124 (22%) cases. In a tissue microarray of 776 RCCs of different types, only 2 (0.5%) tumors, initially considered papillary type 2, were FH deficient. FH mutations were found in 19/21 FH-deficient tumors (with confirmed germline mutations in 9 of 9 tumors in which germline status could be assessed) and in 1/26 FH-indeterminate tumors identified by IHC. No FH mutations were found in 2/21 FH-deficient RCCs, 25/26 FH-indeterminate RCCs, and 10/10 RCCs demonstrating FH expression by IHC. Patients with FH-deficient RCC had a median age of 44 years (range, 21 to 65 y). Average tumor size was 8.2 cm (range, 0.9 to 18 cm). FH-deficient RCCs were characterized by at least focal macronucleoli and demonstrated 2 or more growth patterns in 93% cases. Papillary was the most common (74%) and dominant (59%) pattern, whereas other common patterns included: solid (44%), tubulocystic (41%), cribriform (41%), and cystic (33%). At presentation, 57% were stage ≥pT3, 52% had positive nodes, and 19% had distant metastases. After a mean follow-up of 27 months (range, 1 to 114 mo), 39% of patients were dead of disease, and 26% had disease progression. We conclude that FH and 2SC are useful IHC ancillary tools, which allow recognition of FH-deficient RCC. PMID:26900816

  9. Combination therapies with oxaliplatin and oral capecitabine or intravenous 5-FU show similar toxicity profiles in gastrointestinal carcinoma patients if hand-food syndrome prophylaxis is performed continuously

    OpenAIRE

    Wehler, Thomas C.; Cao, Yang; Peter R. Galle; Theobald, Matthias; Moehler, Markus; Schimanski, Carl C

    2012-01-01

    The use of anticancer drugs in palliative settings is often limited by their severe toxic effects. In gastrointestinal carcinomas the 5-fluorouracil-based palliative regimen FOLFOX-4 is often preferred to the equally effective, but more convenient oral capecitabine-based regimen XELOX. This preference is mainly based on the fact that the highly effective oral agent capecitabine induces hand-foot syndrome (HFS). In this study, we investigated whether the continuous administration of skin proph...

  10. Testicular dysgenesis syndrome and the origin of carcinoma in situ testis

    DEFF Research Database (Denmark)

    Sonne, Si Brask; Kristensen, David Møbjerg; Novotny, Guy W;

    2008-01-01

    Recent increases in male reproductive disorders have been linked to exposure to environmental factors leading to the testicular dysgenesis syndrome (TDS). Testicular cancer is the most severe condition in TDS and studies have shown a clear correlation between risk of testicular cancer and other c...

  11. The association between Lambert–Eaton myasthenic syndrome and small cell lung carcinoma

    OpenAIRE

    Briggs SEW; Gozzard P; Talbot DC

    2013-01-01

    Sarah EW Briggs,1 Paul Gozzard,2 Denis C Talbot31Department of Oncology, Oxford University Hospitals Trust, Churchill Hospital, Oxford, UK; 2Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford UK; 3Department of Oncology, Oxford University Hospitals Trust, Churchill Hospital, Oxford, UKAbstract: Lambert–Eaton myasthenic syndrome (LEMS) is an autoimmune disorder mediated by autoantibodies to voltage-gated calcium channels. The disorder is ...

  12. The association between Lambert–Eaton myasthenic syndrome and small cell lung carcinoma

    OpenAIRE

    Talbot, Denis

    2013-01-01

    Sarah EW Briggs,1 Paul Gozzard,2 Denis C Talbot31Department of Oncology, Oxford University Hospitals Trust, Churchill Hospital, Oxford, UK; 2Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford UK; 3Department of Oncology, Oxford University Hospitals Trust, Churchill Hospital, Oxford, UKAbstract: Lambert–Eaton myasthenic syndrome (LEMS) is an autoimmune disorder mediated by autoantibodies to voltage-gated calcium channels. The disorder...

  13. Birt-Hogg-Dubé syndrome: novel FLCN frameshift deletion in daughter and father with renal cell carcinomas.

    Science.gov (United States)

    Näf, Ernst; Laubscher, Dominik; Hopfer, Helmut; Streit, Markus; Matyas, Gabor

    2016-01-01

    Germline mutation of the FLCN gene causes Birt-Hogg-Dubé syndrome (BHD), a rare autosomal dominant condition characterized by skin fibrofolliculomas, lung cysts, spontaneous pneumothorax and renal tumours. We identified a hitherto unreported pathogenic FLCN frameshift deletion c.563delT (p.Phe188Serfs*35) in a family of a 46-year-old woman presented with macrohematuria due to bilateral chromophobe renal carcinomas. A heritable renal cancer was suspected due to the bilaterality of the tumour and as the father of this woman had suffered from renal cancer. Initially, however, BHD was overlooked by the medical team despite the highly suggestive clinical presentation. We assume that BHD is underdiagnosed, at least partially, due to low awareness of this variable condition and to insufficient use of appropriate genetic testing. Our study indicates that BHD and FLCN testing should be routinely considered in patients with positive family or personal history of renal tumours. In addition, we demonstrate how patients and their families can play a driving role in initiating genetic diagnosis, presymptomatic testing of at-risk relatives, targeted disease management, and genetic counselling of rare diseases such as BHD. PMID:26342594

  14. Is thyroidectomy necessary in RET mutations carriers of the familial medullary thyroid carcinoma syndrome?

    DEFF Research Database (Denmark)

    Hansen, H S; Torring, H; Godballe, C;

    2000-01-01

    BACKGROUND: The results and consequences of genetic testing in a family with familial medullary thyroid carcinoma (FMTC) are described. METHODS: In the screening of relatives, serum calcitonin is replaced by RET mutation analysis that was performed in families suspected of hereditary medullary...... codon 611 mutation and lived without any sign of MTC. One is aged 79 years, and the other died at the age of 71 of other causes. CONCLUSIONS: The results indicate that the gene carrier in families with MTC without other endocrine tumors (FMTC) exhibits a highly variable disease course. A 611 codon...... mutation is most often a rather mild and slow progression form of MTC. Because 2 gene carriers were still alive at age 70 years without showing any sign of the disease, it is tempting to ask if all gene carriers with a 611 codon mutation without other endocrine tumors should be operated on, and if so, at...

  15. Antibodies to nuclear antigens in polymyositis: relationship to autoimmune 'overlap syndromes' and carcinoma.

    OpenAIRE

    Venables, P.J.; Mumford, P A; Maini, R N

    1981-01-01

    Thirty-two patients with polymyositis were categorised into 4 groups: (1) 'pure' polymyositis, (2) dermatomyositis, (3) myositis associated with autoimmune 'overlap syndrome', and (4) those with associated malignancy. Serum from each patient was examined for a range of antinuclear antibodies. Seventeen patients had ANA detected by immunofluorescence, 18 patients had raised DNA binding (greater than 25 U/ml), of whom eight had levels greater than 50 U/ml (SI conversion: U/l = U/ml x 10(3)). An...

  16. Amiodarone Induced Hyponatremia Masquerading as Syndrome of Inappropriate Antidiuretic Hormone Secretion by Anaplastic Carcinoma of Prostate

    Directory of Open Access Journals (Sweden)

    Pinaki Dutta

    2014-01-01

    Full Text Available Syndrome of inappropriate antidiuretic hormone secretion (SIADH is one of the most common causes of hyponatremia. The usual causes are malignancies, central nervous system, pulmonary disorders, and drugs. Amiodarone is a broad spectrum antiarrhythmic agent widely used in the management of arrhythmias. The different side effects include thyroid dysfunction, visual disturbances, pulmonary infiltrates, ataxia, cardiac conduction abnormalities, drug interactions, corneal microdeposits, skin rashes, and gastrointestinal disturbances. SIADH is a rare but lethal side effect of amiodarone. We describe a 62-year-old male who was suffering from advanced prostatic malignancy, taking amiodarone for underlying heart disease. He developed SIADH which was initially thought to be paraneoplastic in etiology, but later histopathology refuted that. This case emphasizes the importance of detailed drug history and the role of immunohistochemistry in establishing the diagnosis and management of hyponatremia due to SIADH.

  17. The association between Lambert–Eaton myasthenic syndrome and small cell lung carcinoma

    Directory of Open Access Journals (Sweden)

    Briggs SEW

    2013-05-01

    Full Text Available Sarah EW Briggs,1 Paul Gozzard,2 Denis C Talbot31Department of Oncology, Oxford University Hospitals Trust, Churchill Hospital, Oxford, UK; 2Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford UK; 3Department of Oncology, Oxford University Hospitals Trust, Churchill Hospital, Oxford, UKAbstract: Lambert–Eaton myasthenic syndrome (LEMS is an autoimmune disorder mediated by autoantibodies to voltage-gated calcium channels. The disorder is diagnosed clinically on the basis of a triad of symptoms (proximal muscle weakness, hyporeflexia, and autonomic disturbance, supported by electrophysiological findings and the presence of autoantibodies. Between 40% and 62% of patients diagnosed with LEMS are found to have small-cell lung cancer (SCLC, almost all of whom develop neurological symptoms before their cancer is diagnosed. Prompt identification of LEMS and appropriate screening for SCLC is key to improving the outcome of both conditions. Here we review the pathophysiology and clinical management of LEMS, focusing particularly on the relationship with SCLC.Keywords: Lambert–Eaton, small-cell lung cancer, autoimmune

  18. Cushing syndrome secondary to a medullary thyroid carcinoma: report of a case and review of the literature = Síndrome de Cushing secundario a carcinoma medular de tiroides: descripción de un caso y revisión de la literatura

    OpenAIRE

    Gutiérrez Restrepo, Johnayro; Castro Martínez, Diva Cristina; Vélez Hoyos, Alejandro; Pérez Cadavid, Juan Camilo

    2014-01-01

    We report the case of a 29-year old female who was evaluated because of a thyroid tumor. The initial pathological classification was an insular thyroid carcinoma. There was strong involvement in the neck, mediastinum and lungs. Three years after receiving specific therapy for her thyroid neoplasia, she developed a Cushing syndrome and liver lesions suggestive of metastases from the primary tumor. A review of the previous pathological material revealed a medullary thyroid carcinoma producing A...

  19. BASAL CELL CARCINOMA WITH ECCRINE DIFFERENTIATION: A RARE ENTITY

    Directory of Open Access Journals (Sweden)

    Divvya

    2014-05-01

    Full Text Available Basal cell carcinoma preferentially occurs in the face where the surgical excision with adequate margin is curative. Sometimes basal cell carcinoma is also reported rarely in other sites especially associated with basal cell carcinoma syndrome. The histological variants are Nodular basal cell carcinoma, Keratotic basal cell carcinoma, Adenoid basal cell carcinoma, Basal cell carcinoma with sebaceous differentiation. Of these variants, Basal cell carcinoma with eccrine differentiation is practically very rare.

  20. BASAL CELL CARCINOMA WITH ECCRINE DIFFERENTIATION: A RARE ENTITY

    OpenAIRE

    Divvya; Rehana; Viswanathan; Krishnaswamy; Anvar Ali

    2014-01-01

    Basal cell carcinoma preferentially occurs in the face where the surgical excision with adequate margin is curative. Sometimes basal cell carcinoma is also reported rarely in other sites especially associated with basal cell carcinoma syndrome. The histological variants are Nodular basal cell carcinoma, Keratotic basal cell carcinoma, Adenoid basal cell carcinoma, Basal cell carcinoma with sebaceous differentiation. Of these variants, Basal cell carcinoma with eccrine differen...

  1. Cushing syndrome secondary to a medullary thyroid carcinoma: report of a case and review of the literature = Síndrome de Cushing secundario a carcinoma medular de tiroides: descripción de un caso y revisión de la literatura

    Directory of Open Access Journals (Sweden)

    Gutiérrez Restrepo, Johnayro

    2014-08-01

    Full Text Available We report the case of a 29-year old female who was evaluated because of a thyroid tumor. The initial pathological classification was an insular thyroid carcinoma. There was strong involvement in the neck, mediastinum and lungs. Three years after receiving specific therapy for her thyroid neoplasia, she developed a Cushing syndrome and liver lesions suggestive of metastases from the primary tumor. A review of the previous pathological material revealed a medullary thyroid carcinoma producing ACTH, instead of the insular carcinoma. Based on this case a review of the literature is presented.

  2. Microscopically controlled surgical excision combined with ultrapulse CO2 vaporization in the management of a patient with the nevoid basal cell carcinoma syndrome.

    Science.gov (United States)

    Krunic, A L; Viehman, G E; Madani, S; Clark, R E

    1998-01-01

    Nevoid basal cell carcinoma syndrome is an autosomal dominant condition characterized by multiple basal cell carcinomas, skeletal abnormalities and sometimes mental retardation. The large number of tumors, which are often disfiguring, presents extreme difficulties in the treatment of these patients. Microscopically controlled excision, compared to other modalities (radiation therapy, photodynamic therapy, intralesional interferon alpha-2b) offers the highest cure rate. However, because of the large size and involvement of wide areas of the skin, this approach is sometimes impractical. The ultrapulse CO2 laser with high energy and short pulses achieves char-free ablation of the tumors, bloodless surgical field, minimal nonspecific thermal damage, rapid healing and diminished postoperative pain. Also, a number of lesions can be removed in a single session. We present a 48-year-old man with a 6.5 x 4.5 cm large basal cell carcinoma involving the anterior abdomen and navel area. The central thick portion of the tumor was resected by microscopically controlled excision with 3 stages, and wide thinner peripheral crescentic plaque vaporized with ultrapulse CO2 laser. The laser settings were 300 mJ energy/pulse and 100 W average power, which corresponds to the fluence of 7.5 J/cm2. Computerized pattern generator (ultrascan handpiece) was adjusted to patterns of 3 (circle) and 1 (square) with sizes varying from 5 to 7, and density of 9 (60% overlapping). The tumor was vaporized with 6 passes, all the way to deep reticular dermis. A fifteen month-follow up disclosed no recurrent disease. Subsequent biopsies revealed only a scar with postinflammatory hyperpigmentation. Our experience indicates that combined treatment with microscopically controlled excision and ultrapulse CO2 laser ablation is a suitable modality for the large tumor plaques involving concave and convex areas of the skin respectively. Microscopically controlled excision of thicker, concave portions of basal

  3. Clinicopathologic Comparison of Lynch Syndrome-associated and "Lynch-like" Endometrial Carcinomas Identified on Universal Screening Using Mismatch Repair Protein Immunohistochemistry.

    Science.gov (United States)

    Mills, Anne M; Sloan, Emily A; Thomas, Martha; Modesitt, Susan C; Stoler, Mark H; Atkins, Kristen A; Moskaluk, Christopher A

    2016-02-01

    Expanded testing for Lynch syndrome (LS) is increasingly recommended for patients with endometrial carcinomas, and immunohistochemistry (IHC) for tumor loss of mismatch-repair (MMR) protein expression is the most common primary screen. This has led to the recognition of MMR-IHC-deficient cases without identifiable mutations on directed germline sequencing. The clinical implications of such "Lynch-like" (LL) cancers are unclear. We here report the clinicopathologic features of putative familial endometrial carcinoma identified on universal MMR-IHC screening with attention to cases with discordant IHC and germline results. The files of the University of Virginia Pathology Department were retrospectively searched for all MMR-deficient endometrial carcinomas identified on screening. Cases were categorized as likely sporadic (MLH1/PMS2 loss, evidence of MLH1 promoter hypermethylation) or putative LS (PLS) (loss of MSH2/MSH6, MSH6, or PMS2). PLS cases were further subdivided into LS and LL groups on the basis of the presence or absence of a confirmatory mutation by germline testing, and the clinicopathologic features of these cases were compared. A deficiency of ≥1 MMR protein was observed in 31.4% (66/210) of endometrial carcinomas, including 26 PLS cases, 15 of which had germline testing. Directed germline sequencing confirmed LS in 46.7% (7/15); the remaining cases were classified as LL. High-grade and/or biphasic morphology was seen in 42.9% (3/7) of LS and 62.5% (5/8) of LL cases; the remaining cases showed low-grade, conventional endometrioid morphology. High level microsatellite instability was observed in 71.4% (5/7) of LL cases. The majority of cases from both groups (LS: 85.7% [6/7]; LL: 87.5% [7/8]) were low-stage (T1a/T1b). Endometrial carcinoma was the presenting malignancy in 85.7% (6/7) of LS patients and 87.5% (7/8) of LL patients. Family history was suggestive of LS in 28.5% (2/7) of LS patients and 12.5% (1/8) of LL patients. Screening algorithms

  4. Synchronous cecal adenocarcinoma and multiple colonic in situ carcinomas in hamartomatous polyps in a case of isolated Peutz–Jeghers syndrome

    Directory of Open Access Journals (Sweden)

    Yahia Z Gad

    2011-03-01

    Full Text Available Yahia Z Gad1, Doaa H Bakr1, Mohammad G El-Ebeidy21Department of Internal Medicine, 2Department of Surgery, Mansoura Specialized Medical Hospital, Mansoura University, Mansoura, EgyptBackground: Peutz–Jeghers syndrome (PJS is a rare autosomal dominant disease characterized by mucocutaneous pigmentation and hamartomatous polyps of the entire gastrointestinal tract. A Peutz–Jeghers polyp (PJP in a patient without pigmentation or a family history of the disease is called an isolated or solitary PJP. Individuals with PJS carry a very high risk of developing gastrointestinal (GI as well as extra-GI malignancies. This case report documents lesion multiplicity and their malignant potential in a young patient with PJS presenting in a serious condition for the first time.Case report: An 18-year-old female Egyptian patient was admitted with hematochezia and remarkable anemia. After appropriate resuscitation and consent, colonoscopic evaluation revealed seven pedunculated colonic polyps at the ascending and the transverse colon, and numerous variable-sized sessile polyps were scattered all over the colon. To establish hemostasis, endoscopic polypectomy for pedunculated polyps and argon plasma photocoagulation for the bleeding sessile polyps were performed. Histopathological examination revealed cecal adenocarcinoma in one specimen and two simultaneous in situ carcinoma at the transverse and the sigmoid colon in the mucosae of the excised histologically proven hamartomatous polyps. Additionally, one focal in situ carcinoma in the resected colon was detected.Conclusions: When considering the family history, serious GI neoplastic lesions may be unmasked in young patients with PJS who present with hematochezia, even in the absence of its characteristic mucocutaneous pigmented lesions. GI endoscopic surveillance programs should be adopted for diagnosed cases of PJS and their families. Genetic prenatal screening for early detection is the best option for

  5. The Greig cephalopolysyndactyly syndrome

    Directory of Open Access Journals (Sweden)

    Biesecker Leslie G

    2008-04-01

    Full Text Available Abstract The Greig cephalopolysyndactyly syndrome (GCPS is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to determine, as ascertainment is erratic (estimated range 1–9/1,000,000. The primary findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. The polydactyly is most commonly preaxial of the feet and postaxial in the hands, with variable cutaneous syndactyly, but the limb findings vary significantly. Other low frequency findings include central nervous system (CNS anomalies, hernias, and cognitive impairment. GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern. The disorder is allelic to the Pallister-Hall syndrome and one form of the acrocallosal syndrome. Clinical diagnosis is challenging because the findings of GCPS are relatively non-specific, and no specific and sensitive clinical have been delineated. For this reason, we have proposed a combined clinical-molecular definition for the syndrome. A presumptive diagnosis of GCPS can be made if the patient has the classic triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, hypertelorism, and macrocephaly. Patients with a phenotype consistent with GCPS (but which may not manifest all three attributes listed above and a GLI3 mutation may be diagnosed definitively with GCPS. In addition, persons with a GCPS-consistent phenotype who are related to a definitively diagnosed family member in a pattern consistent with autosomal dominant inheritance may be diagnosed definitively as well. Antenatal molecular diagnosis is technically straightforward to perform. Differential diagnoses include preaxial polydactyly type 4, the GCPS contiguous gene syndrome, acrocallosal syndrome, Gorlin syndrome, Carpenter syndrome, and Teebi syndrome. Treatment of the disorder is symptomatic, with plastic or

  6. Ovarian Cancer in Hereditary Cancer Susceptibility Syndromes.

    Science.gov (United States)

    Nakonechny, Quentin B; Gilks, C Blake

    2016-06-01

    Hereditary breast and ovarian cancer (HBOC) syndrome and Lynch syndrome (LS) are associated with increased risk of developing ovarian carcinoma. Patients with HBOC have a lifetime risk of up to 50% of developing high-grade serous carcinoma of tube or ovary; patients with LS have a 10% lifetime risk of developing endometrioid or clear cell carcinoma of the ovary. Testing all patients with tubo-ovarian high-grade serous carcinoma for mutations associated with HBOC syndrome, and all patients presenting with endometrioid or clear cell carcinoma of the ovary for mutations associated with LS can identify patients with undiagnosed underlying hereditary cancer susceptibility syndromes. PMID:27241103

  7. Associação de carcinoma broncogênico com síndrome de Pancoast e síndrome da imunodeficiência adquirida Association of bronchogenic carcinoma with Pancoast's syndrome and acquired immunodeficiency syndrome

    Directory of Open Access Journals (Sweden)

    A.C. FRÖHLICH

    2000-09-01

    Full Text Available É relatado o caso de um paciente portador da síndrome de Pancoast associada à síndrome da imunodeficiência adquirida. Esta apresentação é rara, visto que os tumores mais freqüentemente associados à SIDA são o sarcoma de Kaposi e o linfoma não-Hodgkin. O paciente, com passado de uso de drogas injetáveis, internou-se para investigação de massa em ápice pulmonar, com presença de síndrome de Pancoast, sendo solicitado anti-HIV, com resultado positivo, e tendo sido feito diagnóstico de Ca brônquico não-pequenas células.A case of a patient with Pancoast's syndrome associated with acquired immunodeficiency syndrome is reported. This association is rare and Kaposi's sarcoma and non-Hodgkin lymphoma are the most recurrent tumors in AIDS. The patient was an IV drug user and was admitted to the hospital for diagnosis of apex lung mass with signs of Pancoast's syndrome. HIV serology was positive and pathology of lung mass showed non-small cell lung cancer.

  8. Diagnostic and pathogenetic role of café-au-lait macules in nevoid basal cell carcinoma syndrome

    OpenAIRE

    Ponti Giovanni; Tomasi Aldo; Pastorino Lorenza; Ruini Cristel; Guarneri Carmelo; Mandel Victor; Seidenari Stefania; Pellacani Giovanni

    2012-01-01

    Abstract Café au lait spots (CALS) are common dermatologic findings that can at the same time arise in a variety of pathologic conditions such as Neurofibromatosis type 1 (NF1), together with numerous hereditary syndromes for which they represent either diagnostic criteria or associated elements (McCune Albright, Silver-Russell, LEOPARD, Ataxia-Telangiectasia). A review of the literature also revealed two cases of association with NBCCS. We report here the case of a female proband with CALS a...

  9. Comparison of imaging characteristics between hepatic benign regenerative nodules and hepatocellular carcinomas associated with Budd-Chiari syndrome by contrast enhanced ultrasound

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, Ruifang, E-mail: zhangruifang999@hotmail.com [Department of Ultrasound, The First Affiliated Hospital of Zhengzhou University, 1 Eastern Jianshe Road, Zhengzhou, Henan Province 450052 (China); Qin, Shicheng, E-mail: qsc@zzu.edu.cn [Department of Ultrasound, The First Affiliated Hospital of Zhengzhou University, 1 Eastern Jianshe Road, Zhengzhou, Henan Province 450052 (China); Zhou, Yuanyuan, E-mail: yuanyuanzhou288@126.com [Department of Ultrasound, The First Affiliated Hospital of Zhengzhou University, 1 Eastern Jianshe Road, Zhengzhou, Henan Province 450052 (China); Song, Yi, E-mail: twinkle_song@126.com [Department of Ultrasound, The First Affiliated Hospital of Zhengzhou University, 1 Eastern Jianshe Road, Zhengzhou, Henan Province 450052 (China); Sun, Lulu, E-mail: sunluyytr@163.com [Department of Ultrasound, The First Affiliated Hospital of Zhengzhou University, 1 Eastern Jianshe Road, Zhengzhou, Henan Province 450052 (China)

    2012-11-15

    Purpose: To compare different imaging characteristics between hepatic benign regenerative nodules and hepatocellular carcinomas (HCCs) associated with Budd-Chiari syndrome (BCS) by contrast enhanced ultrasound (CEUS). Materials and methods: A total of 32 chronic BCS patients (mean age, 42 years; age range, 18-59 years) with hepatic nodules who underwent CEUS were retrospectively studied. All patients had no the history of viral hepatitis. There were 23 patients with benign regenerative nodules (22 {+-} 9 mm; range, 8-42 mm) and 9 patients with HCCs (63 {+-} 21 mm; range, 26-90 mm). Lesion characteristics, including number, size, vascularization on color Doppler flow imaging, echogenicity, peripheral hypoechoic rim, and enhancement patterns in arterial, portal, and late phases on CEUS, were analyzed. Results: There were significant differences in number and size of the lesions between two groups. No significant differences were observed in vascularity, echogenicity, and peripheral hypoechoic rim. Overall, there were significant differences in enhancement patterns in arterial, portal, and late phases between them on CEUS. Of 23 patients with benign regenerative nodules, 16 (70%) were center-to-periphery hyperenhanced and 7 patients (30%) were homogeneously hyperenhanced in arterial phase; the majority were homogeneously hyperenhanced in portal and late phases. Of 9 patients with HCCs, 8 (89%) were heterogeneously hyperenhanced in arterial phase and most of them were hypoenhanced in portal and late phases. Conclusion: CEUS imaging characteristics of benign regenerative nodules radically differ from that of HCCs in BCS patients.

  10. Intrahepatic cholangiocarcinoma detected by elevated levels of alpha-fetoprotein-L3 after hepatectomy for hepatocellular carcinoma in a patient with Budd-Chiari syndrome.

    Science.gov (United States)

    Yamamoto, Masakazu; Otsubo, Takehito; Ariizumi, Shunichi; Nakano, Masayuki; Takasaki, Ken

    2005-01-01

    We report the case of a 57-year-old woman with Budd-Chiari syndrome, hepatocellular carcinoma (HCC), and intrahepatic cholangiocarcinoma (ICC). She underwent partial hepatectomy for HCC in April 2000. After surgery, alpha-fetoprotein (AFP) and protein induced by vitamin K absence II (PIVKA-II) returned to normal levels, but lens culinaris agglutinin-reactive alpha-fetoprotein (AFP-L3) increased, and ultrasonography showed a nodule 2 cm in greatest dimension in the left lateral segment of the liver. We diagnosed this nodule as recurrence from HCC and performed a partial hepatectomy in October 2001. Microscopic examination showed that tubular adenocarcinoma and immunohistochemical staining was focally positive for AFP. AFP-L3 was 0% and AFP was 5 ng/ml 3 months after re-operation. This case was interesting in that ICC was detected by elevated levels of AFP-L3, and ICC produced AFP from the time it was minute in size. PMID:16119710

  11. Down-regulation of SMT3A gene expression in association with DNA synthesis induction after X-ray irradiation in nevoid basal cell carcinoma syndrome (NBCCS) cells

    International Nuclear Information System (INIS)

    Fibroblast cells derived from nevoid basal carcinoma syndrome (NBCCS) patients show increased levels of DNA synthesis after X-ray irradiation. Genes, whose expression is modulated in association with the DNA synthesis induction, were searched by using PCR-based mRNA differential display analysis in one of the NBCCS cell lines, NBCCS1 cells. Decreased levels of SMT3A gene expression were found in X-ray-irradiated NBCCS1 cells. This decrease was also shown by RT-PCR analysis in another cell line, NBCCS3 cells. In addition to NBCCS cells, normal fibroblast cells showed the DNA synthesis induction after X-ray irradiation when they were treated with antisense oligonucleotides (AO) for SMT3A. However, treatment of normal fibroblasts with the random oligonucleotides (RO) resulted in decreased levels of DNA synthesis after X-ray irradiation. Thus, down-regulation of SMT3A gene expression may be involved in the DNA synthesis induction after X-ray irradiation in the NBCCS cells at least tested

  12. Down-regulation of SMT3A gene expression in association with DNA synthesis induction after X-ray irradiation in nevoid basal cell carcinoma syndrome (NBCCS) cells

    Energy Technology Data Exchange (ETDEWEB)

    Sugaya, Shigeru [Department of Environmental Biochemistry, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba 260-8670 (Japan); Nakanishi, Hiroshi [Department of Clinical Molecular Biology, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba 260-8670 (Japan); Tanzawa, Hideki [Department of Clinical Molecular Biology, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba 260-8670 (Japan); Sugita, Katsuo [Department of Clinical Medicine, Faculty of Education, Chiba University, 1-33 Yayoi, Inage-ku, Chiba 263-8522 (Japan); Kita, Kazuko [Department of Environmental Biochemistry, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba 260-8670 (Japan); Suzuki, Nobuo [Department of Environmental Biochemistry, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba 260-8670 (Japan)]. E-mail: nobuo@faculty.chiba-u.jp

    2005-10-15

    Fibroblast cells derived from nevoid basal carcinoma syndrome (NBCCS) patients show increased levels of DNA synthesis after X-ray irradiation. Genes, whose expression is modulated in association with the DNA synthesis induction, were searched by using PCR-based mRNA differential display analysis in one of the NBCCS cell lines, NBCCS1 cells. Decreased levels of SMT3A gene expression were found in X-ray-irradiated NBCCS1 cells. This decrease was also shown by RT-PCR analysis in another cell line, NBCCS3 cells. In addition to NBCCS cells, normal fibroblast cells showed the DNA synthesis induction after X-ray irradiation when they were treated with antisense oligonucleotides (AO) for SMT3A. However, treatment of normal fibroblasts with the random oligonucleotides (RO) resulted in decreased levels of DNA synthesis after X-ray irradiation. Thus, down-regulation of SMT3A gene expression may be involved in the DNA synthesis induction after X-ray irradiation in the NBCCS cells at least tested.

  13. Ectopic Cushing syndrome

    Science.gov (United States)

    ... tumors of the pancreas Medullary carcinoma of the thyroid Small cell tumors of the lung Tumors of the thymus gland ... syndrome Pancreatic islet cell tumor Pheochromocytoma Rheumatoid arthritis Thyroid cancer - medullary carcinoma Tumor Update Date 10/28/2015 Updated by: Brent ...

  14. Do environmental factors play a role in the aetiology of carcinoma in situ testis and the testicular dysgenesis syndrome?

    DEFF Research Database (Denmark)

    Sonne, S B; Hoei-Hansen, C E; Fisher, J S;

    2004-01-01

    The hypothesis of the Testicular Dysgenesis Syndrome (TDS), first suggested in 2001, propose that several disorders of the male reproductive system such as infertility, hypospadias, cryptorchidism and testicular cancer are all symptoms of TDS, which is most likely initiated during early foetal...... development, and may be provoked by external factors such as endocrine disruptors in addition to genetic predisposition. Testicular germ cell tumours (TGCTs), considered the most severe symptom of TDS, have increased in incidence during the last 60 years, to become the most common malignancy in young...... (DBP) suggesting that ubiquitously present environmental endocrine disruptors may play a role in the aetiology of human TDS. So far, no animal model has been able to mimick all the symptoms of TDS including TGCTs although CIS-like cells have been found in a spontaneous testicular neoplasm in a rabbit....

  15. Hepatocellular carcinoma in Budd-Chiari syndrome: A single center experience with long-term follow-up in South Korea

    Institute of Scientific and Technical Information of China (English)

    Hana Park; Jin Young Yoon; Kyeong Hye Park; Do Young Kim; Sang Hoon Ahn; Kwang-Hyub Han; Chae Yoon Chon; Jun Yong Park

    2012-01-01

    AIM:To evaluate long-term clinical course of BuddChiari syndrome (BCS) and predictive factors associated with the development of hepatocellular carcinoma (HCC)and survival.METHODS:We analyzed 67 patients with BCS between June 1988 and May 2008.The diagnosis of BCS was confirmed by hepatic venous outflow obstruction shown on abdominal ultrasound sonography,computed tomography,magnetic resonance imaging,or venography.The median follow-up period was 103 ± 156 [interquartile range (IQR)] mo.RESULTS:The median age of the patients was 47 ±16 (IQR) years.At diagnosis,54 patients had cirrhosis,25 (37.3%) Child-Pugh class A,23 (34.3%) Child-Pugh class B,and six (9.0%) patients Child-Pugh class C.During the follow-up period,HCC was developed in 17 patients,and the annual incidence of HCC in patients with BCS was 2.8%.Patients in HCC group (n =17)had higher hepatic venous pressure gradient (HVPG)than those in non-HCC group (n =50) (21 ± 12 mmHg vs 14 ± 7 mmHg,P =0.019).The survival rate of BCS patients was 86.2% for 5 years,73.8% for 10 years,and 61.2% for 15 years.In patients with BCS and HCC,survival was 79% for 5 years,43.1% for 10 years,and 21.5% for 15 years.CONCLUSION:The incidence of HCC in patients with BCS was similar to that in patients with other etiologic cirrhosis in South Korea.The HVPG is expected to provide additional information for predicting HCC development in BCS patients.

  16. Combination therapies with oxaliplatin and oral capecitabine or intravenous 5-FU show similar toxicity profiles in gastrointestinal carcinoma patients if hand-food syndrome prophylaxis is performed continuously.

    Science.gov (United States)

    Wehler, Thomas C; Cao, Yang; Galle, Peter R; Theobald, Matthias; Moehler, Markus; Schimanski, Carl C

    2012-06-01

    The use of anticancer drugs in palliative settings is often limited by their severe toxic effects. In gastrointestinal carcinomas the 5-fluorouracil-based palliative regimen FOLFOX-4 is often preferred to the equally effective, but more convenient oral capecitabine-based regimen XELOX. This preference is mainly based on the fact that the highly effective oral agent capecitabine induces hand-foot syndrome (HFS). In this study, we investigated whether the continuous administration of skin prophylaxis (10% urea, panthenol, bisabolol, vitamin A, C and E) is capable of protecting against capecitabine-induced HFS and allowing a more convenient oral therapeutic option. In this retrospective analysis, the toxicity profiles, according to NCI CTCAE 3.0 criteria, of 54 patients with gastrointestinal cancer who received either XELOX (34 patients) or FOLFOX-4 (20 patients) were compared using Fisher tests. The treatment protocols that were compared, herein, did not differ significantly in the majority of the analyzed items, with the exception of increased nausea (XELOX-70), fatigue (XELOX-130) and tumor pain (XELOX-70 and XELOX-130). No significant differences were observed among the various groups with regard to emesis, diarrhea, mucositis, exanthema, alopecia, loss of weight and the incidence of infections. In particular, no significant differences in toxicity levels occurred in terms of dose, and HFS was limited if skin prophylaxis was performed continuously. XELOX-based palliative regimens provide an equally effective and comparably toxic therapeutic alternative to FOLFOX-4 if HFS prophylaxis is performed continuously. Since the oral administration of capecitabine is a more convenient method of application, it provides patients with a quality of life-preserving therapeutic alternative. PMID:22783416

  17. [Preventive radical surgery of C-cell carcinoma in MEN-II syndrome based on genetic screening].

    Science.gov (United States)

    Röher, H D; Simon, D; Goretzki, P E; Höppner, W; Lederbogen, S; Seppel, T

    1995-12-01

    Between April 1986 and July 1995 121 patients have been operated on for C-cell carcinoma with 70 (57.9%) patients presenting a sporadic type and 51 (42.1%) a hereditary type of disease (46/38% MEN IIa and 5/4.1% MEN IIb). Indication for operation in patients with familial disease (MEN II) was in 9 patients (18%) detection of a mutation in the ret protooncogen (group I), in 27 patients (53%) a pathologic biochemical screening (pentagastrin stimulation) (group II), and in 15 patients (29%) the first manifestation in a family (index) (group III). Distribution of stages showed a stage I (T1 N0 M0) in 8/9 (89%) in group I, in 17/27 (63%) in group II, and in 0/15 in group III. In 8 from 9 patients with genetic indication a multifocal microcarcinoma and in one patient a cell-cell hyperplasia could be demonstrated. Accordingly the rate of curative operations with postoperative normalization of basal and pentagastrin stimulated calcitonin levels was 100% (9/9) in group I, 59% (16/27) in group II, and 7% (1/15) in group III. The mean age was 14 (median 12) years in group I, 26 (median 24) years in group II, and 43 (median 40) years in group III). In patients with presymptomatic screening (genetic and biochemical) a thyroidectomy including lymph node dissection of the central compartment was performed as a standard procedure. Postoperative complication rate showed a recurrent nerve palsy of 0 in group I and 4% in group II and a hypoparathyroidism of 0 in group I and 4% in group II. The detection of a mutation correlated with positive histological findings of the disease in all patients. The prophylactic radical operation on the basis of a genetic screening proved to be a safe procedure with curative intention. The early age of manifestation underlines the importance of the genetic screening and the early indication for operation. PMID:8582162

  18. Terapia fotodinâmica para tratamento de múltiplas lesões no couro cabeludo na síndrome do nevobasocelular: relato de caso Photodynamic therapy for treatment of multiple lesions on the scalp in nevoid basal cell carcinoma syndrome: case report

    Directory of Open Access Journals (Sweden)

    Daniela Rezende Neves

    2010-08-01

    Full Text Available A terapia fotodinâmica é uma alternativa eficaz de tratamento para neoplasias cutâneas não melanoma e tem como princípio a utilização de substâncias fotossensibilizantes que, após serem irradiadas com uma fonte de luz de comprimento de onda adequado, destroem seletivamente as células neoplásicas. A Síndrome do Nevobasocelular é uma genodermatose que cursa com o desenvolvimento de inúmeros carcinomas basocelulares em uma idade precoce, submetendo os pacientes a vários procedimentos cirúrgicos, muitas vezes desfigurantes. Este artigo tem como objetivo demonstrar o excelente resultado do tratamento de carcinomas basocelulares no couro cabeludo de uma paciente com a Síndrome do Nevobasocelular.Photodynamic therapy is an effective alternative for the treatment of non-melanoma skin cancer, selectively destroying the neoplastic cells through the use of photosensitizer substances that are irradiated with a source of light of adequate wave length. Nevoid Basal Cell Carcinoma Syndrome is a genodermatosis characterized by multiples basal cell carcinomas occurring at an early age, compelling patients to various surgeries, some of them disfiguring. The aim of this article is to show the excellent result of the treatment of multiple basal cell carcinomas on the scalp of a patient suffering from Nevoid Basal Cell Carcinoma Syndrome.

  19. Resolution of hypercalcemia of malignancy following radical cystectomy in a patient with paraneoplastic syndrome associated with urothelial carcinoma of the bladder

    Directory of Open Access Journals (Sweden)

    Alfredo Harb-De La Rosa

    2015-01-01

    Full Text Available Hypercalcemia of malignancy is a common finding associated with different types of cancers; however, its association with urothelial carcinoma of the bladder is rare. We report a case of a 69-year-old male with nonmetastatic urothelial carcinoma of the bladder who developed hypercalcemia that failed to respond to medical management, but resolved completely after undergoing resection of the tumor through radical cystectomy.

  20. Patienter med basalcellenævussyndrom bør tilbydes tidlig interdisciplinær opfølgning og behandling

    DEFF Research Database (Denmark)

    Bay, Christiane; Ousager, Lilian Bomme; Jelsig, Anne Marie

    2016-01-01

    Basal cell naevus syndrome (Gorlin-Goltz syndrome) is a rare, autosomal dominantly inherited condition with a wide range of developmental and multiple organ-related anomalies. Cardinal features include multiple basal cell carcinomas, jaw cysts, palmoplantar pits and calcification of the falx...... cerebri. Other important clinical features are skeletal abnormalities and facial dysmorphism including macrocephaly. Germ-line mutations are found in PTCH1. Management of the syndrome requires a multidisciplinary approach, and in this article management guidelines are reviewed and discussed....

  1. Early onset sebaceous carcinoma

    Directory of Open Access Journals (Sweden)

    Kaltreider Sara A

    2011-09-01

    Full Text Available Abstract Background Ocular sebaceous carcinoma can masquerade as benign lesions resulting in delay of diagnosis. Early recognition is even more difficult in young patients where the disease rarely occurs. Here, we provide a clinicopathological correlation of ocular sebaceous carcinoma in a young individual lacking history of hereditary cancer or immunosuppression. Findings A detailed histopathological study including p53 DNA sequencing was performed on an aggressive sebaceous carcinoma presenting in a healthy 32 year-old Caucasian woman. She had no history of retinoblastoma, evidence for a hereditary cancer syndrome, or radiation therapy. However, she potentially was at risk for excessive UV light exposure. A detailed review of the literature is also provided. A moderately well differentiated sebaceous carcinoma was established histopathologically arising from the meibomian gland of the upper eyelid. In most areas, the cytoplasm contained small but distinct Oil-red-O positive vacuoles. Direct sequencing of p53 identified a G:C→A:T mutation at a dipyrimidine site. The mutation results in substitution of arginine for the highly conserved glycine at residue 199 located at the p53 dimer-dimer interface. Energy minimization structural modeling predicts that G199R will neutralize negative charges contributed by nearby inter- and intramonomeric glutamate residues. Discussion This study points to the importance of recognizing that sebaceous carcinoma can occur in young patients with no evidence for hereditary cancer risk or radiation therapy. The G199R substitution is anticipated to alter the stability of the p53 tetrameric complex. The role of UV light in the etiology of sebaceous carcinoma deserves further study. Our findings, taken together with those of others, suggest that different environmental factors could lead to the development of sebaceous carcinoma in different patients.

  2. Genetics Home Reference: von Hippel-Lindau syndrome

    Science.gov (United States)

    ... Anderson Cancer Center MedlinePlus Encyclopedia: Pheochromocytoma MedlinePlus Encyclopedia: Renal Cell Carcinoma National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes These ...

  3. Parotid carcinoma

    DEFF Research Database (Denmark)

    Sørensen, Kristine Bjørndal; Godballe, Christian; de Stricker, Karin;

    2006-01-01

    OBJECTIVES: Our aim is to investigate the expression of kit protein (KIT) and epidermal growth factor receptor (EGFR) in parotid carcinomas in order to correlate the expression to histology and prognosis. Further we want to perform mutation analysis of KIT-positive adenoid cystic carcinomas....... PATIENTS AND METHODS: Formalin-fixed paraffin-embedded sections from 73 patients with parotid gland carcinomas were used for the study. The sections were stained with both KIT and EGFR polyclonal antibodies. Twelve KIT-positive adenoid cystic carcinomas were examined for c-kit mutation in codon 816....... RESULTS: Of all carcinomas 25% were KIT-positive and 79% were EGFR-positive. Ninety-two percentage of the adenoid cystic carcinomas were KIT-positive. None of the adenoid cystic carcinomas had mutations in codon 816 of the c-kit gene. CONCLUSION: Neither KIT- nor EGFR-expression seem to harbour...

  4. Oral mucosal stigmata in hereditary-cancer syndromes: From germline mutations to distinctive clinical phenotypes and tailored therapies.

    Science.gov (United States)

    Ponti, Giovanni; Tomasi, Aldo; Manfredini, Marco; Pellacani, Giovanni

    2016-05-10

    Numerous familial tumor syndromes are associated with distinctive oral mucosal findings, which may make possible an early diagnosis as an efficacious marker for the risk of developing visceral malignancies. In detail, Familial Adenomatous Polyposis (FAP), Gardner syndrome, Peutz-Jeghers syndrome, Cowden Syndrome, Gorlin Syndrome, Lynch/Muir-Torre Syndrome and Multiple Endocrine Neoplasia show specific lesions of the oral mucosa and other distinct clinical and molecular features. The common genetic background of the above mentioned syndromes involve germline mutations in tumor suppressor genes, such as APC, PTEN, PTCH1, STK11, RET, clearly implied in both ectodermal and mesodermal differentiation, being the oral mucosal and dental stigmata frequently associated in the specific clinical phenotypes. The oral and maxillofacial manifestations of these syndromes may become visible several years before the intestinal lesions, constituting a clinical marker that is predictive for the development of intestinal polyps and/or other visceral malignancies. A multidisciplinary approach is therefore necessary for both clinical diagnosis and management of the gene-carriers probands and their family members who have to be referred for genetic testing or have to be investigated for the presence of visceral cancers. PMID:26850131

  5. Renal cell carcinoma: Evolving and emerging subtypes.

    Science.gov (United States)

    Crumley, Suzanne M; Divatia, Mukul; Truong, Luan; Shen, Steven; Ayala, Alberto G; Ro, Jae Y

    2013-12-16

    Our knowledge of renal cell carcinoma (RCC) is rapidly expanding. For those who diagnose and treat RCC, it is important to understand the new developments. In recent years, many new renal tumors have been described and defined, and our understanding of the biology and clinical correlates of these tumors is changing. Evolving concepts in Xp11 translocation carcinoma, mucinous tubular and spindle cell carcinoma, multilocular cystic clear cell RCC, and carcinoma associated with neuroblastoma are addressed within this review. Tubulocystic carcinoma, thyroid-like follicular carcinoma of kidney, acquired cystic disease-associated RCC, and clear cell papillary RCC are also described. Finally, candidate entities, including RCC with t(6;11) translocation, hybrid oncocytoma/chromophobe RCC, hereditary leiomyomatosis and RCC syndrome, and renal angiomyoadenomatous tumor are reviewed. Knowledge of these new entities is important for diagnosis, treatment and subsequent prognosis. This review provides a targeted summary of new developments in RCC. PMID:24364021

  6. [REITER'S SYNDROME FOLLOWING INTRAVASICAL BCG THERAPY FOR UROTHELIAL CARCINOMA. SUMMARY OF CASE REPORTS OVER THE PAST 13 YEARS IN JAPAN, INCLUDING OUR CURRENT 6 CASES].

    Science.gov (United States)

    Koike, Mayumi; Natsuyama, Takao; Matsuzaki, Kanako; Yokota, Eisuke; Shiozawa, Shinji; Chiba, Kazuto; Akakura, Koichiro

    2015-10-01

    Reiter's syndrome is one of the rare complications following intravesical bovis Bacillus Calmette-Guerin (BCG) treatment. In this study we have reviewed and discussed 101 cases including our own 6 cases over the past 13 years in Japan (2000-2013). The patients comprised 70 males and 25 females (6 cases were unknown), mean age of 63.1 (range 42 - 91). Arthritis occured 4-5 days after conjunctivitis. Thirty five (55%) of 68 patients needed corticosteroid treatment to control their arthritis. HLA-B27 is known as a risk factor of Reiter's syndrome, however, positive rate was only 2.4% (n = 41). PMID:26717781

  7. Radiation therapy in bronchogenic carcinoma

    International Nuclear Information System (INIS)

    Response of intrathoracic symptoms to thoracic irradiation was evaluated in 330 patients. Superior vena caval syndrome and hemoptysis showed the best response, with rates of 86% and 83%, respectively, compared to 73% for pain in the shoulder and arm and 60% for dyspnea and chest pain. Atelectasis showed re-expansion in only 23% of cases, but this figure increased to 57% for patients with oat-cell carcinoma. Vocal cord paralysis improved in only 6% of cases. Radiation therapy has a definite positive role in providing symptomatic relief for patients with carcinoma of the lung

  8. Basisquamous Carcinoma

    Directory of Open Access Journals (Sweden)

    Yesudian Devakar P

    1997-01-01

    Full Text Available A 50 year old woman presented with an ulceroproliferative mass in the value of 4 month duration. Biopsy of the lesion showed features of a basisquamous cell carcinoma. This is a rare tumour showing histopathological features of both basal cell and squamous cell carcinomas. The clinical, histopathological and histogenetic status of this tumour are discussed.

  9. Site-specific colonic carcinoma in identical twins.

    OpenAIRE

    Whitehead, S.

    1980-01-01

    The development of identically sited carcinomas of the colon in monozygotic twins is described. Presentation occurred with 2 years of each other. They are discussed in the context of the cancer-family syndrome.

  10. Hereditary papillary renal cell carcinoma primarily diagnosed in a cervical lymph node: a case report of a 30-year-old woman with multiple metastases

    OpenAIRE

    Behnes Carl Ludwig; Schlegel Christina; Shoukier Moneef; Magiera Isabella; Henschke Frank; Schwarz Alexander; Bremmer Felix; Loertzer Hagen

    2013-01-01

    Abstract Background Papillary renal cell carcinoma is a rare cancer. Some cases can be attributed to individuals with hereditary renal cell carcinomas usually consisting of the clear cell subtype. In addition, two syndromes with hereditary papillary renal cell carcinoma have been described. One is the hereditary leiomyomatosis and renal cell carcinoma, which is characterized by cutaneous and uterine leiomyomas and renal cell carcinoma mostly consisting of the papillary renal cell carcinoma ty...

  11. Paraneoplastic dermatomyositis as presentation of thymic carcinoma.

    Science.gov (United States)

    Dell'Amore, Andrea; Asadi, Nizar; Caroli, Guido; Dolci, Giampiero; Bini, Alessandro; Stella, Franco

    2013-07-01

    Thymic carcinomas are very rare and heterogeneous groups of anterior mediastinum neoformations with an extremely aggressive behavior. Often, the diagnosis is made in the advanced stages. Paraneoplastic syndromes associated with thymic carcinoma are extremely rare. We report a case of a 64-year-old man presenting with early stage thymic carcinoma which was discovered because of associated paraneoplastic dermatomyositis. The dermatomyositis disappeared completely after radical resection of the tumor. After 20-month follow-up, the patient is in good clinical condition without recidivism of disease. PMID:22907201

  12. Endovascular treatment of superior vena cava syndrome

    DEFF Research Database (Denmark)

    Duvnjak, Stevo; Andersen, Poul Erik

    2011-01-01

    clinically with superior vena cava syndrome and according caval stenosis confirmed by computed tomography. The causes of stenoses were non-small cell carcinoma in 22 patients and small cell carcinoma in 8 patients. RESULTS: In all patients the stents were placed as intended in all patients there was an...

  13. Sebaceous Carcinoma

    Science.gov (United States)

    ... of the Year Award Arnold P. Gold Foundation Humanism in Medicine Award Diversity Mentorship Program Eugene Van ... What causes sebaceous carcinoma? SC is rare, so scientists still have much to learn, including what causes ...

  14. Beals Syndrome

    Science.gov (United States)

    ... Boards & Staff Annual Report & Financials Contact Us Donate Marfan & Related Disorders What is Marfan Syndrome? What are ... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of ...

  15. Hereditary non-BRCA gynecological tumors.

    Science.gov (United States)

    Vellone, Valerio G; Paudice, Michele; Varesco, Liliana

    2016-10-01

    Early diagnosis and proper management of gynecologic malignancies represent a challenge in modern oncology. A growing interest has arisen around the gynecological manifestations of hereditary cancer syndromes. In particular, the discovery of the BRCA1 and BRCA2 genes in ovarian cancer and the mismatch repair genes (MMR) in endometrial carcinoma has revolutionized our approach to the diagnosis and screening of women for ovarian and uterine cancers. The clinical, genetic and pathological features of hereditary cancer syndromes with gynecological manifestations are reviewed focusing on Lynch Syndrome, also known as hereditary nonpolyposis colorectal carcinoma (HNPCC), Peutz-Jeghers Syndrome (PJS), Cowden Syndrome or multiple hamartoma syndrome, Gorlin Syndrome or nevoid basal-cell carcinoma syndrome (NBCCS) and Reed's Syndrome or hereditary leiomyomatosis and renal cell cancer (HLRCC). PMID:26930387

  16. Early recognition of basal cell naevus syndrome

    NARCIS (Netherlands)

    Veenstra-Knol, HE; Scheewe, JH; van der Vlist, GJ; van Doorn, ME; Ausems, MGEM

    2005-01-01

    The basal cell naevus syndrome is an autosomal dominant syndrome characterised by major manifestations such as basal cell carcinomas, jaw cysts, palmar or plantar pits, and intracranial calcifications. Early recognition is important in order to reduce morbidity due to cutaneous and cerebral malignan

  17. A Case with Cowden Syndrome

    Directory of Open Access Journals (Sweden)

    Nehir Parlak

    2015-06-01

    Full Text Available Cowden syndrome is an autosomal dominant rare inherited disorder characterized by multiple hamartomas in variety of tissues from all three embryonic layers. Mucocutaneous lesions like facial trichilemmomas, acral keratoses, papillomatous papules, also macrocephaly and malignancies including breast, tyhroid and endometrial carcinoma are hallmark of the disease. Here we report a 47-year-old male patient with mucucutaneous lesions, gastrointestinal polyposis and macrocephaly diagnosed as Cowden syndrome.

  18. Carcinoma multiplex

    International Nuclear Information System (INIS)

    Multiple primaries in a single patient are uncommon, though not very rare. The existence of such cancers in two un-related, non-paired organs is even more un-common. Here, we present a case of 55 years old male who presented to us with a mucoepidermoid carcinoma of the parotid gland and was operated. Later on, he presented with a large cystic swelling in the pelvis which turned out to be pseudomyxoma peritonei. A review of slides and immunohistochemistry indicated it to be adenocarcinoma colon. He presented again with recurrent mucoepidermoid carcinoma of the parotid which was operated successfully with the use of myocutaneous flap for wound closure. He is currently undergoing chemotherapy. In order to establish a separate mono-clonal etiology of both tumours, immunohistochemistry was performed. To the best of our knowledge, carcinoma multiplex in the colon and the parotid has never been reported before. (author)

  19. Parotid carcinoma

    DEFF Research Database (Denmark)

    Godballe, Christian; Schultz, Joyce H; Krogdahl, Annelise;

    2003-01-01

    OBJECTIVE: To analyze clinical data and possible prognostic factors of patients with primary carcinoma of the parotid gland. STUDY DESIGN: A retrospective study was made of 85 patients with suspected parotid cancer who were admitted to the Center of Head and Neck Oncology at Odense University...... guidelines from the World Health Organization. Five tumors (6%) did not fulfill the criteria of malignancy and were reclassified as benign. In another five cases the assumed primary parotid carcinomas were found to be metastatic disease from cancers of the breast, prostate, skin, and lungs. Ten patients (12...... significant influence on survival. CONCLUSIONS: A thorough histological revision is pivotal in retrospective parotid carcinoma studies, and tumor size; histological appearance; T, N, and M status; stage; facial nerve dysfunction; and pain from the face and/or neck seem to be significant prognostic indicators...

  20. Myasthenic syndromes.

    Science.gov (United States)

    Farrugia, M E

    2011-03-01

    The neuromuscular junction is vulnerable to autoimmune attack both at the pre-synaptic nerve terminal and at the post-synaptic muscle membrane. Antibodies directed to the nicotinic acetylcholine receptor at the muscle surface are the cause of myasthenia gravis in the majority of cases. Myasthenia gravis is an acquired condition, characterised by weakness and fatigability of the skeletal muscles. The ocular muscles are commonly affected first, but the disease often generalises. Treatment includes symptom control and immunosuppression. The thymus gland plays an important role in the pathogenesis of myasthenia gravis and thymectomy is indicated in certain subgroups. Lambert-Eaton myasthenic syndrome is associated with antibodies directed to the voltage-gated calcium channel antibodies at the pre-synaptic nerve terminal. It is an acquired condition and, in some cases, may be paraneoplastic, often secondary to underlying small cell lung carcinoma. Clinical presentation is distinct from myasthenia gravis, with patients often first presenting with lower limb muscle fatigability and autonomic symptoms. Congenital myasthenic syndromes are inherited neuromuscular disorders due to mutations in proteins at the neuromuscular junction. Various phenotypes exist depending on the protein mutation. Treatment is directed towards symptom control and immunosuppression is not indicated. PMID:21365067

  1. Lynch syndrome: still not a familiar picture

    OpenAIRE

    Hes Frederik J

    2008-01-01

    Abstract Background Germ line mutations in mismatch repair genes underlie Lynch syndrome and predispose carriers for colorectal carcinoma and malignancies in many other organ systems. Case presentation A large Lynch syndrome family with 15 affected family members and involvement in 7 organs is reported. It illustrates a lack of awareness and knowledge about this hereditary tumor syndrome among doctors as well as patients. None of the described family members underwent presymptomatic screening...

  2. Carcinoma vulvar

    Directory of Open Access Journals (Sweden)

    Yamit Peñas Zayas

    2015-11-01

    Full Text Available El carcinoma de la vulva tiene una incidencia de aproximadamente un 3-5% dentro de todas las enfermedades ginecológicas malignas. El 90% de los tumores malignos de la vulva está constituido por carcinoma epidermoide, el resto son adenocarcinomas, carcinomas de células basales y melanomas. Se realiza la presentación de un caso de una paciente femenina de 25 años de edad con antecedentes  de Diabetes Mellitus tipo II y trombopatia, que ingresa en el servicio de ginecología con un cuadro cutáneo polimorfo, localizado en labios mayores y menores, dado por lesiones eritematoerosivas y vegetante, sospechándose clínicamente el diagnóstico  de un carcinoma epidermoide, corroborándose el mismo histológicamente al realizarse biopsia de piel. Se indicó tratamiento con quimioterapia. Por la edad de la paciente y ser menos frecuente en mucosa que en la piel,  motivo la presentación del caso.

  3. Parathyroid carcinoma

    DEFF Research Database (Denmark)

    Qvist, N; Krøll, L; Ladefoged, C;

    1986-01-01

    Parathyroid carcinoma is a slow growing tumor, and the patients most often die from complications to the hypercalcemia. Therefore, any attempt should be made to remove local recurrence and metastasis surgically, as medical treatment is disappointing. A case treated with extensive vascular surgery...

  4. Antiphospholipid Syndrome

    Science.gov (United States)

    ... Awards Enhancing Diversity Find People About NINDS NINDS Antiphospholipid Syndrome Information Page Synonym(s): Hughes Syndrome Table of Contents ( ... research is being done? Clinical Trials What is Antiphospholipid Syndrome? Antiphospholipid syndrome (APS) is an autoimmune disorder caused ...

  5. Síndrome de carcinoma basocelular nevoide con agenesia de cuerpo calloso, mutación en PTCH1 y ausencia de carcinoma basocelular

    Directory of Open Access Journals (Sweden)

    Luis D Mazzuoccolo

    2014-08-01

    Full Text Available El síndrome del carcinoma basocelular nevoide (SCBCN o de Gorlin-Goltz es un raro desorden autosómico dominante con un amplio espectro de manifestaciones clínicas. El signo cardinal es la presencia de múltiples carcinomas basocelulares (CBCs y su ausencia demora el diagnóstico. Presentamos un adolescente de 14 años con diagnóstico de SCBCN por la presencia de queratoquistes odontogénicos, hiper­telorismo, macrocefalia y agenesia del cuerpo calloso pero sin lesiones cutáneas. La madre, de 43 años, tiene diagnóstico de SCBCN y no presenta CBCs. Para completar el estudio se realizó secuenciación bidireccional y Multiplex Ligation dependent Probe Amplification (MLPA en sangre periférica para buscar mutaciones en PTCH1, principal gen responsable del síndrome. Se encontró una mutación germinal novel en el paciente y la madre: una duplicación de 25 pb en el exón 10 (c.1375dupl25bp. El análisis bioinformático predijo un corrimiento del marco de lectura y un codón stop prematuro, que produciría una proteína trunca más corta que lo normal. Nuestros resultados sugieren que el estudio clínico y genealógico completo con análisis genético es fundamental para la detección temprana de casos como el presente.

  6. Medullary carcinoma of thyroid

    Science.gov (United States)

    Thyroid - medullary carcinoma; Cancer - thyroid (medullary carcinoma); MTC ... The cause of medullary carcinoma of the thyroid (MTC) is unknown. Unlike other types of thyroid cancer, MTC is less likely to be caused by radiation therapy to the neck given ...

  7. Basal Cell Carcinoma (BCC)

    Science.gov (United States)

    ... epithelioma, is the most common form of skin cancer. Basal cell carcinoma usually occurs on sun-damaged skin, especially ... other health issues. Infiltrating or morpheaform basal cell carcinomas: Infiltrating basal cell carcinomas can be more aggressive and locally destructive ...

  8. Horner's syndrome and thyroid neoplasms.

    Science.gov (United States)

    Leuchter, Igor; Becker, Minerva; Mickel, Robert; Dulguerov, Pavel

    2002-01-01

    Although thyroid goiter is a common condition, it rarely results in Horner's syndrome. We report a case of a patient with an intrathoracic multinodular goiter complicated by Horner's syndrome. Benign thyroid disease was confirmed pathologically, and the patient's symptoms improved after surgery. In the literature, the major cause of Horner's syndrome is neoplasia, with malignant lesions being twice as frequent as benign tumors. An extensive review of the literature demonstrates a different repartition for thyroid neoplasia: including our case, 38 cases of Horner's syndrome secondary to a benign thyroid tumor are described, against only 8 cases caused by a thyroid carcinoma. We conclude that contrary to the commonly held opinion, Horner's syndrome is more often due to benign thyroid diseases than to thyroid malignancies. PMID:11891400

  9. Renal cell carcinoma presenting as mandibular metastasis

    Directory of Open Access Journals (Sweden)

    Hassan Ahmadnia

    2013-01-01

    Full Text Available Renal clear cell carcinoma (RCC has different manifestations, including uncommon metastasis and paraneoplastic syndromes. Here we report a rare case of RCC presenting as metastasis to the mandible. A 57-year-old patient with mandibular swelling was referred to the dentist. After necessary evaluations, an incisional biopsy of mandible showed metastatic RCC. The patient was referred to the urologist. The patient underwent right radical nephrectomy. Pathological examination showed clear renal cell carcinoma. Every abnormal bone lesion in the oral cavity should be evaluated carefully and the possibility of a malignant lesion should always be considered.

  10. Basal Cell Carcinoma in a Child

    OpenAIRE

    Samet Vasfi Kuvat; Zuhal Gücin; Barış Keklik; Gülzade Özyalvaçlı; Karaca Başaran

    2011-01-01

    Basal cell carcinoma is the most commonly seen nonmelanoma skin cancer which is rarely encountered in the childhood period. An 11-year old child was admitted to our clinic due to an erythematous and a slightly pigmented lesion with a 3 × 4 cm diameter on his posterior scalp. Macroscopically, the lesion was excised with a 10 mm safety margin. Pathologic examination revealed a basal cell carcinoma. No symptoms or signs of a syndrome were observed both in the patient and his family.

  11. Thyroid carcinoma

    International Nuclear Information System (INIS)

    Differentiated thyroid carcinoma was studied with regard to mode of presentation, initial findings, treatment and survival. The classic signs, symptoms, physical and scan findings were found to be present in approximately 70% of the patients. Prognosis was found to be dependent on age of presentation more than any other factor. Patients with prior exposure to radiation were found to have more extensive disease and require more extensive surgery but ultimately had the same prognosis for 15-year cure. Treatment for distant metastatic disease by surgery, radioactive iodine and external radiation all resulted in long-term survival in certain cases

  12. Carcinoma verrugoso

    Directory of Open Access Journals (Sweden)

    Esteban Quesada Jiménez

    2004-09-01

    Full Text Available Se presenta el caso de un paciente masculino de 76 años, vecino de Turrialba, agricultor, que consultó por una lesión de 3 años de evolución, localizada en la palma de la mano derecha a nivel palmar y compromiso de los dedos de la misma mano, caracterizada como una neoformación exofítica verrugosa de 5 por 11 cm. aproximadamente, con material caseoso entre sus crestas. La lesión ha estado creciendo de forma acelerada en los últimos 3 meses, causándole dolor y que le imposibilita ellaborar. Se le realizaron exámenes y se descartaron varias causas infecciosas, y concluyendo luego de varias biopsias con el diagnóstico de un carcinoma verrugoso. El paciente fue tratado mediante una amputación parcial de la mano. Este tumor es una variante del carcinoma epidermoide y presentamos su clasificación, patogénesis, histopatología, manifestaciones clínicas más frecuentes y diagnóstico diferencial.

  13. Chromophobe Renal Cell Carcinoma

    OpenAIRE

    Jyotsna Vijaykumar Wader; Sujata S Kumbhar; Huddedar AD; Wasim GM Khatib

    2013-01-01

    Renal cell carcinoma is the most common neoplasm of the kidney comprised of different histological variants. Chromophobe renal cell carcinoma (ChRCC) is a rare subtype of renal cell carcinoma (RCC) mainly diagnosed in the sixth decade of life. It is important to identify this entity because it has significantly better prognosis than the clear cell (conventional) and papillary renal cell carcinomas. The chromophobe renal cell carcinoma should be differentiated from oncocytoma and clear cell ca...

  14. Joubert Syndrome

    Science.gov (United States)

    ... Awards Enhancing Diversity Find People About NINDS NINDS Joubert Syndrome Information Page Table of Contents (click to ... Organizations Related NINDS Publications and Information What is Joubert Syndrome? Joubert syndrome is a rare brain malformation ...

  15. Marfan Syndrome

    Science.gov (United States)

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, ... fibrillin. A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, ...

  16. Vulvar carcinoma

    International Nuclear Information System (INIS)

    Purpose: Controversies exist regarding the use of radiation therapy in the treatment of vulvar carcinoma. A retrospective review was performed to evaluate our institution's experience with surgery and radiation for this disease. Methods and Materials: The medical records of 47 patients treated for squamous cell carcinoma of the vulva at our institution (1974-1992) were reviewed for TNM stage (AJCC criteria), treatment modality, and associated 5-year local control and survival based on Kaplan-Meier analysis. Results: Twenty-eight patients (60%) presented with Stage I and II disease and their 5-year survival was 69%. Stage III patients accounted for 12 (25%) of the patients and their 5-year survival was 73%. Seven patients presented with Stage IV disease and five died within 13 months of diagnosis after predominantly palliative therapy. The 40 patients with Stages I, II, and III disease were treated aggressively and were further evaluated for treatment-modality-associated survival and local control. Radiation therapy was used as primary treatment in nine patients, of whom seven were treated with radiation alone and two were treated postoperatively after wide excision. Surgery alone was performed in 31 patients consisting of either radical vulvectomy (20 patients) or wide excision (11 patients). When comparing outcomes of radical vulvectomy vs. radiation therapy, we noted that the 5-year actuarial survivals were comparable (74% for either modality), despite the presence of more favorable prognostic factors in the group treated with radical vulvectomy. Patients treated with wide excision alone had a trend for a poorer 5-year actuarial survival (51%) and local control (50%). Conclusions: Radical vulvectomy offers good locoregional control and survival. This retrospective review further supports the use of radiation therapy with conservative surgery as an alternative treatment option for patients with vulvar carcinoma treated with curative intent. In contrast, the use of

  17. Hereditary leiomyomatosis and renal cell carcinoma

    OpenAIRE

    Schmidt LS; Linehan WM

    2014-01-01

    Laura S Schmidt,1,2 W Marston Linehan11Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA; 2Basic Science Program, Leidos Biomedical Research Inc., Frederick National Laboratory for Cancer Research, Frederick, MD, USAAbstract: Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal-dominant hereditary syndrome, which is caused by germline mutations in the FH gene that encodes the tricarboxylic ac...

  18. Giant basal cell carcinoma Carcinoma basocelular gigante

    Directory of Open Access Journals (Sweden)

    Nilton Nasser

    2012-06-01

    Full Text Available The basal cell carcinoma is the most common skin cancer but the giant vegetating basal cell carcinoma reaches less than 0.5 % of all basal cell carcinoma types. The Giant BCC, defined as a lesion with more than 5 cm at its largest diameter, is a rare form of BCC and commonly occurs on the trunk. This patient, male, 42 years old presents a Giant Basal Cell Carcinoma which reaches 180 cm2 on the right shoulder and was negligent in looking for treatment. Surgical treatment was performed and no signs of dissemination or local recurrence have been detected after follow up of five years.O carcinoma basocelular é o tipo mais comum de câncer de pele, mas o carcinoma basocelular gigante vegetante não atinge 0,5% de todos os tipos de carcinomas basocelulares. O Carcinoma Basocelular Gigante, definido como lesão maior que 5 cm no maior diâmetro, é uma forma rara de carcinoma basocelular e comumente ocorre no tronco. Este paciente apresenta um Carcinoma Basocelular Gigante com 180cm² no ombro direito e foi negligente em procurar tratamento. Foi realizado tratamento cirúrgico e nenhum sinal de disseminação ou recorrência local foi detectada após 5 anos.

  19. Prostata carcinomas

    International Nuclear Information System (INIS)

    Pre-operative staging, using transrectal prostatic sonography and CT, was carried out in 30 patients with cytologically confirmed carcinomas of the prostate and the results compared with the clinical findings. All patients underwent radical prostatectomy and the pre-operative findings could be verified histologically. Transrectal prostatic sonography is better than CT or clinical examination for determining local tumour spread or penetration of the capsule. A high proportion of enlarged pelvic lymphnodes shown by CT had non-specific changes; failure to demonstrate enlarged nodes excludes lymph node metastases with considerable certainty. Transrectal prostatic sonography provides a higher degree of information regarding local tumour spread, whereas CT indicates the presence or absence of lymph node metastases. (orig.)

  20. 布-加综合征合并肝癌36例临床分析%Budd-Chiari syndrome complicated with hepatocellular carcinoma: a clinical analysis of 36 cases

    Institute of Scientific and Technical Information of China (English)

    韩新强; 祖茂衡; 顾玉明; 徐浩; 许伟; 王文亮

    2011-01-01

    目的 探讨布-加综合征(BCS)合并肝癌(HCC)的临床特征及相关因素,从而提供治疗思路.方法 回顾性分析1994年6月 - 2010年7月收治的1240例BCS患者中合并HCC者36例,对其影像学、实验室检查及治疗后转归进行分析.结果 BCS合并HCC主要发生在下腔静脉膜性阻塞病变中(33/36),发病平均年龄47岁,术后生存时间为14~62个月,平均生存期为32.5个月;完成随访的30例中8例BCS术后发生HCC者生存时间为BCS术后18~62个月,平均37个月;22例BCS术前诊断合并HCC者有效生存时间为BCS术后14~56个月,平均30.8个月.结论 对于BCS合并HCC者应先行肿瘤TACE或TAI治疗再行BCS介入治疗.%Objective To investigate the clinical characteristics and related factors of Budd-Chiari syndrome (BCS)complicated with hepatocellular carcinoma (HCC) . in order to provide theoretical basis for clinical treatment. Methods A retrospective study was performed to analyze the imaging diagnoses,laboratory tests and follow-up results after surgery of 36 patients of BCS complicated with HCC. The study patients were selected from 1240 patients with BCS who were hospitalized in authors'hospital during the period from June 1994 to July 2010. Results BCS with HCC mainly occurred in membranous obstruction of inferior vena cava(MOVC) (33/36), the average age of the onset of the disease was 46.6 years old, and the available life span after interventional or surgical operation was 14 ~ 62 months. The average survival time was 32.5 months. Eight cases who developed HCC after BCS operation had an available life span of 18 ~ 62 months (average 37 months). Twenty-two patients with coexisting BCS and HCC before operation had an available life span of 14 ~ 56 months (average 30.8 months). Conclusion For the treatment of BCS combined with HCC, TACE or TAI followed by interventional therapy of BCS is recommended. (J Intervent Radiol. 2011. 20: 207-209)

  1. Polycystic Ovary Syndrome - diagnosis and treatment

    OpenAIRE

    Hussain, Amna

    2015-01-01

    Abstract: Polycystic ovary syndrome (PCOS) is a common endocrine and metabolic disorder, and a major cause of infertility in women. An excessive amount of androgen hormones are produced by polycystic ovaries in PCOS with irregular menstruation and anovulation as result. The most common early symptoms are infertility, hirsutism and acne. Type 2 diabetes mellitus, metabolic syndrome, and possibly cardiovascular disease and endometrial carcinoma are all associated as lifelong implications with t...

  2. [Nephrotic syndrome associated with ampulloma].

    Science.gov (United States)

    López-Navidad, A; Colomina, J; Domingo, P; Franco, M; Algaba, F

    1989-06-01

    A patient is reported who presented simultaneously classic nephrotic syndrome and adenocarcinoma of the Vater ampulla. Morphological study of the renal biopsy revealed changes characteristic of membranous glomerulonephritis and subepithelial deposits. These deposits stained specifically for IgG and C'3 with a granular pattern, but deposits of CEA-antiCEA immune complexes were not found in glomerular capillaries. The association of nephrotic syndrome with lymphoproliferative diseases and a large variety of solid tumors, like carcinoma of the breast, bronchogenic, colon and stomach has been communicated, but the present case constitutes the first known association with adenocarcinoma of the Vater ampulla. PMID:2772382

  3. Giant basal cell carcinoma Carcinoma basocelular gigante

    OpenAIRE

    Nilton Nasser; Nilton Nasser Filho; Bruno Trauczynski Neto; Lissandra Melati da Silva

    2012-01-01

    The basal cell carcinoma is the most common skin cancer but the giant vegetating basal cell carcinoma reaches less than 0.5 % of all basal cell carcinoma types. The Giant BCC, defined as a lesion with more than 5 cm at its largest diameter, is a rare form of BCC and commonly occurs on the trunk. This patient, male, 42 years old presents a Giant Basal Cell Carcinoma which reaches 180 cm2 on the right shoulder and was negligent in looking for treatment. Surgical treatment was performed and no s...

  4. Black Thyroid Associated with Thyroid Carcinoma

    Directory of Open Access Journals (Sweden)

    Emad Kandil

    2010-01-01

    Full Text Available Objective. Black thyroid is a rare pigmented change seen almost exclusively in patients upon minocycline ingestion, and the process has previously been thought to be generally benign. There have been 61 reported cases of black thyroid. We are aware of 13 cases previously reported in association with thyroid carcinoma. This paper reports six patients with black thyroid pigmentation in association with thyroid carcinoma. Design. The medical records of six patients who were diagnosed with black thyroid syndrome, all of whom underwent thyroid surgery, were reviewed. Data on age, gender, race, preoperative fine needle aspiration biopsy (FNA, thyroid function levels, and pathology reports were collected. Main Outcome. The mean age was 60 years. There were 5 females, 4 of whom were African American. All patients were clinically and biochemically euthyroid. Black pigmentation was not diagnosed in preoperative FNA, and only one patient had a preoperative diagnosis of papillary thyroid carcinoma. The other patients underwent surgery and were found to have black pigmentation of the thyroid associated with carcinoma. Conclusions. FNA does not diagnose black thyroid, which is associated with thyroid carcinoma. Thyroid glands with black pigmentation deserve thorough pathologic examination, including several sections of each specimen.

  5. Kindler syndrome

    Directory of Open Access Journals (Sweden)

    Kaviarasan P

    2005-01-01

    Full Text Available Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

  6. Liver cancer - hepatocellular carcinoma

    Science.gov (United States)

    Primary liver cell carcinoma; Tumor - liver; Cancer - liver; Hepatoma ... Hepatocellular carcinoma accounts for most liver cancers. This type of cancer occurs more often in men than women. It is usually diagnosed in people age 50 or ...

  7. Liver cancer - hepatocellular carcinoma

    Science.gov (United States)

    Primary liver cell carcinoma; Tumor - liver; Cancer - liver; Hepatoma ... Hepatocellular carcinoma accounts for most liver cancers. This type of cancer occurs more often in men than women. It is usually diagnosed in people age 50 or older. ...

  8. Undifferentiated salivary gland carcinomas

    DEFF Research Database (Denmark)

    Herbst, H.; Hamilton-Dutoit, S.; Jakel, K.T.;

    2004-01-01

    Undifferentiated salivary gland carcinomas may be divided into small cell and large cell types. Among large cell undifferentiated carcinomas, lymphoepithelial carcinomas have to be distinguished, the latter of which are endemic in the Arctic regions and southern China where virtually all cases of...... these tumors are associated with the Epstein-Barr virus (EBV). Association with EBV may also be observed in sporadic cases, and detection of EBV gene products may aid their diagnosis. Immunohistology may be employed to resolve the differential diagnosis of undifferentiated salivary gland carcinomas......, comprising malignant lymphomas, amelanotic melanomas, Merkel cell carcinomas, and adenoid cystic carcinomas, in particular in small biopsy materials. Because of the rarity of undifferentiated salivary gland carcinomas, the differential diagnosis should always include metastases of undifferentiated carcinomas...

  9. Preoperative Subclinical Hyperthyroidism in Patients With Papillary Thyroid Carcinoma

    OpenAIRE

    Ahn, Dongbin; Sohn, Jin Ho; Jeon, Jae Han; Park, Junesik

    2014-01-01

    Objectives Numerous studies have reported the effects of subclinical hyperthyroidism on the cardiovascular system, osteoporosis, and metabolic syndrome. However, there are few studies examining the relationships between subclinical hyperthyroidism and thyroid cancer. The aim of this study was to investigate the relationships between preoperative subclinical hyperthyroidism and clinicopathological characteristics in patients with papillary thyroid carcinoma (PTC) in terms of thyroid-stimulatin...

  10. Hepatocellular carcinoma.

    Science.gov (United States)

    Llovet, Josep M; Zucman-Rossi, Jessica; Pikarsky, Eli; Sangro, Bruno; Schwartz, Myron; Sherman, Morris; Gores, Gregory

    2016-01-01

    Liver cancer is the second leading cause of cancer-related deaths globally and has an incidence of approximately 850,000 new cases per year. Hepatocellular carcinoma (HCC) represents approximately 90% of all cases of primary liver cancer. The main risk factors for developing HCC are well known and include hepatitis B and C virus infection, alcohol intake and ingestion of the fungal metabolite aflatoxin B1. Additional risk factors such as non-alcoholic steatohepatitis are also emerging. Advances in the understanding of the molecular pathogenesis of HCC have led to identification of critical driver mutations; however, the most prevalent of these are not yet druggable targets. The molecular classification of HCC is not established, and the Barcelona Clinic Liver Cancer staging classification is the main clinical algorithm for the stratification of patients according to prognosis and treatment allocation. Surveillance programmes enable the detection of early-stage tumours that are amenable to curative therapies - resection, liver transplantation or local ablation. At more developed stages, only chemoembolization (for intermediate HCC) and sorafenib (for advanced HCC) have shown survival benefits. There are major unmet needs in HCC management that might be addressed through the discovery of new therapies and their combinations for use in the adjuvant setting and for intermediate- and advanced-stage disease. Moreover, biomarkers for therapy stratification, patient-tailored strategies targeting driver mutations and/or activating signalling cascades, and validated measurements of quality of life are needed. Recent failures in the testing of systemic drugs for intermediate and advanced stages have indicated a need to refine trial designs and to define novel approaches. PMID:27158749

  11. Hepatocellular carcinoma.

    Science.gov (United States)

    Edwards, J T; Macdonald, G A

    2000-05-01

    The incidence of hepatocellular carcinoma (HCC) appears to be declining in Taiwan and potentially in other high-prevalence areas as a consequence of vaccination for hepatitis B virus (HBV). However, there is evidence that the incidence of HCC is increasing in North America and Europe. This appears to be related to the increasing prevalence and duration of hepatitis C virus (HCV) infection in these countries. There is also growing evidence to support an increase in the risk of HCC in patients with HCV who are coinfected with occult HBV (patients who have lost HBV surface antigen but still have detectable HBV DNA either in blood or liver). Occult HBV infection in patients with HCV may be more common than previously thought, and HCC that occurs in this setting appears to have a worse prognosis. There is continuing interest in the effect of interferon therapy on the incidence of HCC in patients with HCV. Several studies from Japan have shown a benefit in patients without cirrhosis, although there are a number of potentially confounding variables that may partly explain these results. Prospective randomized studies are needed to investigate this important question. The molecular biology of HCC and the events of malignant transformation in the liver continue to be areas of intense study. Recently, there has been considerable interest in telomeres, the repeat units on the ends of chromosomes, and the enzyme that maintains these, telomerase. Telomeres shorten with each cell division and can be used to determine the number of divisions a cell has undergone. Eventually they reach a critical length, with further loss resulting in cellular senescence. Telomerase restores telomere length and may help malignant cells escape senescence. Nearly all HCCs have telomerase activity and assessments of telomeres and telomerase may be clinically useful. PMID:17023886

  12. Novel germline c-MET mutation in a family with hereditary papillary renal carcinoma

    DEFF Research Database (Denmark)

    Wadt, Karin; Gerdes, Anne-Marie; Hansen, Thomas V O;

    2012-01-01

    Hereditary papillary renal carcinoma (HPRC) is a highly penetrant hereditary renal cancer syndrome caused by germline missense mutations in the c-MET proto-oncogene. HPRC is clinically characterized by multiple bilateral papillary renal-cell carcinomas. Here we report a family with a novel missense...... mutation in c-MET. The original pathology report of four primary kidney cancers (1988-1997) revealed renal-cell carcinoma. A revised report described multiple adenomas and papillary renal-cell carcinomas with focal clear cells and a mixture of type 1 and type 2 pattern, emphasizing the importance of...

  13. Cryotherapy for hepatocellular carcinoma

    DEFF Research Database (Denmark)

    Awad, Tahany; Thorlund, Kristian; Gluud, Christian

    2009-01-01

    BACKGROUND: Hepatocellular carcinoma is the most common primary malignant cancer of the liver. Evidence for the role of cryotherapy in the treatment of hepatocellular carcinoma is controversial. OBJECTIVES: The aim of this review is to evaluate the potential benefits and harms of cryotherapy for...... the treatment of hepatocellular carcinoma. SEARCH STRATEGY: We searched The Cochrane Hepato-Biliary Group Controlled Trials Register, the Cochrane Central Register of Controlled Trials (CENTRAL) in The Cochrane Library, MEDLINE, EMBASE, and LILACS until June 2009. We identified further studies by...... hepatocellular carcinoma. Randomised clinical trials with low-risk of bias may help in defining the role of cryotherapy in the treatment of hepatocellular carcinoma....

  14. Basal cell carcinoma of the skin with areas of squamous cell carcinoma: a basosquamous cell carcinoma?

    OpenAIRE

    Faria, J.

    1985-01-01

    The diagnosis of basosquamous cell carcinoma is controversial. A review of cases of basal cell carcinoma showed 23 cases that had conspicuous areas of squamous cell carcinoma. This was distinguished from squamous differentiation and keratotic basal cell carcinoma by a comparative study of 40 cases of compact lobular and 40 cases of keratotic basal cell carcinoma. Areas of intermediate tumour differentiation between basal cell and squamous cell carcinoma were found. Basal cell carcinomas with ...

  15. Endometrial carcinoma occuring from polycystic ovary disease : A case report

    International Nuclear Information System (INIS)

    Endometrial carcinoma usually occurs in postmenopausal women ; less than 5% occurs in women under the age of 40. Up to one quarter of endometrial carcinoma patients below this age have PCO(polycystic ovary disease, Stein-Leventhal syndrome). The increased incidence of endometrial carcinoma in patients with PCO is related to chronic estrogenic stimulation. We report MR imaging in one case of endometrial carcinoma occuring in a 23 year old woman with PCO and had complained of hypermenorrhea for about three years. On T2-weighted MR image the endometrial cavity was seen to be distended with protruded endometrial masses of intermediate signal intensity, and the junctional zone was disrupted beneath the masses. Both ovaries were best seen on T2-weighted MR imaging and showed multiple small peripheral cysts and low signal-intensity central stroma

  16. Virilizing adrenocortical carcinoma in a child: A rare enigma

    Directory of Open Access Journals (Sweden)

    Varuna Sipayya

    2012-01-01

    Full Text Available Adrenocortical carcinomas are rare tumors with an incidence of one to two cases per million population and are still more rarer in the pediatric age group. Adrenocortical carcinomas can be functional or may be unassociated with syndromes of hormone overproduction. It is very important to differentiate an adrenocortical adenoma from a carcinoma, as both share a large number of phenotypic features, and assess their prognosis, as adrenocortical carcinoma may need an adjuvant therapy. In this communication, we describe the case of a two-year-old boy, who presented with iso-sexual precocious puberty, having features of virilization, which included growth of facial and pubic hair, deepening of voice, and penile growth.

  17. Acute Cavernous Sinus Syndrome from Metastasis of Lung Cancer to Sphenoid Bone

    OpenAIRE

    Zelenak, Marianna; Doval, Mariana; Gorscak, Jason J.; Cuscela, Daniel O.

    2012-01-01

    Cavernous sinus syndrome is a rare entity in oncology reported only in occasional case reports. Optimal therapy is thus poorly defined with rapidly progressive disease dominating the picture. Management includes prompt diagnosis, attempts at stabilization of cranial nerve function, and aggressive control of central pain syndrome. Here, we report cavernous sinus syndrome secondary to the original squamous cell carcinoma of the lung. With common presenting causes of this syndrome being infectio...

  18. Cushing's Syndrome

    Science.gov (United States)

    ... Cushing's syndrome, also called hypercortisolism , is a rare endocrine disorder caused by chronic exposure of the body's tissues ... removing the tumor while minimizing the chance of endocrine deficiency or long-term ... for Cushing's Syndrome Clinical Trials ...

  19. Turner Syndrome

    Science.gov (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  20. Metabolic Syndrome

    Science.gov (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These ... doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  1. Asperger syndrome

    Science.gov (United States)

    Asperger syndrome is often considered a high functioning form of autism. It can lead to difficulty interacting socially, repeat behaviors, and clumsiness. Asperger syndrome is a part of the larger developmental disorder ...

  2. Pseudoaminopterin syndrome.

    Science.gov (United States)

    Kraoua, Lilia; Capri, Yline; Perrin, Laurence; Benmansour, Abdelmajjid; Verloes, Alain

    2012-09-01

    Pseudoaminopterin syndrome or aminopterin syndrome-like sine aminopterin (ASSA syndrome--OMIM 600325] is a rare autosomal recessive syndrome defined by characteristic dysmorphic features, skeletal defects, limb anomalies, cryptorchidism, and growth retardation. The syndrome owes its name to the fact that patients resemble the children exposed to aminopterin or to methotrexate, two dihydrofolate reductase inhibitors used for chemotherapy, or as an abortificient in early pregnancy. Ten patients have been described with pseudoaminopterin syndrome. Their phenotype is variable, and differs from the phenotype resulting from folic acid deprivation, leading to the notion that the pathogenesis may be more complex than simple vitamin deficiency. We report on an Algerian patient with pseudoaminopterin syndrome, review the previously reported cases and confirm that pseudoaminopterin syndrome does not result from a detectable contiguous gene imbalance as high resolution CGH array was normal in this child. PMID:22811276

  3. Usher Syndrome

    Science.gov (United States)

    Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder ... hearing and vision. There are three types of Usher syndrome: People with type I are deaf from ...

  4. Turner Syndrome

    Science.gov (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of ...

  5. Proteus Syndrome

    Science.gov (United States)

    ... Gift Stock Gift Sunshine Society Contact Privacy Policy Proteus Syndrome Definition Common Signs Diagnostic Criteria (I have ... NIH to go with this criteria) Glossary Videos Proteus Syndrome is a condition which involves atypical growth ...

  6. Learning about Marfan Syndrome

    Science.gov (United States)

    ... genetic terms used on this page Learning About Marfan Syndrome What is Marfan syndrome? What are the ... Syndrome Additional Resources for Marfan Syndrome What is Marfan syndrome? Marfan syndrome is one of the most ...

  7. Alagille syndrome.

    OpenAIRE

    Krantz, I D; Piccoli, D A; Spinner, N B

    1997-01-01

    Alagille syndrome (OMIM 118450) is an autosomal dominant disorder associated with abnormalities of the liver, heart, eye, skeleton, and a characteristic facial appearance. Also referred to as the Alagille-Watson syndrome, syndromic bile duct paucity, and arteriohepatic dysplasia, it is a significant cause of neonatal jaundice and cholestasis in older children. In the fully expressed syndrome, affected subjects have intrahepatic bile duct paucity and cholestasis, in conjunction with cardiac ma...

  8. Pulmonary mass with renal carcinoma

    International Nuclear Information System (INIS)

    The paper analyzes the case of a 73 year-old patient, masculine sex, obese, with syndrome of obstructive apnoea of the dream, reason why he uses nasal CPAP for 2 at 3 hours in the night for 2 years. It was intervened by renal carcinoma of clear cells at the end of the year 2002. The Rx of thorax preoperative had been informed as normal, but in an abdominal preoperative tomography, the presence of a mass was suggested in the base right lung thorax, reason why Tac is practiced, which demonstrates an irregular nodular image clearly, stuck to the pleura that that suggests unique metastasis of the renal carcinoma. Masses neither mediastinal adenopaties were not evidenced. In the post-operative of their nefrectomy the patient presented dehiscence of the sutures and evisceration, reason why he was re-intervened with primary closing and managed with antibiotics, achieving appropriate scaring. It was programmed for resection of the pulmonary mass. Their evolution and discusses of the case are studied

  9. Poland's Syndrome Complicated with Breast Cancer: Mammographic, Ultrasonographic, and Computed Tomographic Findings

    International Nuclear Information System (INIS)

    Poland's syndrome is a rare congenital anomaly characterized by unilateral chest wall hypoplasia and ipsilateral hand abnormalities. It has been reported in association with various malignancies and other developmental defects. We report here the case of a 58-year-old woman with Poland's syndrome who developed breast cancer in the ipsilateral normal breast. A review of the literature reveals that two studies of breast carcinoma associated with Poland's syndrome have been reported, but this paper is the first example of a carcinoma occurring in an otherwise normal breast associated with Poland's syndrome

  10. Poland's Syndrome Complicated with Breast Cancer: Mammographic, Ultrasonographic, and Computed Tomographic Findings

    Energy Technology Data Exchange (ETDEWEB)

    Ji, J.; Zhang, S.; Shao, C.; Xu, M.; Chen, S.; Lu, C.; Wang, Z.; Zhao, Z.; Fan, X.; Tu, J. (Dept. of Radiology, Sir Run Run Shaw Hospital, Medical College of Zhejiang Univ., Hangzhou City (China))

    2008-05-15

    Poland's syndrome is a rare congenital anomaly characterized by unilateral chest wall hypoplasia and ipsilateral hand abnormalities. It has been reported in association with various malignancies and other developmental defects. We report here the case of a 58-year-old woman with Poland's syndrome who developed breast cancer in the ipsilateral normal breast. A review of the literature reveals that two studies of breast carcinoma associated with Poland's syndrome have been reported, but this paper is the first example of a carcinoma occurring in an otherwise normal breast associated with Poland's syndrome

  11. Severe Hypokalaemia, Hypertension, and Intestinal Perforation in Ectopic Adrenocorticotropic Hormone Syndrome

    Science.gov (United States)

    Karacaer, Cengiz; Açikgöz, Seyyid Bilal; Aydemir, Yusuf; Tamer, Ali

    2016-01-01

    Ectopic adrenocorticotropic hormone (ACTH) syndrome is a rare cause of the Cushing’s syndrome. The occurrence of the ectopic ACTH syndrome presenting with severe hypokalaemia, metabolic alkalosis, and hypertension has been highlighted in case reports. However, presentation with lower gastrointestinal perforation is not known. We report the case of a 70-year-old male patient with severe hypokalaemia, metabolic alkalosis, hypertension, and colonic perforation as manifestations of an ACTH-secreting small cell lung carcinoma. Ectopic ACTH syndrome should be kept in mind as a cause of hypokalaemia, hypertension, and intestinal perforation in patients with lung carcinoma. PMID:26894113

  12. Cushing Syndrome

    Science.gov (United States)

    ... links Share this: Page Content What is Cushing’s syndrome? Cushing’s syndrome is a condition that occurs when the body’s ... medication or as a result of a tumor, Cushing’s syndrome can develop. Many factors influence whether this happens, ...

  13. Dumping Syndrome

    Science.gov (United States)

    ... Disease Organizations​​ (PDF, 341 KB)​​​​​ Alternate Language URL Dumping Syndrome Page Content On this page: What is ... Nutrition Points to Remember Clinical Trials What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ...

  14. Synchronous gastric neuroendocrine carcinoma and hepatocellular carcinoma

    DEFF Research Database (Denmark)

    Ewertsen, Caroline; Henriksen, Birthe Merete; Hansen, Carsten Palnæs;

    2009-01-01

    UNLABELLED: Gastric neuroendocrine carcinomas (NECs) are rare tumours that are divided into four subtypes depending on tumour characteristics. Patients with NECs are known to have an increased risk of synchronous and metachronous cancers mainly located in the gastrointestinal tract. A case of...... synchronous gastric NEC and hepatocellular carcinoma in a patient with several other precancerous lesions is presented. The patient had anaemia, and a gastric tumour and two duodenal polyps were identified on upper endoscopy. A CT scan of the abdomen revealed several lesions in the liver. The lesions were...... invisible on B-mode sonography and real-time sonography fused with CT was used to identify and biopsy one of the lesions. Histology showed hepatocellular carcinoma. A literature search showed that only one case of a hepatocellular carcinoma synchronous with a gastric NEC has been reported previously. TRIAL...

  15. Clustering of sebaceous gland carcinoma, papillary thyroid carcinoma and breast cancer in a woman as a new cancer susceptibility disorder: a case report

    Directory of Open Access Journals (Sweden)

    Newman Brian D

    2009-07-01

    Full Text Available Abstract Introduction Multiple distinct tumors arising in a single individual or within members of a family raise the suspicion of a genetic susceptibility disorder. Case presentation We present the case of a 52-year-old Caucasian woman diagnosed with sebaceous gland carcinoma of the eyelid, followed several years later with subsequent diagnoses of breast cancer and papillary carcinoma of the thyroid. Although the patient was also exposed to radiation from a pipe used in the oil field industry, the constellation of neoplasms in this patient suggests the manifestation of a known hereditary susceptibility cancer syndrome. However, testing for the most likely candidates such as Muir-Torre and Cowden syndrome proved negative. Conclusion We propose that our patient's clustering of neoplasms either represents a novel cancer susceptibility disorder, of which sebaceous gland carcinoma is a characteristic feature, or is a variant of the Muir-Torre syndrome.

  16. Poland's syndrome revisited.

    Science.gov (United States)

    Fokin, Alexander A; Robicsek, Francis

    2002-12-01

    Poland's syndrome is a rare congenital anomaly characterized by unilateral chest wall hypoplasia and ipsilateral hand abnormalities. Literary data suggest its sporadic nature. The prevailing theory of its cause is hypoplasia of the subclavian artery or its branches, which may lead to a range of developmental changes. The incidence of Poland's syndrome varies between groups (male versus female patients, congenital versus familial cases, and so on) and ranges from 1 in 7,000 to 1 in 100,000 live births. Cases of Poland's syndrome associated with leukemia, carcinoma of the hypoplastic breast, and other conditions, confirm the relationship between developmental defects and tumors, and require oncologic awareness. Various manifestations, age, and gender require different surgical approaches. Our experience, which includes 27 patients (15 male, 12 female), 20 of whom (12 male, 8 female) underwent operation, suggests that the repair should be done in two stages in children and in a single stage in adults. Reconstruction and/or stabilization of the aplastic ribs may be achieved using bone grafts or prosthetic mesh. Muscle flaps and breast implants may be used to correct muscle deficiency and breast hypoplasia and to help achieve a complete cosmetic repair. PMID:12643435

  17. Metachronous colorectal carcinoma

    DEFF Research Database (Denmark)

    Bülow, Steffen; Svendsen, L B; Mellemgaard, A

    1990-01-01

    During the period 1943-67, 903 Danish patients aged less than 40 years had colorectal carcinoma. The patients were followed up for up to 41 years and during this period 44 of 501 (9 per cent) operated on for cure developed a metachronous colorectal carcinoma. The cumulative risk of a metachronous...... colorectal carcinoma was 30 per cent after up to 41 years of observation. The occurrence of a metachronous colorectal carcinoma was evenly distributed in the observation period. The cumulative survival rate after operation for a metachronous colorectal carcinoma was 41 per cent after 20 years of observation....... We propose a lifelong follow-up programme after resection of colorectal carcinoma for cure in this age group, including annual Hemoccult test and colonoscopy at 3-year intervals....

  18. URACHAL CARCINOMA IN BLADDER

    Institute of Scientific and Technical Information of China (English)

    薛丽燕; 吕宁; 何祖根; 林冬梅; 刘秀云

    2004-01-01

    Objective: To investigate the clinicopathologic features and diagnostic criteria of urachal carcinoma in the bladder.Methods: Seven cases of urachal carcinoma in the bladder were analyzed retrospectively. Results: All the tumors were found locating in the dome of bladder. Of them, 4 were mucinous adenocarcinoma, one was well differentiated papillary enteric adenocarcinoma, one was well differentiated squamous carcinoma, and one was neuroendocrine carcinoma. Cystomorphous urachal remnants were found in 4 cases. The main complaint was hematuria and all patients underwent partial excision of bladder and urachus. Conclusion: Mucinous adenocarcinoma is the main histo-pathological type, and cystomorphous urachal remnants are often accompanied with urachal carcinoma in the bladder. The key diagnostic criteria of urachal carcinoma in bladder are site and histopathology. And to examine the specimens carefully to find the urachal remnants is important.

  19. A possible new syndrome with growth-hormone secreting pituitary adenoma, colonic polyposis, lipomatosis, lentigines and renal carcinoma in association with familial testicular germ cell malignancy: A case report

    Directory of Open Access Journals (Sweden)

    Mai Phuong L

    2007-03-01

    Full Text Available Abstract Background Germ-cell testicular cancer has not been definitively linked to any known hereditary cancer susceptibility disorder. Familial testicular cancer in the presence of other findings in affected and unaffected family members might indicate a previously-unidentified hereditary cancer syndrome. Case presentation The patient was diagnosed with a left testicular seminoma at age 28, and treated with left orchiectomy followed by adjuvant cobalt radiation. His family history is significant for testicular seminoma in his son, bladder cancer in his sister, and lipomatosis in his father. His evaluation as part of an etiologic study of familial testicular cancer revealed multiple colon polyps (adenomatous, hyperplastic, and hamartomatous first found in his 50 s, multiple lipomas, multiple hyperpigmented skin lesions, left kidney cancer diagnosed at age 64, and a growth-hormone producing pituitary adenoma with associated acromegaly diagnosed at age 64. The patient underwent genetic testing for Cowden syndrome (PTEN gene, Carney complex (PRKAR1A gene, and multiple endocrine neoplasia syndrome type 1 (MEN1 gene; no deleterious mutations were identified. Discussion The constellation of benign and malignant neoplasms in the context of this patient's familial testicular cancer raised the possibility that these might be manifestations of a known hereditary susceptibility cancer syndrome; however, genetic testing for the three syndromes that were most likely to explain these findings did not show any mutation. Alternatively, this family's phenotype might represent a novel neoplasm susceptibility disorder. This possibility cannot be evaluated definitively on the basis of a single case report; additional observations and studies are necessary to investigate this hypothesis further.

  20. Hidden diagnosis of multiple endocrine neoplasia-1 unraveled during workup of virilization caused by adrenocortical carcinoma

    Directory of Open Access Journals (Sweden)

    Sandeep Kharb

    2013-01-01

    Full Text Available Multiple endocrine neoplasia-1 (MEN1 is an autosomal dominant syndrome with classic triad of parathyroid hyperplasia, pancreatic neuroendocrine tumors, and pituitary adenomas. Other recognized manifestations include carcinoid, cutaneous or adrenocortical tumors. It is commonly presented with clinical features related to parathyroid, pancreas or pituitary lesions. Here, we have presented a case that had virilization and biochemical Cushing′s syndrome due to adrenocortical carcinoma as presenting feature of MEN1. Cushing′s syndrome in MEN1 is an extremely rare and usually late manifestation and most cases are due to corticotropin-producing pituitary adenomas. Although Cushing′s syndrome generally develops years after the more typical manifestations of MEN1 appear, it may be the primary manifestation of MEN1 syndrome particularly when related to adrenal adenoma or carcinoma.

  1. Nephrotic Syndrome Associated with Lung Cancer: A Rare Case of Malignancy Associated with AA Amyloidosis

    Science.gov (United States)

    Gueutin, Victor; Langlois, Anne-Lyse; Shehwaro, Nathalie; Elharraqui, Ryme; Rouvier, Philippe; Izzedine, Hassane

    2013-01-01

    Nonhematologic malignancies are rarely reported to be associated with AA amyloidosis. Although the association between renal cell carcinoma and systemic AA amyloidosis has been established, the evidence linking pulmonary cancer to AA amyloidosis is scarce. Here, a case of biopsy-proven renal AA amyloidosis complicated with nephrotic syndrome associated with lung carcinoma is reported. PMID:24558629

  2. Nephrotic Syndrome Associated with Lung Cancer: A Rare Case of Malignancy Associated with AA Amyloidosis

    OpenAIRE

    Victor Gueutin; Anne-Lyse Langlois; Nathalie Shehwaro; Ryme Elharraqui; Philippe Rouvier; Hassane Izzedine

    2013-01-01

    Nonhematologic malignancies are rarely reported to be associated with AA amyloidosis. Although the association between renal cell carcinoma and systemic AA amyloidosis has been established, the evidence linking pulmonary cancer to AA amyloidosis is scarce. Here, a case of biopsy-proven renal AA amyloidosis complicated with nephrotic syndrome associated with lung carcinoma is reported.

  3. Nephrotic Syndrome Associated with Lung Cancer: A Rare Case of Malignancy Associated with AA Amyloidosis

    Directory of Open Access Journals (Sweden)

    Victor Gueutin

    2013-01-01

    Full Text Available Nonhematologic malignancies are rarely reported to be associated with AA amyloidosis. Although the association between renal cell carcinoma and systemic AA amyloidosis has been established, the evidence linking pulmonary cancer to AA amyloidosis is scarce. Here, a case of biopsy-proven renal AA amyloidosis complicated with nephrotic syndrome associated with lung carcinoma is reported.

  4. Hepatocellular carcinoma: epidemiology and risk factors

    Directory of Open Access Journals (Sweden)

    Kew MC

    2014-08-01

    Full Text Available Michael C Kew Department of Medicine, Groote Schuur Hospital and University of Cape Town, Cape Town, South Africa Abstract: Hepatocellular carcinoma is one of the major malignant tumors in the world today. The number of new cases of the tumor increases year by year, and hepatocellular carcinoma almost always runs a fulminant course and carries an especially grave prognosis. It has a low resectability rate and a high recurrence rate after surgical intervention, and responds poorly to anticancer drugs and radiotherapy. Hepatocellular carcinoma does not have a uniform geographical distribution: rather, very high incidences occur in Eastern and Southeastern Asia and in sub-Saharan Black Africans. In these regions and populations, the tumor shows a distinct shift in age distribution toward the younger ages, seen to greatest extent in sub-Saharan Black Africans. In all populations, males are more commonly affected. The most common risk factors for hepatocellular carcinoma in resource-poor populations with a high incidence of the tumor are chronic hepatitis B virus infection and dietary exposure to the fungal hepatocarcinogen aflatoxin B1. These two causative agents act either singly or synergistically. Both the viral infection and exposure to the fungus occur from early childhood, and the tumor typically presents at an early age. Chronic hepatitis C virus infection is an important cause of hepatocellular carcinoma in resource-rich countries with a low incidence of the tumor. The infection is acquired in adulthood and hepatocellular carcinoma occurs later than it does with hepatitis B virus-induced tumors. In recent years, obesity and the metabolic syndrome have increased markedly in incidence and importance as a cause of hepatocellular carcinoma in some resource-rich regions. Chronic alcohol abuse remains an important risk factor for malignant transformation of hepatocytes, frequently in association with alcohol-induced cirrhosis. Excessive iron

  5. Adrenocortical carcinoma: Report of two cases

    Directory of Open Access Journals (Sweden)

    C Aparna

    2011-01-01

    Full Text Available Adrenocortical carcinoma (ACC is a rare neoplasm with a slight predilection for female patients. We report two cases of ACC. The first case was of a 7-year-old girl who presented with clitoromegaly. The second case was of a 22-Year-old female who presented with a lump in the abdomen and features of Cushing′s syndrome with virilization.The clinical, biochemical, histological features along with differential diagnosis are discussed. These cases are presented because of their rarity, and also to highlight the importance of differentiating ACC from an adenoma particularly in pediatric patients.

  6. Trigeminal perineural spread of renal cell carcinoma

    International Nuclear Information System (INIS)

    A 55-year-old man had a five-day history of “pins and needles” sensation on the left chin. Examination showed decreased pinprick sensation on the territory of the left mandibular branch of the trigeminal nerve. Brain magnetic resonance imaging (MRI) with gadolinium showed enhancement involving the left mandibular branch. Computed tomography (CT) of the chest, abdomen, and pelvis showed a left kidney mass diagnosed as renal carcinoma following nephrectomy. The “numb-chin” syndrome heralds or accompanies systemic malignancies. Trigeminal perineural spread has been well-documented in head and neck neoplasms, however, to our knowledge, it has not been reported in renal neoplasms. (author)

  7. Multiple primary bronchogenic carcinomas.

    Science.gov (United States)

    Yang, X; Ji, H; Paljarvi, L; Soimakallio, S

    1996-07-01

    Multiple primary bronchogenic carcinomas (MPBCa) are extremely rare. The differentiation of a MPBCa from a pulmonary metastasis due to an extrathoracic neoplasm is sometimes difficult. We reviewed 324 pathologically proved primary pulmonary carcinomas and found six cases of MPBCa (1.9%). We herewith present the series and discuss the diagnosis of MPBCa. PMID:21594435

  8. Urofacial syndrome

    Directory of Open Access Journals (Sweden)

    Kamal F Akl

    2012-01-01

    Full Text Available The urofacial syndrome is characterized by functional obstructive uropathy asso-ciated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.

  9. Waardenburg syndrome.

    OpenAIRE

    Read, A P; Newton, V E

    1997-01-01

    Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly inherited examples with patchy depigmentation are usually labelled Waardenburg syndrome (WS). Type I WS, characterised by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene. Type III WS (Klein-Waardenburg syndrome, with abnormalities of the arms) is an extreme presentation of type I; some but not all patients are ho...

  10. Sweet Syndrome

    OpenAIRE

    Kasapçopur, Özgür; Sever, Lale; Çalışkan, Salim; Kodakoğlu, Ramazan; Mat, Cem; Kaner, Gültekin; Arısoy, Nil

    1996-01-01

    Sweet syndrome is a vasculitis characterized with fever leucocytosis neutrophilia and dermal neutrophilic infiltration In children Sweet syndrome usually occurs with secondary to infection and in adults to malignancy We report a Sweet syndrome in a five years old girl with respiratory infections otitis dactylitis long lasting fever and cutaneous rash A neutrophilic dermal infiltration is noted in cutaneous biopsy These signs have disappeared with corticosteroid treatment In conclusion Sweet s...

  11. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-04-01

    Full Text Available Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.

  12. Metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Gogia Atul

    2006-02-01

    Full Text Available The Metabolic syndrome is a widely prevalent and multi-factorial disorder. The syndrome has been given several names, including- the metabolic syndrome, the insulin resistance syndrome, the plurimetabolic syndrome, and the deadly quartet. With the formulation of NCEP/ATP III guidelines, some uniformity and standardization has occurred in the definition of metabolic syndrome and has been very useful for epidemiological purposes. The mechanisms underlying the metabolic syndrome are not fully known; however resistance to insulin stimulated glucose uptake seems to modify biochemical responses in a way that predisposes to metabolic risk factors. The clinical relevance of the metabolic syndrome is related to its role in the development of cardiovascular disease. Management of the metabolic syndrome involves patient-education and intervention at various levels. Weight reduction is one of the main stays of treatment. In this article we comprehensively discuss this syndrome- the epidemiology, pathogenesis, clinical relevance and management. The need to do a comprehensive review of this particular syndrome has arisen in view of the ever increasing incidence of this entitiy. Soon, metabolic syndrome will overtake cigarette smoking as the number one risk factor for heart disease among the US population. Hardly any issue of any primary care medical journal can be opened without encountering an article on type 2 diabetes, dyslipidemia or hypertension. It is rare to see type 2 diabetes, dyslipidemia, obesity or hypertension in isolation. Insulin resistance and resulting hyperinsulinemia have been implicated in the development of glucose intolerance (and progression to type 2 diabetes, hypertriglyceridemia, hypertension, polycystic ovary yndrome, hypercoagulability and vascular inflammation, as well as the eventual development of atherosclerotic cardiovascular disease manifested as myocardial infarction, stroke and myriad end organ diseases. Conversely

  13. Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Bockeria O.L.

    2015-03-01

    Full Text Available Brugada syndrome is characterized by sudden death associated with one of several ECG patterns including incomplete right bundle-branch block and ST-segment elevation in the anterior precordial leads. According to the ECG patterns there are three types of Brugada syndrome. Brugada syndrome is genetically determined and has an autosomal dominant pattern of transmission in about 50% of familial cases. Nowadays implantation of cardioverter-defibrillator is the only proven method of sudden cardiac death prevention.

  14. Velocardiofacial syndrome.

    OpenAIRE

    Pike, A. C.; Super, M.

    1997-01-01

    Velocardiofacial syndrome is a syndrome of multiple anomalies that include cleft palate, cardiac defects, learning difficulties, speech disorder and characteristic facial features. It has an estimated incidence of 1 in 5000. The majority of cases have a microdeletion of chromosome 22q11.2. The phenotype of this condition shows considerable variation, not all the principal features are present in each case. Identification of the syndrome can be difficult as many of the anomalies are minor and ...

  15. Primary cutaneous myoepithelial carcinoma

    DEFF Research Database (Denmark)

    Frost, Markus Winther; Steiniche, Torben; Damsgaard, Tine Engberg;

    2013-01-01

    This study describes a case of primary myoepithelial carcinoma of the skin and reviews the available literature on this topic. Myoepitheliomas and carcinomas arise most frequently from myoepithelial cells within the salivary glands but are found in many anatomical locations. We documented a case of...... an 80-year-old man with a 2 × 2 × 1 cm tumour located on the scalp. This tumour emerged over a period of 2 months. The tumour was radically excised, and histological examination revealed a cutaneous myoepithelial carcinoma. At an 18-month follow-up, no recurrence of the tumour was found. A systematic...... literature search identified 23 papers that reported 58 cases of cutaneous myoepitheliomas and myoepithelial carcinomas. All cases are reviewed in the presented paper. This case report and literature review serves to increase awareness regarding myoepithelial carcinomas. These tumours exhibit high metastatic...

  16. Birt-Hogg-Dubé syndrome: Clinical and molecular aspects of recently identified kidney cancer syndrome.

    Science.gov (United States)

    Hasumi, Hisashi; Baba, Masaya; Hasumi, Yukiko; Furuya, Mitsuko; Yao, Masahiro

    2016-03-01

    Birt-Hogg-Dubé syndrome is an autosomal dominantly inherited disease that predisposes patients to develop fibrofolliculoma, lung cysts and bilateral multifocal renal tumors, histologically hybrid oncocytic/chromophobe tumors, chromophobe renal cell carcinoma, oncocytoma, papillary renal cell carcinoma and clear cell renal cell carcinoma. The predominant forms of Birt-Hogg-Dubé syndrome-associated renal tumors, hybrid oncocytic/chromophobe tumors and chromophobe renal cell carcinoma are typically less aggressive, and a therapeutic principle for these tumors is a surgical removal with nephron-sparing. The timing of surgery is the most critical element for postoperative renal function, which is one of the important prognostic factors for Birt-Hogg-Dubé syndrome patients. The folliculin gene (FLCN) that is responsible for Birt-Hogg-Dubé syndrome was isolated as a novel tumor suppressor for kidney cancer. Recent studies using murine models for FLCN, a protein encoded by the FLCN gene, and its two binding partners, folliculin-interacting protein 1 (FNIP1) and folliculin-interacting protein 2 (FNIP2), have uncovered important roles for FLCN, FNIP1 and FNIP2 in cell metabolism, which include AMP-activated protein kinase-mediated energy sensing, Ppargc1a-driven mitochondrial oxidative phosphorylation and mTORC1-dependent cell proliferation. Birt-Hogg-Dubé syndrome is a hereditary hamartoma syndrome, which is triggered by metabolic alterations under a functional loss of FLCN/FNIP1/FNIP2 complex, a critical regulator of kidney cell proliferation rate; a mechanistic insight into the FLCN/FNIP1/FNIP2 pathway could provide us a basis for developing new therapeutics for kidney cancer. PMID:26608100

  17. Sheehan syndrome

    Science.gov (United States)

    Postpartum hypopituitarism; Postpartum pituitary insufficiency; Hypopituitarism Syndrome ... Malee MP. Pituitary and adrenal disorders in pregnancy. In: Gabbe ... Problem Pregnancies . 6th ed. Philadelphia, PA: Elsevier Mosby; ...

  18. What Is Down Syndrome?

    Science.gov (United States)

    ... NDSS Home » Down Syndrome » What Is Down Syndrome? What Is Down Syndrome? In every cell in the ... chromosome 21 causes the characteristics of Down syndrome. What Causes Down Syndrome? Regardless of the type of ...

  19. Marfan Syndrome (For Teens)

    Science.gov (United States)

    ... How Can I Help a Friend Who Cuts? Marfan Syndrome KidsHealth > For Teens > Marfan Syndrome Print A ... a genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, ...

  20. Down Syndrome: Eye Problems

    Science.gov (United States)

    ... En Español Read in Chinese What causes Down syndrome? Down syndrome is caused by a duplication of all ... in persons with Down syndrome. How common is Down syndrome? The frequency of Down syndrome is approximately 1 ...

  1. Proteus Syndrome Foundation

    Science.gov (United States)

    ... Gift Stock Gift Sunshine Society Contact Privacy Policy Proteus Syndrome Foundation The Proteus Syndrome Foundation , a 501c3 ... 1 Trial with ARQ 092 in Proteus Syndrome Proteus Syndrome Patient Registry The Proteus Syndrome Foundation Contact ...

  2. 伴痣样基底细胞癌综合征的牙源性角化囊性瘤中PTCH2基因的突变检测%PTCH2 gene alterations in keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome

    Institute of Scientific and Technical Information of China (English)

    徐丽莉; 李铁军

    2008-01-01

    目的:检测伴痣样基底细胞癌综合征(nevoid basal cell carcinoma syndrome,NBCCS)牙源性角化囊性瘤(keratocystic odontogenic tumor,KCOT)中是否存在PTCH2基因的异常.方法:收集15例NBCCS相关的KCOT患者的新鲜病变组织和外周血标本,提取DNA,采用PCR直接测序法进行PTCH2的突变分析.结果:发现2例尚未报道的错义突变(c.323 T>C,c.1319 C>T),分别引起1个氨基酸的改变,另发现9处PTCH2的多态性位点,其中3处为尚未报道的新位点.结论:虽然在NBCCS患者中PTCH2突变不如PTCH1突变频发,但少数NBCCS相关的KCOT患者可发生PTCH2的胚系突变,其病理学意义有待进一步研究.

  3. Imaging in Cushing's syndrome

    International Nuclear Information System (INIS)

    Once the diagnosis of Cushing's syndrome (CS) has been established, the main step is to differentiate between ACTH dependent and independent disease. In adults, 80% of CS is due to ACTH-dependent causes and 20% due to adrenal causes. ACTH-secreting neoplasms cause ACTH-dependent CS. These are usually anterior pituitary microadenomas, which result in the classic Cushing's disease. Non-pituitary ectopic sources of ACTH, such as a small-cell lung carcinoma or carcinoid tumours, are the source of the remainder of ACTH-dependent disease. In the majority of patients presenting with clinical and biochemical evidence of CS, modern non-invasive imaging can accurately and efficiently provide the cause and the nature of the underlying pathology. Imaging is essential for determining the source of ACTH in ectopic ACTH production, locating the pituitary tumours and distinguishing adrenal adenomas, carcinomas and hyperplasias. In our chapter we review the adrenal appearances in ACTH-dependent and ACTH-independent CS. We also include a discussion on the use of MRI and CT for the detection and management of pituitary ACTH secreting adenomas. CT of the chest, abdomen and pelvis with intravenous injection of contrast medium is the most sensitive imaging modality for the identification of the ectopic ACTH source and detecting adrenal pathology. MRI is used for characterising adrenal adenomas, problem solving in difficult cases and for detecting ACTH-secreting pituitary adenomas. (author)

  4. Lynch syndrome: still not a familiar picture

    Directory of Open Access Journals (Sweden)

    Hes Frederik J

    2008-02-01

    Full Text Available Abstract Background Germ line mutations in mismatch repair genes underlie Lynch syndrome and predispose carriers for colorectal carcinoma and malignancies in many other organ systems. Case presentation A large Lynch syndrome family with 15 affected family members and involvement in 7 organs is reported. It illustrates a lack of awareness and knowledge about this hereditary tumor syndrome among doctors as well as patients. None of the described family members underwent presymptomatic screening on the basis of the family history. Conclusion Hereditary features, like young age at diagnosis, multiple tumors in multiple organs and a positive family history, should lead to timely referral of suspected cases for genetic counseling and diagnostics. For Lynch syndrome, these features can be found in the Amsterdam and Bethesda criteria. Subsequently, early identification of mutation carriers might have diminished, at least in part, the high and early morbidity and mortality observed in this family.

  5. Unusual presentation of uncommon disease: anorexia nervosa presenting as wernicke-korsakoff syndrome-a case report from southeast Asia.

    Science.gov (United States)

    Mushtaq, Raheel; Shoib, Sheikh; Shah, Tabindah; Bhat, Mudasir; Singh, Randhir; Mushtaq, Sahil

    2014-01-01

    Anorexia nervosa presenting as Wernicke-Korsakoff syndrome is rare. The causes of Wernicke-Korsakoff syndrome are multiple like alcohol abuse, thyrotoxicosis, haemodialysis, severe malnutrition because of gastric carcinoma and pyloric obstruction, hyperemesis gravidarum, and prolonged parenteral feeding. We report a case of anorexia nervosa, who presented with Wernicke's encephalopathy and progressed to Korsakoff's syndrome. Knowledge, awareness, and early intervention of anorexia nervosa by mental health professionals can prevent development of Wernicke-Korsakoff syndrome. PMID:24963430

  6. Reversible Posterior Leukoencephalopathy Syndrome Induced by Pazopanib

    Directory of Open Access Journals (Sweden)

    Chelis Leonidas

    2012-10-01

    Full Text Available Abstract Background The reversible posterior leukoencephalopathy syndrome is a clinical/radiological syndrome characterized by headache, seizures, impaired vision, acute hypertension, and typical magnetic resonance imaging findings. There are several reports in the literature that depict its occurrence in cancer patients. The list of common anticancer and supportive care drugs that predispose to reversible posterior leukoencephalopathy syndrome is expanding and includes not only a large number of chemotherapeutic agents but also an increased number of new targeted drugs, particularly angiogenesis inhibitors such as bevacizumab,sorefenib and sunitinib. Pazopanib is an oral tyrosine kinase inhibitor targeting vascular endothelial growth factor receptor, platelet-derived growth factor receptor, and c-Kit which after a positive phase III randomized clinical trial in patients with advanced renal cell cancer received FDA approval for the treatment of advanced renal cell carcinoma. Until now no cases of reversible posterior leukoencephalopathy syndrome induced by pazopanib have been reported. Case report We present the case of a 40 years old female patient with heavily pre-treated metastatic renal cell carcinoma who received pazopanib as salvage treatment. After 21 days of pazopanib therapy the patient referred to the emergency department with epileptic seizure, impaired vision at both eyes and headache. MRI of the brain revealed subcortical oedema at the occipital and parietal lobes bilaterally. She was treated with anticonvulsants, i.v. administration of mannitol and antihypertensives and she recovered completely from her symptoms and was discharged on the tenth hospital day. A brain MRI performed 3 weeks after showed that the subcortical oedema had been subsided. Conclusion In conclusion this is the first case of pazopanib induced reversible posterior leukoencephalopathy syndrome. Although usually reversible, this syndrome is a serious and

  7. Reversible Posterior Leukoencephalopathy Syndrome Induced by Pazopanib

    International Nuclear Information System (INIS)

    The reversible posterior leukoencephalopathy syndrome is a clinical/radiological syndrome characterized by headache, seizures, impaired vision, acute hypertension, and typical magnetic resonance imaging findings. There are several reports in the literature that depict its occurrence in cancer patients. The list of common anticancer and supportive care drugs that predispose to reversible posterior leukoencephalopathy syndrome is expanding and includes not only a large number of chemotherapeutic agents but also an increased number of new targeted drugs, particularly angiogenesis inhibitors such as bevacizumab,sorefenib and sunitinib. Pazopanib is an oral tyrosine kinase inhibitor targeting vascular endothelial growth factor receptor, platelet-derived growth factor receptor, and c-Kit which after a positive phase III randomized clinical trial in patients with advanced renal cell cancer received FDA approval for the treatment of advanced renal cell carcinoma. Until now no cases of reversible posterior leukoencephalopathy syndrome induced by pazopanib have been reported. We present the case of a 40 years old female patient with heavily pre-treated metastatic renal cell carcinoma who received pazopanib as salvage treatment. After 21 days of pazopanib therapy the patient referred to the emergency department with epileptic seizure, impaired vision at both eyes and headache. MRI of the brain revealed subcortical oedema at the occipital and parietal lobes bilaterally. She was treated with anticonvulsants, i.v. administration of mannitol and antihypertensives and she recovered completely from her symptoms and was discharged on the tenth hospital day. A brain MRI performed 3 weeks after showed that the subcortical oedema had been subsided. In conclusion this is the first case of pazopanib induced reversible posterior leukoencephalopathy syndrome. Although usually reversible, this syndrome is a serious and potentially life threatening adverse effect, if untreated, that should

  8. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ravinder K. Gupta, Ritu Gupta, Sunil Dutt Sharma

    2006-10-01

    Full Text Available Turner Syndrome is one of the important chromosomal disorders characterised by loss (total or part ofsex chromosome. The manifestations being peripheral edema, short stature, extra skin fold, webbing ofneck, renal and cardiovascular anomalies, sexual infantilism, learning disability etc. We present here aone month female baby who had classical features of Turner Syndrome. The karyotape analysis wasconsistent with the diagnosis.

  9. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Akcan AB.

    2013-06-01

    Full Text Available Turner syndrome is an important cause of short stature in girls and primer amenorrhea in young women that is usually caused by loss of part or all of an X chromosome. This topic will review the clinical manifestations, diagnosis and management of Turner syndrome.

  10. Tourette Syndrome.

    Science.gov (United States)

    Look, Kathy

    Tourette Syndrome has a history of being misdiagnosed or undiagnosed due to its unusual and complex symptoms. This paper describes: the symptoms of Tourette Syndrome; its etiology; age of onset; therapeutic methods, such as drug therapy, psychotherapy, diet control, and hypnosis; educational implications; and employment prospects. Several…

  11. Antiphospholipid syndrome

    DEFF Research Database (Denmark)

    Cervera, Ricard; Piette, Jean-Charles; Font, Josep;

    2002-01-01

    To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression.......To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression....

  12. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    George Renu

    1993-01-01

    Full Text Available A case of proteus syndrome in a 20 year old male is repoted. Hemihypertrophy, asymmetric megalodactyly, linear epidermal naevus, naevus flammeus, angiokeratoma, lymphangioma circumscriptum, thickening of the palms and soles, scoliosis and varicose veins were present. There are only few reports of these cases in adults. The syndrome has not been reported from India.

  13. Burnout Syndrome

    OpenAIRE

    Panova, Gordana; Panov, Nenad; Stojanov, H; Sumanov, Gorgi; Panova, Blagica; Stojanovski, Angel; Nikolovska, Lence; Jovevska, Svetlana; Trajanovski, D; Asanova, D

    2013-01-01

    Introduction: Increasing work responsibilities, allocation of duties, loss of energy and motivation in everyday activities, emotional exhaustion, lack of time for themselves, insuffi cient time for rest and recreation, dissatisfaction in private life. All these symptoms can be cause of Burnout Syndrome. Aim: To see the importance of this syndrome, the consequences of job dissatisfaction, the environment, family and expression in drastic chan...

  14. Poland syndrome

    Directory of Open Access Journals (Sweden)

    Chandra Madhur Sharma

    2014-01-01

    Full Text Available Poland′s syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India.

  15. Noonan Syndrome

    Directory of Open Access Journals (Sweden)

    Sanjeev K. Digra, Deep Aman Singh, Vikram Gupta, Ghanshyam Saini

    2004-10-01

    Full Text Available We report a 11 year old boy and his father both Noonan’s. Noonan syndrome occurs in 1 out of 2000live births. Short stature, webbing of neck, pectus carinatum or pectus excavatum, hypertelorismcubitus valgus, epicanthus, downward slanted palpebral fissures, ptosis, microganthia and earabnormalities are the common features of Noonan syndrome.

  16. Bloom's Syndrome

    Science.gov (United States)

    ... Niemann-Pick Disease, Type A Spinal Muscular Atrophy Tay-Sachs Disease Usher Syndrome, Type 1F and Type III ... Niemann-Pick Disease, Type A Spinal Muscular Atrophy Tay-Sachs Disease Usher Syndrome, Type 1F and Type III ...

  17. Invasive fungal infections in endogenous Cushing’s syndrome

    Directory of Open Access Journals (Sweden)

    Rafael Selbach Scheffel

    2010-06-01

    Full Text Available Cushing’s syndrome is a condition characterized by elevated cortisol levels that can result from either augmented endogenous production or exogenous administration of corticosteroids. The predisposition to fungal infections among patients with hypercortisolemia has been noted since Cushing’s original description of the disease. We describe here a patient with endo-genous Cushing’s syndrome secondary to an adrenocortical carcinoma, who developed concomitant disseminated cryptococcosis and candidiasis in the course of his disease.

  18. Tumors in Rubinstein-Taybi syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Miller, R.W. [National Cancer Institute, Bethesda, MD (United States); Rubinstein, J.H. [Univ. of Cincinnati College of Medicine, OH (United States)

    1995-03-13

    The 14 tumors reported in Rubinstein-Taybi syndrome since 1989, when added to the 22 previously reported, are beginning to show a pattern of neural and developmental tumors, especially of the head, which is malformed in the syndrome. Among the neoplasms were 12 of the nervous system: 2 each of oligodendroglioma, medulloblastoma, neuroblastoma, and 3 other benign tumors; 2 of nasopharyngeal rhabdomyosarcoma; and 1 each of leiomyosarcoma, seminoma, and embryonal carcinoma. Among the other benign tumors were an ondontoma, a choristoma, a dermoid cyst, and 2 pilomatrixomas. 20 refs., 1 tab.

  19. Primary subglottic carcinoma

    International Nuclear Information System (INIS)

    Primary subglottic carcinoma is rare with a uniformly poor prognosis. We present our experience of eight such cases treated over a period of ten years. One patient had a mucoepidermoid carcinoma while the rest has a squamous cell carcinoma. A combination of surgery and radiotherapy was employed in five cases, while one case underwent radiotherapy only, surgery only and salvage surgery following radical irradiation. Three cases died of locoregional failure within a year. The remaining five patients have been disease-free for six months to 3.5 years. (author). 15 refs., 1 tab

  20. Sarcomatoid renal cell carcinoma

    OpenAIRE

    Kafil Akhtar; Ahmad Shamshad; Zaheer Sufian; Mansoor Tariq

    2011-01-01

    Sarcomatoid renal cell carcinoma (SRCC) is an aggressive tumor variant thought to arise predominantly from differentiation of clear cell carcinoma. A few reports of SRCC asso-ciated with non-clear cell tumors led to the presumption that SRCC may arise from any renal cell carcinoma, although direct evidence of this is lacking. We report a case of a 70-year-old male patient, who presented with acute left upper quadrant abdominal pain and was diagnosed to have SRCC after pathological examination...

  1. Salivary gland carcinomas

    DEFF Research Database (Denmark)

    Therkildsen, M H; Andersen, L J; Christensen, M;

    1998-01-01

    The prognosis of salivary gland carcinomas is difficult to assess. Simple mucin-type carbohydrates (T and sialosyl-T antigens, Tn and sialosyl-Tn antigens) have been shown to be of value in predicting prognosis for carcinomas in other locations. We studied the prognostic significance of the...... expression of these structures in a retrospective study of 133 patients with salivary gland carcinomas, using immunohistochemistry and a panel of well-defined monoclonal antibodies (MAbs) on formalin-fixed paraffin-embedded tissues. Sialosyl-Tn, T and sialosyl-T antigens were not correlated with prognosis...

  2. Cancer and treatment related pains in patients with cervical carcinoma

    Directory of Open Access Journals (Sweden)

    Das Saikat

    2005-01-01

    Full Text Available Pain in carcinoma cervix is a multidimensional experience with sensory, affective and cognitive-evaluative components. Many patients do not receive adequate pain management because of a lack of proper assessment, misconceptions regarding the pharmacologic and non pharmacologic methods of pain management and failure to distinguish between different types of pain. In our audit pelvic and nodal recurrence were the commonest cause of pain presenting as as pelvic pain, [42%], lumbosacral plexopathy [40%] and abdominal pain [34%] [n = 30]. Pain on defaecation caused by rectal obstruction, and suprapubic pain due to pyometra can be relieved by colostomy and drainage. Very little literature is available on the pain syndromes associated with carcinoma cervix. The present article is a review of cancer and treatment related pains in carcinoma cervix.

  3. Ectopic corticotroph syndrome

    Directory of Open Access Journals (Sweden)

    Penezić Zorana

    2004-01-01

    Full Text Available INTRODUCTION Endogenous Cushing's syndrome is a clinical state resulting from prolonged, inappropriate exposure to excessive endogenous secretion of Cortisol and hence excess circulating free cortisol, characterized by loss of the normal feedback mechanisms of the hypothalamo-pituitary-adrenal axis and the normal circadian rhythm of cortisol secretion [2]. The etiology of Cushing's syndrome may be excessive ACTH secretion from the pituitary gland, ectopic ACTH secretion by nonpituitary tumor, or excessive autonomous secretion of cortisol from a hyperfunctioning adrenal adenoma or carcinoma. Other than this broad ACTH-dependent and ACTH-independent categories, the syndrome may be caused by ectopic CRH secretion, PPNAD, MAH, ectopic action of GIP or catecholamines, and other adrenel-dependent processes associated with adrenocortical hyperfunction. CASE REPORT A 31 year-old men with b-month history of hyperpigmentation, weight gain and proximal myopathy was refereed to Institute of Endocrinology for evaluation of hypercortisolism. At admission, patient had classic cushingoid habit with plethoric face, dermal and muscle atrophy, abdominal strie rubrae and centripetal obesity. The standard laboratory data showed hyperglycaemia and hypokaliemia with high potassium excretion level. The circadian rhythm of cortisol secretion was blunted, with moderately elevated ACTH level, and without cortisol suppression after low-dose and high-dose dexamethason suppression test. Urinary 5HIAA was elevated. Abdominal and sellar region magnetic resonance imaging was negative. CRH stimulation resulted in ACTH increase of 87% of basal, but without significant increase of cortisol level, only 7%. Thoracal CT scan revealed 14 mm mass in right apical pulmonary segment. A wedge resection of anterior segment of right upper lobe was performed. Microscopic evaluation showed tumor tissue consisting of solid areas of uniform, oval cells with eosinophilic cytoplasm and centrally

  4. Thymic carcinoma in myasthenia gravis developing years after thymectomy.

    Science.gov (United States)

    Katzberg, Hans D; Miller, Robert G; Katz, Jonathan

    2009-07-01

    We report two patients with myasthenia gravis (MG) who underwent thymectomy but developed thymic carcinoma years after the initial surgery. In one patient, the initial thymic pathology was normal, whereas the other had an encapsulated benign thymoma that was found only on pathological assessment. These cases demonstrate that MG may occur as part of a "new" paraneoplastic syndrome even after thymectomy. The late appearance of metastatic thymoma raises questions about monitoring for these patients. PMID:19533649

  5. Lethal midline granuloma syndrome: a diagnostic dilemma

    International Nuclear Information System (INIS)

    The rare lethal midline granuloma syndrome is difficult to diagnose because of the wide array of related diseases and lack of knowledge by the majority of physicians. In the present report, the authors describe the case of a patient with this disease, caused by squamous cell carcinoma, drawing attention to differential diagnoses and to clinical and radiological findings that may be useful to define the diagnosis. (author)

  6. Lethal midline granuloma syndrome: a diagnostic dilemma

    Energy Technology Data Exchange (ETDEWEB)

    Ribeiro, Bruno Niemeyer de Freitas; Bahia, Paulo Roberto Valle [Radiology, Hospital Universitario Clementino Fraga Filho - Universidade Federal do Rio de Janeiro (HUCFF-UFRJ), Rio de Janeiro, RJ (Brazil); Oliveira, Ana Luiza Vianna Sobral de Magalhaes [Resident of Medical Practice, Hospital Federal da Lagoa, Rio de Janeiro, RJ (Brazil); Marchon Junior, Joao Luiz [Unit of Computed Tomography, Hospital Federal da Lagoa, Rio de Janeiro, RJ (Brazil)

    2012-11-15

    The rare lethal midline granuloma syndrome is difficult to diagnose because of the wide array of related diseases and lack of knowledge by the majority of physicians. In the present report, the authors describe the case of a patient with this disease, caused by squamous cell carcinoma, drawing attention to differential diagnoses and to clinical and radiological findings that may be useful to define the diagnosis. (author)

  7. Carcinoma of the thyroid

    International Nuclear Information System (INIS)

    The natural history and the clinical findings in 227 patients with thyroid carcinoma are described and the etiology discussed. The need for uniform pathologic classification and staging is emphasized. (Auth.)

  8. Merkel Cell Carcinoma

    Science.gov (United States)

    ... of the Year Award Arnold P. Gold Foundation Humanism in Medicine Award Diversity Mentorship Program Eugene Van ... 300 PUVA treatments. What causes Merkel cell carcinoma? Scientists are still studying what causes this skin cancer. ...

  9. MEDULLARY THYROID CARCINOMA

    OpenAIRE

    V S Medvedev; P. A. Isayev; Ilyin, A. A.; D. Yu. Semin; V. V. Polkin; D. N. Derbugov; S. V. Vasilkov

    2013-01-01

    Medullary thyroid carcinoma belongs to orphan diseases affecting a small part of the population. Multicenter trials are required to elaborate a diagnostic algorithm, to define treatment policy, and to predict an outcome.

  10. MEDULLARY THYROID CARCINOMA

    Directory of Open Access Journals (Sweden)

    V. S. Medvedev

    2013-01-01

    Full Text Available Medullary thyroid carcinoma belongs to orphan diseases affecting a small part of the population. Multicenter trials are required to elaborate a diagnostic algorithm, to define treatment policy, and to predict an outcome.

  11. Renal cell carcinoma

    Science.gov (United States)

    Renal cell carcinoma is a type of kidney cancer that starts in the lining of very small tubes (tubules) in the kidney. ... cancer; Kidney cancer; Hypernephroma; Adenocarcinoma of renal cells; Cancer - kidney

  12. Kounis syndrome.

    Science.gov (United States)

    Ntuli, P M; Makambwa, E

    2015-10-01

    Kounis syndrome is characterised by a group of symptoms that manifest as unstable vasospastic or non-vasospastic angina secondary to a hypersensitivity reaction. It was first described by Kounis and Zavras in 1991 as the concurrence of an allergic response with an anaphylactoid or anaphylactic reaction and coronary artery spasm or even myocardial infarction. Since then, this condition has evolved to include a number of mast cell activation disorders associated with acute coronary syndrome. There are many triggering factors, including reactions to multiple medications, exposure to radiological contrast media, poison ivy, bee stings, shellfish and coronary stents. In addition to coronary arterial involvement, Kounis syndrome comprises other arterial systems with similar physiologies, such as mesenteric and cerebral circulation resulting in ischaemia/infarction of the vital organs. The incidence of this condition is difficult to establish owing to the number of potential instigating factors and its relatively infrequent documentation in the literature.We report the case of an HIV-negative 39-year-old man with no coronary risk factors or family history of premature coronary artery disease, who developed Kounis syndrome after the administration of fluoroquinolone for dysuria. However, to the best of our knowledge,no data on the incidence and prevalence of Kounis syndrome in South Africa have ever been reported in the literature. The recent understanding of Kounis syndrome has led to the condition being classified into three syndrome variants. PMID:26636160

  13. A black adrenocortical adenoma causing Cushing's syndrome not imaged by radiocholesterol scintigraphy

    International Nuclear Information System (INIS)

    In a 33-year-old female patient with left adrenal tumour and Cushing's syndrome, adrenocortical scintigraphy with radiocholesterol did not image the tumour nor the suppressed contralateral gland. Histology showed a black adrenocortical adenoma composed only of compact cells; there was no evidence of malignancy. This demonstrates that non-visualization of the adrenal glands in a patient with Cushing's syndrome is not invariably due to adrenal carcinoma. The literature on black adrenal adenomas causing Cushing's syndrome is reviewed. (orig.)

  14. Pancoast syndrome: A rare presentation of non-Hodgkin′s lymphoma

    Directory of Open Access Journals (Sweden)

    Anirban Sarkar

    2013-01-01

    Full Text Available Pancoast syndrome is a common presentation of bronchogenic carcinoma, but other malignancies are rarely cited as its cause. Pancoast syndrome due to non-Hodgkin′s lymphoma is rarely described in the literature. Here, we report a case of Pancoast syndrome due to non-Hodgkin′s lymphoma to increase the awareness of the clinicians regarding essentiality of tissue diagnosis of Pancoast tumor before starting the treatment.

  15. Radiotherapy of anal carcinomas

    International Nuclear Information System (INIS)

    Report is given on radiotherapy of anal carcinomas. Own experiences and a review of the recent literature are presented. Prior to surgery radiotherapy with high energy electrons in combination with chemotherapy is in the foreground. Especially in cloacogenous carcinoma no residual tumor was found after preliminary irradiation. Our recommended conception of post-operative radiotherapy of the regional lymphatic draining vessels is outlined. (orig./MG)

  16. Papillary thyroid carcinoma

    DEFF Research Database (Denmark)

    Godballe, C; Asschenfeldt, P; Sørensen, J A;

    1994-01-01

    The age influence on the prognosis of papillary thyroid carcinoma was analyzed in a group of 67 patients. A marked decline in cause-specific survival was found for patients older than 60 years of age at the time of diagnosis. In order to find a tumor-biological explanation of the prognostic...... invasion and distant metastases. The results indicate that 60 years of age the time of diagnosis may be the "prognostic break-point" for papillary thyroid carcinoma....

  17. HYDROLETHALUS SYNDROME

    Directory of Open Access Journals (Sweden)

    Aradhana

    2013-06-01

    Full Text Available INTRODUCTION: Hydrolethalus Syndrome (HLS is a rare lethal genetic syndrome, recognized as a consequence of a study on Meckle syndrome in Finland .1 HLS is characterized by multiple developmental defects of fetus which include fetal hydrocephalus, agenesis of corpus callosum, absent midline structures of brain, Cleft lip and cleft palate, defective lobulation of lungs, micrognathia and very characteristic abnormality of polydactyly. About 80% of patients have polydactyly, in hands it is postaxial and preaxial in feet with duplicated big toe. A highly characteristic hallux duplex is seen in almost no other situation .2 Club feet is also common.

  18. Neuroacanthocytosis Syndromes

    Directory of Open Access Journals (Sweden)

    Walker Ruth H

    2011-10-01

    Full Text Available Abstract Neuroacanthocytosis (NA syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes

  19. [Pulmonary sarcomatoid carcinoma].

    Science.gov (United States)

    Antoine, Martine; Vieira, Thibault; Fallet, Vincent; Hamard, Cécile; Duruisseaux, Michael; Cadranel, Jacques; Wislez, Marie

    2016-01-01

    Pulmonary sarcomatoid carcinomas are a rare group of tumors accounting for about one percent of non-small cell lung carcinoma (NSCLC). In 2015, the World Health Organization classification united under this name all the carcinomas with sarcomatous-like component with spindle cell or giant cell appearance, or associated with a sarcomatous component sometimes heterologous. There are five subtypes: pleomorphic carcinoma, spindle cell carcinoma, giant cell carcinoma, carcinosarcoma and pulmonary blastoma. Clinical characteristics are not specific from the other subtypes of NSCLC. Epithelial to mesenchymal transition pathway may play a key role. Patients, usually tobacco smokers, are frequently symptomatic. Tumors are voluminous more often peripherical than central, with strong fixation on FDG TEP CT. Distant metastases are frequent with atypical visceral locations. These tumors have poorer prognosis than the other NSCLC subtypes because of great aggressivity, and frequent chemoresistance. Here we present pathological description and a review of literature with molecular features in order to better describe these tumors and perhaps introduce new therapeutics. PMID:26778815

  20. Endocrine neoplasms in familial syndromes of hyperparathyroidism.

    Science.gov (United States)

    Li, Yulong; Simonds, William F

    2015-06-01

    Familial syndromes of hyperparathyroidism, including multiple endocrine neoplasia type 1 (MEN1), multiple endocrine neoplasia type 2A (MEN2A), and the hyperparathyroidism-jaw tumor (HPT-JT), comprise 2-5% of primary hyperparathyroidism cases. Familial syndromes of hyperparathyroidism are also associated with a range of endocrine and nonendocrine tumors, including potential malignancies. Complications of the associated neoplasms are the major causes of morbidities and mortalities in these familial syndromes, e.g., parathyroid carcinoma in HPT-JT syndrome; thymic, bronchial, and enteropancreatic neuroendocrine tumors in MEN1; and medullary thyroid cancer and pheochromocytoma in MEN2A. Because of the different underlying mechanisms of neoplasia, these familial tumors may have different characteristics compared with their sporadic counterparts. Large-scale clinical trials are frequently lacking due to the rarity of these diseases. With technological advances and the development of new medications, the natural history, diagnosis, and management of these syndromes are also evolving. In this article, we summarize the recent knowledge on endocrine neoplasms in three familial hyperparathyroidism syndromes, with an emphasis on disease characteristics, molecular pathogenesis, recent developments in biochemical and radiological evaluation, and expert opinions on surgical and medical therapies. Because these familial hyperparathyroidism syndromes are associated with a wide variety of tumors in different organs, this review is focused on those endocrine neoplasms with malignant potential. PMID:27207564

  1. Wall paintings facies and their possible genetic correlates in the ancient Pompeii: A bio-anthropologic message from the past?

    Science.gov (United States)

    Ponti, Giovanni; Manfredini, Marco; Ruini, Cristel

    2016-09-10

    The figurative arts and precisely the ancient Pompeian wall paintings portraits can provide an additional source of information in supplementing bio-anthropological studies. There are several genetic diseases with a wide spectrum of congenital bone stigmata in association to distinctive facial features. Gorlin-Goltz syndrome, also named nevoid basal cell carcinoma syndrome, is an autosomal dominant syndrome characterized by unusual skeletal changes, such as macrocephaly, facial asymmetry, hypertelorism, frontal and parietal bossing caused by germline mutations of the gene PTCH1. The Gorlin syndrome, clinically defined in 1963, existed during Dynastic Egyptian times, as revealed by a spectrum of skeletal findings compatible with the syndrome in mummies dating back to three thousand years ago and, most likely, in the ancient population of Pompeii. In the present research, we discuss the potential relationship between Pompeian wall paintings portrait and the cranio-metric bone changes revealed among the Pompeian skull collections assuming that the ancient portraits can constitute an important tool that should be strictly integrated with osteologic and biomolecular data in order to argue a syndromic diagnosis in ancient population. PMID:27107679

  2. Piriformis syndrome

    Science.gov (United States)

    ... Wallet sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... medical help immediately if: You have sudden severe pain in your lower back or legs, along with muscle weakness or numbness ...

  3. Rett syndrome

    Science.gov (United States)

    An infant with Rett syndrome usually has normal development for the first 6 to 18 months. Symptoms range from ... of social engagement Ongoing, severe constipation and gastroesophageal reflux (GERD ) Poor circulation that can lead to cold ...

  4. Gardner Syndrome

    Science.gov (United States)

    ... syndromes. For more information, talk with an assisted reproduction specialist at a fertility clinic. How common is ... detected X-ray or computed tomography (CT or CAT) scan of the small bowel if adenomas are ...

  5. Piriformis Syndrome

    Science.gov (United States)

    ... syndrome occurs when this muscle presses on your sciatic nerve (the nerve that goes from your spinal cord ... cause the piriformis muscle to press against the sciatic nerve, such as sitting, walking up stairs or running. ...

  6. Marfan Syndrome

    Science.gov (United States)

    ... caved-in look. He also wore glasses for myopia (say: my-OH-pee-uh), or nearsightedness, which ... syndrome, this "glue" is weaker than normal. This causes changes in many systems of the body, but ...

  7. Aase syndrome

    Science.gov (United States)

    ... a provider who has experience treating anemias. A bone marrow transplant may be necessary if other treatment fails. ... counseling is recommended if you have a family history of this syndrome and wish to become pregnant.

  8. Hunter syndrome

    Science.gov (United States)

    ... to your health care provider for more information. Bone marrow transplant has been tried for the early-onset form, ... to have children and who have a family history of Hunter syndrome. Prenatal testing is available. Carrier ...

  9. Hurler syndrome

    Science.gov (United States)

    ... to your health care provider for more information. Bone marrow transplant has been used in several people with this ... Call your provider if: You have a family history of Hurler syndrome and are considering having children ...

  10. [Heptopulmonary syndrome].

    Science.gov (United States)

    Cuadrado, Antonio; Díaz, Ainhoa; Iruzubieta, Paula; Salcines, José Ramón; Crespo, Javier

    2015-01-01

    Hepatopulmonary syndrome is characterized by the presence of liver disease, pulmonary vascular dilatations, and arterial hypoxemia. It is usually associated with cirrhosis of any origin, but has been described in other liver diseases, both acute and chronic, and not always associated with portal hypertension. The gold standard method to detect pulmonary vascular dilations is contrast enhancement echocardiography with saline and is essential for the diagnosis of hepatopulmonary syndrome. These dilatations reflect changes in the pulmonary microvasculature (vasodilatation, intravascular monocyte accumulation, and angiogenesis) and induce a ventilation/perfusion mismatch, or even true intrapulmonary shunts, which eventually trigger hypoxemia. This syndrome worsens patients' prognosis and impairs their quality of life and may lead to the need for liver transplantation, which is the only effective and definitive treatment. In this article, we review the etiological, pathophysiological, clinical and therapeutic features of this syndrome. PMID:25840463

  11. Turcot Syndrome

    Science.gov (United States)

    ... procedure done in conjunction with in-vitro fertilization (IVF). It allows people who carry a specific known ... screening? If you are concerned about your family history and think your family may have Turcot syndrome, ...

  12. Levator Syndrome

    Science.gov (United States)

    ... 2 Diabetes, Heart Disease a Dangerous Combo Are 'Workaholics' Prone to OCD, Anxiety? ALL NEWS > Resources First ... are variations of levator syndrome. The muscle spasm causes pain that typically is not related to defecation. ...

  13. Pendred Syndrome

    Science.gov (United States)

    ... Health & Human Services National Institutes of Health Search Search form Search A–Z Index Español Menu Home ... children, the thyroid is important for normal growth and development. Children with Pendred syndrome, however, rarely have problems ...

  14. Goodpasture syndrome

    Science.gov (United States)

    ... glomerulonephritis with pulmonary hemorrhage; Pulmonary renal syndrome; Glomerulonephritis - pulmonary hemorrhage ... when urinating Nausea and vomiting Pale skin Swelling (edema) in any area of the body, especially in the legs

  15. Tourette Syndrome

    Science.gov (United States)

    ... methylphenidate and clonidine in children with ADHD and tics. Developing New Treatments for Tourette Syndrome: Clinical and Basic Science Dialogue Publicaciones en Español Síndrome de Tourette Prepared ...

  16. Alport Syndrome

    Science.gov (United States)

    ... syndrome diagnosed? Your healthcare provider will have to watch your signs, symptoms, and look at your family ... 05/2016 - 10:00am Philadelphia, PA Kidney Camp Sun, 07/17/2016 - 6:00pm Ingleside, IL Register ...

  17. Barth Syndrome

    DEFF Research Database (Denmark)

    Saric, Ana; Andreau, Karine; Armand, Anne-Sophie;

    2016-01-01

    Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (CM) (often dilated), skeletal muscle weakness, neutropenia, growth retardation, and 3-methylglutaconic aciduria. Biopsies of the heart...

  18. [DIDMOAD syndrome].

    Science.gov (United States)

    Alicanoğlu, R; Canbakan, B; Yildiz, N; Arikan, E; Kundur, H; Bahtiyar, K; Sayali, E

    1994-01-01

    The DIDMOAD or so called Wolfram syndrome is a hereditary disease with autosomal-recessive transmission showing 4 main features: diabetes mellitus, diabetes insipidus, nervus opticus atrophia and deafness. Beside this it shows multiple organ involvement. Our 38-year old male patient, showing all above mentioned features except deafness had urinary tract involvement and neurological symptoms. EEG, cerebral MRI, tests with evoked potentials and HLA-typing were performed to discuss the aetiopathogenetic background in our patient. Almost all symptoms of the Wolfram syndrome can be mixed up with complications of diabetes mellitus, which is usually the first symptom of the Wolfram syndrome. Because of this, wrong diagnosis is not rare. Hence in differential diagnosis in any diabetes mellitus type I patient, the possibility of the Wolfram syndrome should be discussed. PMID:8023526

  19. Heyde's syndrome

    Directory of Open Access Journals (Sweden)

    Perišić Nenad

    2006-01-01

    Full Text Available Background: Heyde's syndrome implies an association of calcified aortic stenosis with the high gradient of pressure and angiodysplasic bleeding from the digestive tract. It has been proven that in patients with this syndrome, acquired form of von Willebrand type II A develops. Replacing of aortic valves by artificial ones brings about the spontaneous retreat of coagulation disorder, and the stoppage of the digestive tract bleeding. Case report. We reported two patients with the Heyde's syndrome. In one of the patients the aortic valves were replaced by biologic valves, after which the digestive tract bleeding stopped, while the second patient was treated conservatively due to a high operation risk. Conclusion. Patients with Heyde's syndrome are a complex multidisciplinary problem, thus their adequate treatment requires a team work in order to provide the most rational type of therapy for each patient separately.

  20. Reifenstein syndrome

    Science.gov (United States)

    ... male sex hormones (androgens). Testosterone is a male sex hormone. This disorder is a type of androgen insufficiency syndrome. ... Donohoue PA. Disorders of sex development. In: Kliegman RM, Stanton ... J, Schor N, Behrman RE, eds. Nelson Textbook of Pediatrics . ...

  1. HELLP syndrome

    Science.gov (United States)

    ... out of 1,000 pregnancies. In women with preeclampsia or eclampsia , the condition develops in 10 to ... have high blood pressure and are diagnosed with preeclampsia before they develop HELLP syndrome. In some cases, ...

  2. Mucosal neuroma syndrome--a phenotype for malignancy.

    OpenAIRE

    White, M P; Goel, K M; Connor, J M; Coutts, N A

    1985-01-01

    The mucosal neuroma syndrome is characterised by a typical physical appearance, neuromata on tongue and buccal mucosa, and a high risk of developing medullary thyroid carcinoma and phaeochromocytoma. A case is described and the importance of early recognition for prevention of malignancy is stressed.

  3. Kindler syndrome

    OpenAIRE

    Kaviarasan P; Prasad P; Shradda; Viswanathan P

    2005-01-01

    Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderm...

  4. Turner Syndrome

    OpenAIRE

    Ramachandran Sudarshan; G Sree Vijayabala; KS Prem Kumar

    2012-01-01

    Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate th...

  5. Pendred's syndrome

    International Nuclear Information System (INIS)

    This report describes Pendred's syndrome in three siblings of a consanguineous marriage, belonging to Rahimyar Khan. The children presented with deafmutism and goiters. The investigations included scintigram, perchlorate discharge test and audiometery. The perchlorate discharge was positive in index case. Bilateral sensorineural hearing defect was detected on Pure Tone Average (PTA) audiometry. Meticulous clinical and laboratory evaluation is mandatory for the detection of rare disorders like Pendred's syndrome. (author)

  6. Simultaneous Development of Renal Cell Carcinoma and Multifocal Urothelial Carcinoma

    OpenAIRE

    Cheng-Keng Chuang; Heng-Chang Chuang; Kwai-Fong Ng

    2008-01-01

    Simultaneous occurrence of multifocal urothelial carcinoma (UC) and ipsilateral renalcell carcinoma (RCC) is rare. We report a 67-year-old woman with multifocal, infiltratingurothelial carcinoma and unilateral renal cell carcinoma. She was referred to our departmentbecause of painless gross hematuria. Cystoscopy, computed tomography and retrogradepyelography studies revealed bladder, bilateral renal and ureter UC. She was treated withtransurethral resection of the bladder tumor followed by bi...

  7. Turner Syndrome: Other FAQs

    Science.gov (United States)

    ... NICHD Research Information Clinical Trials Resources and Publications Turner Syndrome: Other FAQs Skip sharing on social media links ... been diagnosed with Turner syndrome. Now what? Is Turner syndrome inherited? Turner syndrome is usually not inherited, but ...

  8. Learning about Down Syndrome

    Science.gov (United States)

    ... for the genetic terms used on this page Learning About Down Syndrome What is Down syndrome? What ... Down syndrome? People who have Down syndrome have learning difficulties, mental retardation, a characteristic facial appearance, and ...

  9. Burning Mouth Syndrome

    Science.gov (United States)

    ... OralHealth > Topics > Burning Mouth Syndrome > Burning Mouth Syndrome Burning Mouth Syndrome Main Content Key Points Symptoms Diagnosis Primary and Secondary BMS Treatment Helpful Tips Key Points Burning mouth syndrome is burning pain in the mouth that may ...

  10. Medullary and papillary carcinoma of the thyroid gland occurring as a collision tumor with lymph node metastasis: A case report

    Directory of Open Access Journals (Sweden)

    Sadat Alavi Mehr

    2011-12-01

    Full Text Available Abstract Introduction Papillary thyroid carcinoma and medullary thyroid carcinoma are two different thyroid neoplasia. The simultaneous occurrence of medullary thyroid carcinoma and papillary thyroid carcinoma as a collison tumor with metastases from both lesions in the regional lymph nodes is a rare phenomenon. Case presentation A 32-year-old Iranian man presented with a fixed anterior neck mass. Ultrasonography revealed two separate thyroid nodules as well as a suspicious neck mass that appeared to be a metastatic lesion. The results of thyroid function tests were normal, but the preoperative calcitonin serum value was elevated. Our patient underwent a total thyroidectomy with neck exploration. Two separate and ill-defined solid lesions grossly in the right lobe were noticed. Histological and immunohistochemical studies of these lesions suggested the presence of medullary thyroid carcinoma and papillary thyroid carcinoma. The lymph nodes isolated from a neck dissection specimen showed metastases from both lesions. Conclusions The concomitant occurrence of papillary thyroid carcinoma and medullary thyroid carcinoma and the exact diagnosis of this uncommon event are important. The treatment strategy should be reconsidered in such cases, and genetic screening to exclude multiple endocrine neoplasia 2 syndromes should be performed. For papillary thyroid carcinoma, radioiodine therapy and thyroid-stimulating hormone suppressive therapy are performed. However, the treatment of medullary thyroid carcinoma is mostly radical surgery with no effective adjuvant therapy.

  11. Síndrome de lisis tumoral en un paciente con cáncer de riñón tratado con sunitinib Tumor lysis syndrome in a patient with a renal carcinoma treated with sunitinib

    Directory of Open Access Journals (Sweden)

    Ezequiel Rodríguez-Reimúndes

    2011-04-01

    Full Text Available El síndrome de lisis tumoral (SLT es un trastorno metabólico que ocurre como consecuencia de una destrucción celular masiva. Se caracteriza por la presencia de hiperuricemia, hiperfosfatemia, hipocalcemia e hiperkalemia, y predispone al desarrollo de insuficiencia renal aguda. En la mayoría de los casos el SLT ocurre luego de instaurarse un tratamiento antitumoral y es más frecuente en tumores de alto grado de malignidad y alta sensibilidad a la quimioterapia. Presentamos el caso de un paciente con diagnóstico de cáncer de riñón recidivado que presenta un SLT e insuficiencia renal aguda luego de iniciar tratamiento con sunitinib.The tumor mor lysis syndrome (TLS is a metabolic disorder resulting from a massive tumor breakdown. It is characterized by hyperuricemia, hyperphosphatemia, hypocalcemia and hyperkalemia and predisposes to acute renal failure. TLS usually occurs after the initiation of cytotoxic therapy and is more frequent in the case of neoplasias with a high proliferative rate or that are highly chemo-sensitive. We report the case of a man with a recurrent kidney cancer who presented with a TLS and acute renal failure after initiation of sunitinib.

  12. Support Vector Machine Based on microRNA Expression Profiles to Predict Histological Origin of Ampullary Carcinoma: Case Report of a Patient Affected From Adenocarcinoma of the Papilla of Vater With Lynch Syndrome.

    Science.gov (United States)

    Tavano, Francesca; Copetti, Massimiliano; Piepoli, Ada; Carella, Massimo; Gentile, Annamaria; Burbaci, Francesca Paola; Fontana, Andrea; De Bonis, Antonio; di Mola, Fabio Francesco; di Sebastiano, Pierluigi; Andriulli, Angelo

    2016-04-01

    Adenocarcinomas of Vater's papilla (PVAC) may originate from either the pancreatic duct or the intestinal epithelium. Conflicting data have been reported about the frequency of the 2 anatomical entities and their influence on patients' prognosis. To ascertain the anatomical origin of PVAC in a family member of a Lynch syndrome kindred, we searched for microRNA (miRNA) expression profiles on resected tumor specimens. The support vector machine was trained on our previous miRNAs expression data sets of pancreatic and colorectal tissue samples and used to classify the site of origin of the tumor in our patient. The support vector machine worked by contrasting the profiles of miRNAs in patients with pancreatic ductal and colorectal cancers to that of our patient, which was finally classified as pancreatic ductal adenocarcinoma accordingly to alterations of 55 miRNAs. The PVAC might be originated from ductal epithelium rather than from the intestinal mucosa of the papilla in the case at issue. Alteration of miR-548b-3p, miR-551a, miR-21, miR-92a, miR-let-7i, and miR-181a* emerged as potentially associated with cancer genetic susceptibility in PVAC. PMID:26954494

  13. Aldosterone-secreting adrenal cortical carcinoma. A case report and review of the literature.

    Science.gov (United States)

    Griffin, Adrienne Carruth; Kelz, Rachel; LiVolsi, Virginia A

    2014-09-01

    Adrenal cortical carcinomas (ACC) are rare, typically aggressive malignant neoplasms with a reported incidence of 1-2 cases per 1 million population and account for 0.05-0.2 % of all malignancies. The majority of these tumors are functional with approximately 60 % of patients experiencing endocrine symptomatology typically characterized by Cushing's syndrome (40 %) or a mixed hormonal picture of Cushing syndrome seen in association with virilization. Rarely, patients present with a pure hormonal syndrome of feminization or hyperaldosteronism, 6 and 2.5 %, respectively. We report a case of a 76-year-old woman presenting with recently diagnosed hypertension secondary to primary hyperaldosteronism. The patient underwent laparoscopic converted to an open adrenalectomy and a diagnosis of adrenocortical carcinoma (aldosteronoma clinical) was rendered. This case and review of the literature highlight that while rare, aldosterone-secreting adrenal cortical carcinomas may occur. In this case report, we discuss the clinical presentation, pathologic findings, and review the literature for adrenal cortical carcinomas and aldosterone-secreting adrenal cortical carcinomas. PMID:24682757

  14. Carcinoma papilar tiroideo variante esclerosante difuso Diffuse Sclerosing Variant of Papillary Thyroid Carcinoma

    Directory of Open Access Journals (Sweden)

    JL D'Addino

    2012-06-01

    cervical lump. No relevant previous medical or family history. On ultrasound, thyroid nodule, heterogeneous thyroid. A fine needle aspiration of a regional node was reported as adenocarcinoma and that of the thyroid nodule as a colloid cyst. Right radical neck dissection was performed. The intra-operatory biopsy revealed thyroid carcinoma; therefore, left neck dissection and total thyroidectomy were undertaken. Histopathology reported "diffuse sclerosing papillary carcinoma with metastasis to 5 of 6 right perithyroid lymph nodes and to 7 of 9 cervical lymph nodes, 4 on the right and 3 on the left. Stage: I, T3-N1b-M0". The patient received 3 doses of iodine 131 as well as external radiotherapy due to mediastinal mass. Follow-up at 6 months (to present reveals he remains disease free. Thyroid gland enlargement and an increased prevalence of nodules is observed in subjects with insulin resistance and metabolic syndrome. Insulin and TSH are growth factors for thyroid cells, and TSH levels are higher in people with metabolic syndrome, present in this patient. Conclusion: The diffuse sclerosing carcinoma is a rare tumour of uncertain origin, with aggressive behavior, early extrathyroid invasion and distant metastasis. No financial conflicts of interest exist.

  15. Pfeiffer syndrome

    Directory of Open Access Journals (Sweden)

    Fryns Jean-Pierre

    2006-06-01

    Full Text Available Abstract Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.

  16. Antiphospholipid syndrome.

    Science.gov (United States)

    Ruiz-Irastorza, Guillermo; Crowther, Mark; Branch, Ware; Khamashta, Munther A

    2010-10-30

    The antiphospholipid syndrome causes venous, arterial, and small-vessel thrombosis; pregnancy loss; and preterm delivery for patients with severe pre-eclampsia or placental insufficiency. Other clinical manifestations are cardiac valvular disease, renal thrombotic microangiopathy, thrombocytopenia, haemolytic anaemia, and cognitive impairment. Antiphospholipid antibodies promote activation of endothelial cells, monocytes, and platelets; and overproduction of tissue factor and thromboxane A2. Complement activation might have a central pathogenetic role. Of the different antiphospholipid antibodies, lupus anticoagulant is the strongest predictor of features related to antiphospholipid syndrome. Therapy of thrombosis is based on long-term oral anticoagulation and patients with arterial events should be treated aggressively. Primary thromboprophylaxis is recommended in patients with systemic lupus erythematosus and probably in purely obstetric antiphospholipid syndrome. Obstetric care is based on combined medical-obstetric high-risk management and treatment with aspirin and heparin. Hydroxychloroquine is a potential additional treatment for this syndrome. Possible future therapies for non-pregnant patients with antiphospholipid syndrome are statins, rituximab, and new anticoagulant drugs. PMID:20822807

  17. PREGNANCY WITH CARCINOMA CERVIX

    Directory of Open Access Journals (Sweden)

    Sunita

    2014-05-01

    Full Text Available : Invasive cervical cancer during pregnancy is rare, but is a dilemma for women and their physicians. Pregnancy provides a good opportunity to the obstetrician to screen the patient for cervical neoplasia. We report a case of pregnancy with carcinoma cervix. A 40 years old lady G5P3+1 presented in casualty at 38 weeks 2 days with bleeding per vaginum. On examination she was stage III b Carcinoma Cervix with term pregnancy. She underwent classical cesarean section followed by EBRT and brachytherapy. The main objective of this case report is to highlight the need of doing cervical screening routinely in pregnancy in a low resource setting also to decrease the burden of carcinoma cervix in society

  18. Simultaneous Laryngeal Squamous Cell Carcinoma and Papillary Thyroid Carcinoma

    Directory of Open Access Journals (Sweden)

    Bighan Khademi

    2011-04-01

    Full Text Available The association of squamous cell carcinoma of the larynx with thyroid papillary carcinoma is an unusual finding. From 2004 to 2011, approximately 250 patients underwent laryngectomies due to squamous cell carcinoma of the larynx at the Otolaryngology Department of Khalili Hospital, affiliated with Shiraz University of Medical Sciences, Shiraz, Iran. In three patients, synchronous occurrence of squamous cell carcinoma and thyroid papillary carcinoma was found. Histopathologic study of the lymph nodes revealed metastatic papillary thyroid carcinoma in one case. We report three cases of thyroid papillary carcinoma incidentally found on histological examinations of resected thyroid lobes, as a procedure required for treatment of head and neck squamous cell carcinoma. In comparison, laryngeal squamous cell carcinoma needs more aggressive treatment than well-differentiated thyroid carcinoma. The prevalence of thyroid papillary carcinoma, as an incidental finding in our study was 0.01%. Therefore, preoperative evaluation of the thyroid gland by ultrasonography and fine needle aspiration biopsy of suspicious lesions is recommended in patients who are candidates for open laryngectomy.

  19. Primary fallopian tube carcinoma

    Directory of Open Access Journals (Sweden)

    Mladenović-Segedi Ljiljana

    2009-01-01

    Full Text Available Introduction. Primary fallopian tube carcinoma is extremely rare, making 0.3-1.6% of all female genital tract malignancies. Although the etymology of this tumor is unknown, it is suggested to be associated with chronic tubal inflammation, infertility, tuberculous salpingitis and tubal endometriosis. High parity is considered to be protective. Cytogenetic studies show the disease to be associated with over expression of p53, HER2/neu and c-myb. There is also some evidence that BRCA1 and BRCA2 mutations have a role in umorogeneis. Clinical features. The most prevailing symptoms with fallopian tube carcinoma are abdominal pain, abnormal vaginal discharge/bleeding and the most common finding is an adnexal mass. In many patients, fallopian tube carcinoma is asymptomatic. Diagnosis. Due to its rarity, preoperative diagnosis of primary fallopian tube carcinoma is rarely made. It is usually misdiagnosed as ovarian carcinoma, tuboovarian abscess or ectopic pregnancy. Sonographic features of the tumor are non-specific and include the presence of a fluid-filled adnexal structure with a significant solid component, a sausage-shaped mass, a cystic mass with papillary projections within, a cystic mass with cog wheel appearance and an ovoid-shaped structure containing an incomplete separation and a highly vascular solid nodule. More than 80% of patients have elevated pretreatment serum CA-125 levels, which is useful in follow-up after the definite treatment. Treatment. The treatment approach is similar to that of ovarian carcinoma, and includes total abdominal hysterectomy and bilateral salpingo-oophorectomy. Staging is followed with chemotherapy.

  20. Carcinoma suprarrenal gigante Giant suprarenal carcinoma

    Directory of Open Access Journals (Sweden)

    Ariel Núñez Roca

    2010-06-01

    Full Text Available OBJETIVO: presentar un caso de carcinoma suprarrenal de gran tamaño, su diagnóstico y tratamiento. DESCRIPSIÓN: se presenta un paciente del sexo masculino, de 69 años de edad, con antecedentes de diabetes mellitus tipo II que refería palparse un tumor abdominal. Al examen físico tenía un tumor palpable en la fosa lumbar y flanco izquierdos de aproximadamente 15 a 16 cm de diámetro. El tumor se corroboró en el ultrasonido, por lo que fue necesario realizar la tomografía axial computadorizada simple y contrastada para establecer el origen suprarrenal de este. Se comprobaron niveles elevados de cortisol en plasma. INTERVENSIÓN: se realizó la suprarrenalectomía más la nefrectomía izquierdas. La evolución posoperatoria resultó satisfactoria. El informe histopatológico de la pieza quirúrgica fue carcinoma suprarrenal con infiltración renal. Se indicó tratamiento de quimioterapia con mitotano con posterioridad a la cirugía. En los controles semestral y anual realizados, el paciente se encontró asintomático y con niveles de cortisol sanguíneo normales. El ultrasonido, la tomografía axial computadorizada del abdomen y la radiografía del tórax no mostraron recidiva tumoral ni metástasis. CONCLUSIONES: los carcinomas suprarrenales pueden evolucionar de forma asintomática hasta alcanzar grandes dimensiones. El tratamiento combinado, quirúrgico y con quimioterapia, mejora el pronóstico de estos pacientes.OBJECTIVE: this is the presentation of a case of a very large suprarenal carcinoma. DESCRIPTION: a male patient aged 69 with a history of type 2 diabetes mellitus mentioning the palpation of a abdominal tumor. At physical examination we noted the presence of a palpable tumor in lumbar fossa and left flanks of approximately 15 to 16 cm diameter. Ultrasound corroborated the tumor being necessary to perform a single and contrasted computed tomography to establish its suprarenal origin. There were high levels of cortisol in plasma

  1. Radiological diagnostics in CUP syndrome

    International Nuclear Information System (INIS)

    , diffusion), e.g. investigation of breast carcinoma or prostate carcinoma. Whole body staging stands at the beginning of the diagnostic algorithm in CUP syndrome to localize a potential primary tumor. Clinically, contrast-enhanced CT of the neck, thorax and abdomen is frequently applied; however, many studies have demonstrated augmented sensitivity of 18F-FDG PET-CT for the detection of primary tumors and metastatic tumor manifestations. (orig.)

  2. Maxillary sinus carcinoma

    International Nuclear Information System (INIS)

    Primary site control, anatomical site of failure, survival, and complications of treatment were determined in a retrospective review of primary maxillary sinus carcinoma. Sixty-one patients were treated by radiation followed by surgery and 35 by radiation alone. Primary tumor control was achieved in 69% of patients receiving combined treatment, 14% of patients treated with radiation alone, and 49% of all patients. Local control did not differ with histological type. Virtually all epidermoid and undifferentiated carcinoma recurrences occurred within 2 years, but 27% of adenocarcinomas recurred after 2 years

  3. Primary adrenal sarcomatoid carcinoma

    Directory of Open Access Journals (Sweden)

    Aftab S. Shaikh

    2014-03-01

    Full Text Available Adrenal sarcomatoid carcinomas are extremely rare tumors presenting with extensive locoregional spread at the time of diagnosis. Patients succumb to metastases within a couple of months. As a result, very few cases are reported in the literature until now. We present a case of a 62-year old female with non-functional sarcomatoid carcinoma of the right adrenal gland. There was no radiological evidence of locoregional metastases. Patient underwent right adrenalectomy. Follow up after 3 months showed para-aortic lymphadenopathy and similar left adrenal mass on computed tomography. Patient refused further treatment and succumbed to the disease. A brief case report with review of literature is presented.

  4. Nonfunctioning adrenocortical carcinoma.

    Directory of Open Access Journals (Sweden)

    Lele S

    1992-07-01

    Full Text Available The rarity of adrenocortical carcinoma prompted us to report a case who came with a history of swelling in the left flank associated with pain, weakness and loss of appetite. Ultrasonography revealed a left retroperitoneal mass which was removed by radical surgery along with the left kidney and spleen. On histopathological examination, a diagnosis of adrenocortical carcinoma was made. (Hough criteria score 2.97. The cells of the tumor were arranged in closely packed columns and cords supported by fibrovascular stroma. There was no evidence of metastasis.

  5. Serotonin Syndrome

    Directory of Open Access Journals (Sweden)

    Harold Muñoz Cortés

    2004-08-01

    Full Text Available The serotonin syndrome is a clinical condition associated with serotonin agonists, prescribed to treat some psychiatric and non psychiatric diseases like affective, anxiety and pain disorders. Is due to an excessive stimulation of central and peripheral serotonin receptors that leads to mental, autonomic and neuromuscular changes. Usually the disorder resolves within the first 24 hours after the medications are discontinued, however some patients progress to a multiple organ failure and die. This paper is a theoretical review of the fundamental aspects of the serotonin syndrome, beginning with a brief review of the anatomic and physiologic features of serotonin system, to continue to examine the most relevant historic, diagnosis, clinical and treatment aspects of the syndrome.

  6. Postconcussional Syndrome

    Directory of Open Access Journals (Sweden)

    Necla Keskin

    2013-02-01

    Full Text Available Postconcussional syndrome is characterized by somatic, cognitive and psychiatric (emotional, behavioral symptoms that occurs after mild traumatic brain injury. It has been known that these symptoms recover fully within 3-6 months almost in 90% of patients. Although its etiology is still controversial, biological, psychological and social factors may account for the development and continuation of the symptoms. Diagnosis is based on the subjective complaints. To find out an objective method for definite diagnosis, trials searching for both neuroimaging and specific serum biomarkers stil continue. The treatment of the syndrome is mainly of palliative nature. Information, education, reassurance and multifaceted rehabilitation programmes can be beneficial. There are promising trials reporting the effectiveness of cognitive behavioral therapy in the treatment of postconcussional syndrome. [Archives Medical Review Journal 2013; 22(1.000: 96-109

  7. Nutcracker syndrome

    International Nuclear Information System (INIS)

    Purpose: The purpose of this case study is to highlight the symptoms of the Nutcracker Syndrome (NCS), the methods of clinical investigations and the importance of differential diagnosis. Introduction: The NCS refers to left renal vein entrapment caused by abnormal branching patterns of the superior mesenteric artery from the aorta.1,2 Clinical case presentation: A 27 years old female presented to the emergency department with complaints of abdominal discomfort, bloating, loose bowel motions and irregular micro-haematuria. The radiologist's report indicated the findings from computed tomography examination to be consistent with anterior NCS. Discussion: In most of the NCS cases the clinical symptoms are non-specific.3 The syndrome is caused by a vascular disorder, but its clinical manifestation can relate to a wide range of abdominal, urological, endovascular or gynaecological pathologies.4 Conclusion: Nutcracker Syndrome is a relatively rare disease and underdiagnosed may lead to left renal vein thrombosis

  8. Refeeding syndrome

    Directory of Open Access Journals (Sweden)

    Tripathy Swagata

    2008-01-01

    Full Text Available We report a case of a fifty-year-old male who was admitted with a three month history of increasing weakness, prostration, decreasing appetite and inability to swallow. The patient was a chronic alcoholic, unemployed, and of very poor socioeconomic background. The patient was initially investigated for upper GI malignancy, Addisons disease, bulbar palsy and other endocrinopathies. Concurrent management was started for severe electrolyte abnormalities and enteral nutritional supplementation was begun. By the fourth day of feeding patient developed severe hypophosphatemia and other life-threatening features suggesting refeeding syndrome. The patient was managed for the manifestations of refeeding syndrome. A final diagnosis of chronic alcoholic malnutrition with refeeding syndrome was made. Refeeding of previously starving patients may lead to a variety of complications including sudden death.

  9. Eagle's Syndrome

    Directory of Open Access Journals (Sweden)

    Pinheiro, Thaís Gonçalves

    2014-01-01

    Full Text Available Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical.

  10. Waardenburg syndrome

    Directory of Open Access Journals (Sweden)

    Tagra Sunita

    2006-01-01

    Full Text Available Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features of the syndrome, have been depicted in the pedigree.

  11. [Eisenmenger syndrome].

    Science.gov (United States)

    Jensen, Annette Schophuus; Iversen, Kasper; Vejlstrup, Niels G; Hansen, Peter Bo; Søndergaard, Lars

    2009-04-01

    Congenital heart disease with left-to-right shunt can induce proliferation, vasoconstriction and thrombosis in the pulmonary vascular bed. Eventually, the patient may develop Eisenmenger syndrome defined as pulmonary arterial hypertension caused by high pulmonary vascular resistance with right-to-left shunt and cyanosis. Patients with Eisenmenger syndrome suffer a high risk of complications in connection with acute medical conditions, extra-cardiac surgery and pregnancy. This article describes the precautions that should be taken to reduce morbidity and mortality in these patients. PMID:19416617

  12. Rapunzel syndrome

    International Nuclear Information System (INIS)

    An 18-year-old single female patient, presented with non specific gastrointestinal symptoms of anorexia, abdominal pain, and change in bowel habit. Clinically she was anemic, cachectic, and depressed. Abdominal examination revealed mobile epigastric mass. The scalp alopecia and endoscopy coupled by computed tomography scan, confirmed the diagnoses of trichobezoar, but it was not diagnosed as Rapunzel syndrome except after laparotomy, gastrotomy, and enterotomy. There are less than 16 cases of Rapunzel syndrome described worldwide, and this is the first case to be described in the middle east. (author)

  13. Joubert syndrome

    International Nuclear Information System (INIS)

    Joubert syndrome is a rare malformation of the posterior fossa, mainly affecting the cerebellar vermis, which generally appears as a dysplastic lesion. Other structures of the cervico medullary junction may be involved, with accompanying brainstem hypoplasia according to neuroimaging studies. The diagnosis is usually reached during, childhood, based on a constellation of changes in the child's neurological development that are supported by the results of imaging studied. Respiratory problems are the most common signs in newborns,leading to the suspicion of the presence of this syndrome. (Author) 11 refs

  14. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan

    2012-08-01

    Full Text Available Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate their possible management. [Archives Medical Review Journal 2012; 21(4.000: 246-252

  15. Eisenmengers syndrom

    DEFF Research Database (Denmark)

    Jensen, Annette Schophuus; Iversen, Kasper; Vejlstrup, Niels G;

    2009-01-01

    Congenital heart disease with left-to-right shunt can induce proliferation, vasoconstriction and thrombosis in the pulmonary vascular bed. Eventually, the patient may develop Eisenmenger syndrome defined as pulmonary arterial hypertension caused by high pulmonary vascular resistance with right......-to-left shunt and cyanosis. Patients with Eisenmenger syndrome suffer a high risk of complications in connection with acute medical conditions, extra-cardiac surgery and pregnancy. This article describes the precautions that should be taken to reduce morbidity and mortality in these patients. Udgivelsesdato...

  16. Olmsted syndrome

    Directory of Open Access Journals (Sweden)

    Kumar Pramod

    2008-01-01

    Full Text Available Olmsted syndrome is a rare disorder characterized by the combination of periorificial, keratotic plaques and bilateral palmoplantar keratoderma. New associated features are being reported. Olmsted syndrome is particularly rare in a female patient, and we report such a case in a six year-old Indian girl, who presented with keratoderma of her soles since birth and on her palms since the age of two years along with perioral and perinasal hyperkeratosis. She had sparse, light brown, thin hair. Although the psychomotor development of the child was normal until 18 months of age, the keratoderma plaques had restricted the child′s mobility after that stage.

  17. Eagle syndrome

    International Nuclear Information System (INIS)

    Eagle syndrome occurs due to elongation of the styloid process or calcification of the stylohyoid ligament, which then may produce a pain sensation due the pressure exerted on various structures in the head and neck. When suspected, imaging helps in identifying the abnormally elongated styloid process or the calcified ligament. In recent years, three-dimensional CT (3DCT) has proved to be valuable in these cases. We report the case of a 62-year-old man with this syndrome in whom imaging with 3DCT conclusively established the diagnosis

  18. Lemierre's syndrome.

    LENUS (Irish Health Repository)

    O'Dwyer, D N

    2012-02-01

    Lemierre\\'s syndrome is a rare disease that results in an oropharyngeal infection, which precipitates an internal jugular vein thrombosis and metastatic infection. Fusobacterium necrophorum is an anaerobic Gram-negative bacillus and has been identified as the causative agent. We describe the case of a young girl whose presentation and diagnosis were confounded by a history of valvular heart disease. Infection of heart valves can produce many of the signs and symptoms associated with Lemierre\\'s syndrome. We describe the diagnosis, investigation and optimal management of this rare disorder.

  19. Morbihan syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Veraldi

    2013-01-01

    Full Text Available We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks.

  20. Burnout syndrome

    OpenAIRE

    Bábská, Simona

    2014-01-01

    This bachelor thesis deals with the so-called burnout syndrome, which, as I believe, is getting to be a serious problem in today´s busy world. This issue deserves a full attention especially from those concerned – workers in assisting professions. What usually precedes the burnout syndrome is a big enthusiasm and motivation for work in which a potential patient can help other people and get them out of their troubles, sometimes he /she feels even like having a mission. However, without kno...

  1. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

    J.C. Vis; K. van Engelen; J. Timmermans; B.C. Hamel; B.J.M. Mulder

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome. Althou

  2. Basal Cell Carcinoma

    Science.gov (United States)

    ... resources Meet our partners Español Donate Diseases and treatments Acne and rosacea Bumps and growths Color problems Contagious skin diseases ... cell carcinoma public SPOT Skin Cancer™ Diseases and treatments Acne and rosacea Bumps and growths Color problems Contagious skin diseases ...

  3. Squamous Cell Carcinoma

    Science.gov (United States)

    ... resources Meet our partners Español Donate Diseases and treatments Acne and rosacea Bumps and growths Color problems Contagious skin diseases ... cell carcinoma public SPOT Skin Cancer™ Diseases and treatments Acne and rosacea Bumps and growths Color problems Contagious skin diseases ...

  4. Bronchogenic Carcinoma in Khartoum

    International Nuclear Information System (INIS)

    The prospective study was conducted in the period between April 1996 and April 1997, and included 26 with bronchogenic carcinoma. The diagnosis was proved histologically in 24 patients, and it was based on the clinico-radiological picture in the remainder two patients. The mean age was 49 years,SD ±16.5. The male:female ratio was 2.2:1.0. All five patients under thirty years were females. 13 patients(50%) were smokers. The mean duration of smoking was 28 years, SD±8. The mean number of cigarettes per day was 24, SD±11.8. Chest symptoms and signs were observed in 92% and 48% of patients respectively, and 10 patients(38%) showed evidence of metastases at diagnosis. Bronchioscopic was done in 11 patients and transthorasic needle biopsy in 6. The diagnosis in the remainder of patients was confirmed by operative biopsy, or pleural cytology, or pleural biopsy or by biopsy from secondaries. The histology revealed squamous cell carcinoma in 14 patients, small cell carcinoma in 5, adenocarcinoma in 3, large cell carcinoma in 2, and the histology was not obtained in two patients. Radiotherapy alone was given to 9 patients. Ten patients underwent surgery followed by radiotherapy in 5 patients and chemotherapy in 4. Only 10 patients survived for more than 3 months. One patient survived for more than one year after diagnosis.(Author)

  5. Trigeminal perineural spread of renal cell carcinoma

    Energy Technology Data Exchange (ETDEWEB)

    Hornik, Alejandro; Rosenblum, Jordan; Biller, Jose [Stritch School of Medicine, Loyola University Medical Center, Chicago (United States)

    2012-07-01

    A 55-year-old man had a five-day history of 'pins and needles' sensation on the left chin. Examination showed decreased pinprick sensation on the territory of the left mandibular branch of the trigeminal nerve. Brain magnetic resonance imaging (MRI) with gadolinium showed enhancement involving the left mandibular branch. Computed tomography (CT) of the chest, abdomen, and pelvis showed a left kidney mass diagnosed as renal carcinoma following nephrectomy. The 'numb-chin' syndrome heralds or accompanies systemic malignancies. Trigeminal perineural spread has been well-documented in head and neck neoplasms, however, to our knowledge, it has not been reported in renal neoplasms. (author)

  6. Metabolic Syndrome

    Science.gov (United States)

    ... If you already have metabolic syndrome, making these healthy lifestyle choices can help reduce your risk of heart disease and other health problems. If lifestyle changes alone can’t control your ... to help. Maintain a healthy weight Your doctor can measure your body mass ...

  7. Nephrotic Syndrome

    Science.gov (United States)

    ... use of certain legal and illegal drugs, or morbid obesity can lead to nephrotic syndrome. Symptoms Some kids ... KidsHealth® is for educational purposes only. For specific medical advice, diagnoses, and treatment, consult your doctor. © 1995- The Nemours Foundation. All ...

  8. Robinow Syndrome

    Directory of Open Access Journals (Sweden)

    Gökhan Gökalp

    2010-05-01

    Full Text Available Introduction: Robinow syndrome is characterized by dwarfism demonstrating short-limbed extremities, vertebral malsegmentation/malformation (hemivertebra, costal dysplasia, genital hypoplasia, and fetal facial appearance (wide and prominent forehead, hypertelorism, small and wide nose, molar hypoplasia, and retrognathia. It is a rare genetic disease which may present with either mild autosomal dominant form or severe recessive form. Vertebral and costal abnormalities are common diagnostic signs that may be severe. The disease presents with kyphoscoliosis and chest abnormalities along with thoracic vertebral fusion and hemivertebral appearance. Ribs may demonstrate fusion. Based on those involvements, the disease can be categorized as spondylothoracic, spondylocostal, ischiovertebral dysplasia, and cervicofaciothoracic syndrome.Diagnosis is established by the help of clinical characteristics. Radiography might contribute to the diagnosis by revealing changes in the skeletal system. Case Report: A three-year-old male patient presented with operated left undescendent testis and buried penis. On physical examination, he also had a dysmorphic face characterized by macrocephaly, hypertelorism, prominent eyes, a flattened nasal bridge, triangular-fish mouth, gingival hypertrophy and left hand clinodactyly. Radiographic examination documented mesomelic shortening of the radius-ulna, malsegmentation of the thoracal spine and the ribs fusion.Conclusion: Robinow syndrome is a rare syndrome which can be diagnosed by typical facial appearance and radiologic findings. (Journal of Current Pediatrics 2010; 8: 44-7

  9. Rett Syndrome.

    Science.gov (United States)

    Culbert, Linda A.

    This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

  10. Nodding Syndrome

    Centers for Disease Control (CDC) Podcasts

    2013-12-19

    Dr. Scott Dowell, a CDC director, discusses the rare illness, nodding syndrome, in children in Africa.  Created: 12/19/2013 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 1/27/2014.

  11. Usher Syndrome

    Science.gov (United States)

    ... of their hearing within the first year of life. Progressive vision loss caused by retinitis pigmentosa becomes occurs in childhood. ... type III have progressive hearing loss and vision loss beginning in the first few decades of life. Unlike the other forms of Usher syndrome, infants ...

  12. [Refeeding syndrome].

    Science.gov (United States)

    Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena

    2016-01-01

    Despite being known more than 60 years, refeeding syndrome (RS) still bears many uncertainties. For example, its definition is not clear and definite, and the attitude to it varies from the complete neglect to over-prevention.The term "refeeding syndrome" refers to electrolyte and metabolic changes occurring in malnourished patients after the readministration of nutrition. These changes concern especially to phosphates and ions. Potassium, magnesium, naturism and fluids balance are involved. The changes lead to cell energetic metabolism and electric potential disturbances, with related clinical symptoms.Fully developed refeeding syndrome is quite rare; nevertheless it can be fatal for the patient. However, even its development can lead to many complications increasing the patient's morbidity and the length of stay in the hospital. Yet the refeeding syndrome is more or less predictable and if kept in mind also preventable.The aim of this article is to get the reader to know more about this metabolic phenomenon and possible attitudes towards it. PMID:27088791

  13. Noonan syndrome.

    NARCIS (Netherlands)

    Burgt, I. van der

    2007-01-01

    Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set

  14. Metabolic syndrome

    Institute of Scientific and Technical Information of China (English)

    Charles Shaeffer

    2004-01-01

    @@ The emergence of cardiac disease as the number one world-wide cause of death justifies efforts to identify individuals at higher risk for preventive therapy. The metabolic syndrome, originally described by Reaven, 1 has been associated with higher cardiovascular disease risk. 2 Type Ⅱ diabetes is also a frequent sequela. 3

  15. Tourette Syndrome

    Science.gov (United States)

    ... writing, painting, or making music help focus the mind on other things. There's speculation that the composer Mozart had TS. Find support. The Tourette Syndrome Association sponsors support groups with others who understand the challenges of TS. Take control. People with TS can feel more in control ...

  16. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

    a variety of infectious complications. Rapid diagnosis and treatment is necessary to avoid severe complications or death. Close collaboration with local microbiologist is pivotal. Treatment consists of longterm treatment with penicillin and metronidazole. This is a case report of Lemierre's syndrome....

  17. Marfan syndrome masked by Down syndrome?

    OpenAIRE

    Mulder, B. J.; van Engelen, K.; Vis, J.C.; Timmermans, J.; Hamel, B C J

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome. Although variable expression is known to be present in Marfan syndrome, phenotypic expression of Marfan syndrome in our patient might be masked by the co-occurrence of Down syndrome. (Neth Heart J 2009;1...

  18. Percutaneous Cryoablation for Renal Cell Carcinoma

    Directory of Open Access Journals (Sweden)

    Tsitskari Maria

    2015-06-01

    Full Text Available Renal cell carcinoma (RCC is the most common type of kidney cancer in adults. Nephron sparing resection (partial nephrectomy has been the “gold standard” for the treatment of resectable disease. With the widespread use of cross sectional imaging techniques, more cases of renal cell cancers are detected at an early stage, i.e. stage 1A or 1B.  This has provided an impetus for expanding the nephron sparing options and especially, percutaneous ablative techniques.  Percutaneous ablation for RCC is now performed as a standard therapeutic nephron-sparing option in patients who are poor candidates for resection or when there is a need to preserve renal function due to comorbid conditions, multiple renal cell carcinomas, and/or heritable renal cancer syndromes. During the last few years, percutaneous cryoablation has been gaining acceptance as a curative treatment option for small renal cancers. Clinical studies to date indicate that cryoablation is a safe and effective therapeutic method with acceptable short and long term outcomes and with a low risk, in the appropriate setting.  In addition it seems to offer some advantages over radio frequency ablation (RFA and other thermal ablation techniques for renal masses.

  19. An exceptional case of myelodysplastic syndrome with myelofibrosis following combination chemotherapy for squamous cell lung cancer

    International Nuclear Information System (INIS)

    A 60-year-old woman with squamous cell carcinoma in the right lung was successfully treated with four cycles of combination chemotherapy after surgery, and complete remission was achieved. However, the patient developed myelodysplastic syndrome (MDS) RAEB-2 with myelofibrosis after remission, possibly because of chemotherapy or DNA methylation. The patient responded well to dacitabine (Dacogen), suggesting that DNA hypomethylation agents can be a promising therapy to retard the progression of a second tumor or carcinoma

  20. Ipsilateral synchronous renal cell carcinoma and transitional cell carcinoma.

    OpenAIRE

    Lee, J. W.; Kim, M. J.; Song, J H; Kim, J H; Kim, J. M.

    1994-01-01

    The simultaneous occurrence of renal cell carcinoma(RCC) and transitional cell carcinoma(TCC) in the same kidney is unusual. We report a 53-year-old man with ipsilateral synchronous renal adenocarcinoma and renal pelvic transitional cell carcinoma with severe hypercalcemia and a huge staghorn calculus in the opposite kidney. The patient was admitted to the hospital because of left flank pain and intermittent fever which he had had for 2 months. Computerized tomography revealed a huge stone in...

  1. Carcinoma mucoepidermóide Mucoepidermoid carcinoma

    Directory of Open Access Journals (Sweden)

    CRISTIANO FEIJÓ ANDRADE

    2002-11-01

    Full Text Available O carcinoma mucoepidermóide é uma neoplasia infreqüente da árvore traqueobrônquica e de etiologia ainda indeterminada. Sua localização endobrônquica preferencial freqüentemente causa sintomas respiratórios obstrutivos e pneumopatias de resolução lenta. Normalmente, são tumores de crescimento lento, mas que podem apresentar comportamento agressivo, com invasão local e metástases para linfonodos, dependendo das suas características histopatológicas. O tratamento de eleição é o cirúrgico, com ressecção completa, seja através de lobectomia ou broncotomia e broncoplastia. O prognóstico dependerá do grau de diferenciação celular desses tumores. Relata-se um caso dessa rara neoplasia descrevendo suas características clínicas, radiológicas e o tratamento cirúrgico.Mucoepidermoid carcinoma is an uncommon neoplasm of the tracheobronchial tree, of unknown etiology. Its preferred endobronchial location often results in respiratory symptoms such as obstruction of the airways and lung diseases of slow recovery. They usually are slow growing tumors although they may present an aggressive behavior with local invasion and lymph node metastases depending on their histopathologic characteristics. The mainstay therapy is complete surgical resection either by means of lobectomy or by lung sparing procedures such as bronchotomy and bronchoplasty. Prognosis depends upon the degree of cellular differentiation of the tumors. The authors report a case of this rare neoplasia and describe the clinical and radiographic characteristics, and the surgical treatment.

  2. Team practice for laryngeal carcinoma. Glottic carcinoma

    International Nuclear Information System (INIS)

    To compare the results of treatment performed with and without team practice in glottic laryngeal cancer patients, including local control rate and preservation of voice. Since April 1991, radiation oncologists, radiologists and otolaryngologists have worked in close collaboration to treat head and neck cancer patients in the Kurume University Hospital. Treatment results of a total of 419 patients with glottic cancer were compared with or without team practice. In group A (period, Jan 1978 to Mar 1991), 237 glottic laryngeal cancer patients were treated before team practice. In group B (period, Apr 1991 to Mar 1997), 182 patients were treated with team practice. All patients had histologically proven invasive squamous cell carcinoma. Follow-up period was at least 2 years. In group A, a laser was preferentially used for T1 lesions (T1a: 41 lesions, 52.6%, T1b: 7 lesions, 15.6%), and partial laryngectomy or total laryngectomy was preferentially used for T2 lesions (partial laryngectomy: 21 lesions, 30.9% and total laryngectomy: 10 lesions, 14.7%). On the other hand, in group B, 126 (81.8%) T1 and T2 lesions were treated with radical radiation with or without laser. Local control rate of T1 and T2 cancer improved significantly from 78.3% for group A patients to 91.2% for group B patients (p<0.01). Larynx preservation rate improved slightly from 88.6% to 95.0%. Five year cause-specific survival rate for all stage I to IV patients improved from 94.8% to 96.5%, but was not significant. Relapse-free survival rate improved significantly from group A to group B: from 75.1% to 87.4% (p<0.01). Team practice has effective results in improved local control and preservation of natural voice for patients with glottic carcinoma. (author)

  3. Severe paraneoplastic hypereosinophilia in metastatic renal cell carcinoma

    Directory of Open Access Journals (Sweden)

    Todenhöfer Tilman

    2012-03-01

    Full Text Available Abstract Background Renal cell carcinoma can cause various paraneoplastic syndromes including metabolic and hematologic disturbances. Paraneoplastic hypereosinophilia has been reported in a variety of hematologic and solid tumors. We present the first case in the literature of severe paraneoplastic hypereosinophilia in a patient with renal cell carcinoma. Case presentation A 46 year-old patient patient with a history of significant weight loss, reduced general state of health and coughing underwent radical nephrectomy for metastasized renal cell carcinoma. Three weeks after surgery, the patient presented with excessive peripheral hypereosinophilia leading to profound neurological symptoms due to cerebral microinfarction. Systemic treatment with prednisolone, hydroxyurea, vincristine, cytarabine, temsirolimus and sunitinib led to reduction of peripheral eosinophils but could not prevent rapid disease progression of the patient. At time of severe leukocytosis, a considerable increase of cytokines associated with hypereosinophilia was measurable. Conclusions Paraneoplastic hypereosinophilia in patients with renal cell carcinoma might indicate poor prognosis and rapid disease progression. Myelosuppressive therapy is required in symptomatic patients.

  4. Carcinoma triquilemal: relato de caso Trichilemmal carcinoma: case report

    OpenAIRE

    Miguel Roismann; Rosyane Rena de Freitas; Leandro Carvalho Ribeiro; Marcos Flávio Montenegro; Luciano José Biasi; Juliana Elizabeth Jung

    2011-01-01

    O carcinoma triquilemal é um tumor raro, que ocorre, geralmente, na pele exposta ao sol, principalmente face, couro cabeludo, pescoço e dorso das mãos, em indivíduos idosos, entre a 4ª e 9ª décadas de vida, sem predilação por sexo. O presente estudo mostra um caso de carcinoma triquilemal, recidivado, de difícil tratamento, em mesma topografia de um carcinoma basocelular tratado previamente com cirurgia e radioterapia.The trichilemmal carcinoma is a rare tumor that usually occurs on sun-expos...

  5. Paraneoplastic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Weller, R.E.

    1994-03-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.

  6. Waardenburg syndrome

    OpenAIRE

    Mehta, Manish; Kavadu, Paresh; Chougule, Sachin

    2004-01-01

    We report a case of Waardenburg syndrome in a female child aged 2yrs. Petrus Johannes Waardenburg(1) , a Dutch Ophthalmologist in 1951 described individuals with retinal pigmentary differences who had varying degrees of hearing loss and dystopia canthorum (i.e., latral displacement of inner canthi of eyes). The disease runs in families with a dominant inheritance pattern with varying degree of clinical presentation. Patient usually present with heterochromic iris, pigmentary abnormalities of ...

  7. Waardenburg syndrome

    OpenAIRE

    Tagra Sunita; Talwar Amrita; Walia Rattan Lal; Sidhu Puneet

    2006-01-01

    Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features ...

  8. HABERLAND SYNDROME

    Directory of Open Access Journals (Sweden)

    Ratnakumari

    2014-08-01

    Full Text Available Encephalo cranio cutaneous lipomatosis (ECCL is a rare neuro-cutaneous syndrome. It is characterized by unilateral lipomas of the cranium, face, and neck, ipsilateral lipodermoids of the eye, ipsilateral brain anomalies. There are 53 cases mentioned so far in the literature. To our knowledge, only 3 cases were reported from India. We report a case of a baby girl who presented in our institution for neuro-radiological evaluation based on which diagnosis of ECCL was made.

  9. Turner Syndrome

    OpenAIRE

    Akcan AB.

    2007-01-01

    Turner syndrome (TS) is a neurogenetic disorder characterized by partial or complete monosomy-X. TS is associated with certain physical and medical features including estrogen deficiency, short stature and increased risk for several diseases with cardiac conditions being among the most serious. Girls with TS are typically treated with growth hormone and estrogen replacement therapies to address short stature and estrogen deficiency. The cognitive-behavioral phenotype associated with TS includ...

  10. Robinow Syndrome

    OpenAIRE

    Gökhan Gökalp; Erdal Eren; Zeynep Yazıcı; Halil Sağlam

    2010-01-01

    Introduction: Robinow syndrome is characterized by dwarfism demonstrating short-limbed extremities, vertebral malsegmentation/malformation (hemivertebra), costal dysplasia, genital hypoplasia, and fetal facial appearance (wide and prominent forehead, hypertelorism, small and wide nose, molar hypoplasia, and retrognathia). It is a rare genetic disease which may present with either mild autosomal dominant form or severe recessive form. Vertebral and costal abnormalities are common diagnostic si...

  11. Marfan syndrome.

    OpenAIRE

    Jain, Eesha; Pandey, Ramesh Kumar

    1997-01-01

    Marfan syndrome is a rare autosomal dominant disorder of the connective tissue, with skeletal, ligamentous, orooculofacial, pulmonary, abdominal, neurological and the most fatal, cardiovascular manifestations. It has no cure but early diagnosis, regular monitoring and preventive lifestyle regimen ensure a good prognosis. However, the diagnosis can be difficult as it is essentially a clinical one, relying on family history, meticulous physical examination and investigation of involved organ sy...

  12. Mermaid syndrome

    OpenAIRE

    Çelik, Yalçın; Turhan, Ali Haydar; Gülaşı, Selvi; Kara, Tuğba; Şenli, Hicran; Atıcı, Aytuğ

    2013-01-01

    Sirenomelia also known as the mermaid syndrome is a very rare congenital anomaly characterized by lower limb fusion and severe urogenital gastrointestinal cardiovasculer central nervous system malformations We report a case of sirenomelia who had a single umblical artery renal agenesis pulmoner hypoplasia esophageal atresia ventricular septal defect anal atresia intestinal atresia and who was lost at fifth hour of life Turk Arch Ped 2013; 48: 65 7

  13. Noonan Syndrome

    OpenAIRE

    Bhambhani, Vikas; Muenke, Maximilian

    2014-01-01

    Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, visio...

  14. Apert's Syndrome

    OpenAIRE

    Kumar, Gudipaneni Ravi; Jyothsna, Mandapati; Ahmed, Syed Basheer; Sree Lakshmi, Ketham Reddy

    2014-01-01

    ABSTRACT Apert's syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, midfacial malforma­tion and symmetrical syndactyly of hands and feet. Craniofacial deformities include cone-shaped calvarium, fat forehead, prop-tosis, hypertelorism and short nose with a bulbous tip. Intraoral findings include high arched palate with pseudocleft, maxillary transverse and sagittal hypoplasia with concomitant dental crowding, skeletal and dental anterior open bite...

  15. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Sharon Turban; Paul J Thuluvath; Mohamed G Atta

    2007-01-01

    Hepatorenal syndrome (HRS) is a "functional" and reversible form of renal failure that occurs in patients with advanced chronic liver disease. The distinctive hallmark feature of HRS is the intense renal vasoconstriction caused by interactions between systemic and portal hemodynamics. This results in activation of vasoconstrictors and suppression of vasodilators in the renal circulation. Epidemiology, pathophysiology, as well as current and emerging therapies of HRS are discussed in this review.

  16. Brachycephalic Syndrome.

    Science.gov (United States)

    Dupré, Gilles; Heidenreich, Dorothee

    2016-07-01

    Animals presenting with brachycephalic syndrome suffer from multilevel obstruction of the airways as well as secondary structural collapse. Stenotic nares, aberrant turbinates, nasopharyngeal collapse, soft palate elongation and hyperplasia, laryngeal collapse, and left bronchus collapse are being described as the most common associated anomalies. Rhinoplasty and palatoplasty as well as newer surgical techniques and postoperative care strategies have resulted in significant improvement of the prognosis even in middle-aged dogs. PMID:27012936

  17. Caroli's syndrome

    International Nuclear Information System (INIS)

    In 1958 Caroli described the syndrome of congenital, either segmental or involving the entire bile duct system, saccular extensions of the intrahepatic bile ducts. He differentiated between two types of this disease pattern. The first form concerns pure cystic dilatations of the intrahepatic bile ducts, whereas the second one is combined with hepatic fibrosis and portal hypertension. Both types are characterised by cystic dilatations in the kidneys and in the extrahepatic bile ducts, pancreas and spleen. (orig.)

  18. Griscelli syndrome

    Directory of Open Access Journals (Sweden)

    Kumar T

    2006-01-01

    Full Text Available Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. It was initially described in 1978. Primary abnormalities included silvery grayish sheen to the hair, large pigment agglomerations in hair shafts and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. We describe a child with Griscelli syndrome who presented with hepatitis, pancytopenia and silvery hair. The diagnosis was confirmed by microscopic skin and hair examination.

  19. Asperger syndrome

    OpenAIRE

    Woodbury-Smith, Marc R.; Volkmar, Fred R.

    2008-01-01

    Abstract Asperger syndrome (AS) is a chronic neurodevelopmental disorder of social interaction, communication, and a restricted range of behaviors or interests. Although not generally associated with intellectual disability, the severe social disability and, in many cases, associated mental health and other medical problems, result in disability throughout life. The diagnosis is often delayed, sometimes into adulthood, which is unfortunate because there are now a range...

  20. Brugada syndrome

    Directory of Open Access Journals (Sweden)

    Rachel Bastiaenen

    2011-12-01

    Full Text Available The Brugada syndrome demonstrates characteristic electrocardiogram features and is a significant cause of sudden death in young adults with overtly normal cardiac structure and function. The genetic basis has not yet been fully elucidated but our understanding of the causative mutations and modifiers of arrhythmic events is advancing rapidly alongside sequencing technologies. We expect that the future will include risk stratification according to genotype and management tailored to the genetic diagnosis.

  1. Burnout syndrome

    Czech Academy of Sciences Publication Activity Database

    Kebza, V.; Šolcová, Iva

    Praha: EFPA/UPA, 2007 - (Polišenská, V.; Šolc, M.; Kotrlová, J.). s. 31 ISBN 978-80-7064-017-3. [European Conress of Psychology /10./. 03.07.2007-06.07.2007, Praha] R&D Projects: GA ČR GA406/06/0747 Institutional research plan: CEZ:AV0Z70250504 Keywords : burnout syndrome * type D personality * physiological indicators Subject RIV: AN - Psychology

  2. Tumor suppressor and hepatocellular carcinoma

    Institute of Scientific and Technical Information of China (English)

    Juliette Martin; Jean-Frangois Dufour

    2008-01-01

    A few signaling pathways are driving the growth of hepatocellular carcinoma. Each of these pathways possesses negative regulators. These enzymes, which normally suppress unchecked cell proliferation, are circumvented in the oncogenic process, either the over-activity of oncogenes is sufficient to annihilate the activity of tumor suppressors or tumor suppressors have been rendered ineffective. The loss of several key tumor suppressors has been described in hepatocellular carcinoma. Here, we systematically review the evidence implicating tumor suppressors in the development of hepatocellular carcinoma.

  3. Acinic cell carcinoma of the parotid in children

    International Nuclear Information System (INIS)

    The imaging findings of two children with acinic cell carcinoma of the parotid gland are presented. Ultrasonic and computed tomography features are emphasized. One of these children, a 6 year old boy, suffers from the oculocerebrorenal syndrome of Lowe, a rare congenital, inherited condition manifested by defects of the nervous system (mental retardation, hypotonia), eyes (cataracts, glaucoma) and kidneys. To date, no known association exists between these two rare entities. The other child, a 10 year old girl, was otherwise well. The ultrasound findings of both cases demonstrate features more classic for a benign intraparotid mass than for a potentially malignant lesion. The possibility of acinic cell carcinoma should be considered if a well-defined, relatively homogeneously hypo-echoic intraparotid mass is encountered in a child, especially if cystic spaces are present. It was estimated that computed tomography findings reflected features already demonstrated by ultrasound and added little to characterization of the primary mass in this case. 12 refs.,5 figs

  4. Papillary renal cell carcinoma

    International Nuclear Information System (INIS)

    Between 1976 and 1987, 395 patients with kidney tumors were studied with radiological techniques and sonography. In 37 cases (9.4%) histopathology diagnosed pure papillary renal cell carcinoma. Analyzing the radiographic patterns of these neoplasms, the authors observed constantly diminished vascularity (100%) frequent calcifications (35.1%) and necrotic areas (51.3%). Such X-ray features are not specific: nevertheless, their coexistence is strongly suggestive of papillary renal cell cancer. No consistent US pattern was found; however, necrotic areas were easily demonstrated in most cases. It must be stressed how patients with papillary carcinoma experienced a longer post-operative survival; it has not yet been established whether such favorable behavior is due to low biological aggressiveness or to earlier diagnosis

  5. Biomarkers for hepatocellular carcinoma.

    Science.gov (United States)

    Behne, Tara; Copur, M Sitki

    2012-01-01

    The hepatocellular carcinoma (HCC) is one of the most common malignant tumors and carries a poor survival rate. The management of patients at risk for developing HCC remains challenging. Increased understanding of cancer biology and technological advances have enabled identification of a multitude of pathological, genetic, and molecular events that drive hepatocarcinogenesis leading to discovery of numerous potential biomarkers in this disease. They are currently being aggressively evaluated to establish their value in early diagnosis, optimization of therapy, reducing the emergence of new tumors, and preventing the recurrence after surgical resection or liver transplantation. These markers not only help in prediction of prognosis or recurrence but may also assist in deciding appropriate modality of therapy and may represent novel potential targets for therapeutic interventions. In this paper, a summary of most relevant available data from published papers reporting various tissue and serum biomarkers involved in hepatocellular carcinoma was presented. PMID:22655201

  6. CREST Syndrome

    Directory of Open Access Journals (Sweden)

    Tuğçe Köksüz

    2014-06-01

    Full Text Available We report a case of CREST syndrome (calsinosis cutis, Raynaud’s phenomenon, oesophageal dysmotility, sclerodactyly and telangiectasia with all of the five major symptoms. A 46-year-old woman was admitted to our clinic with the complaint of erythema, rigidity and pain on the plantar surface of the feet. She had had Raynaud’s phenomenon for 20 years and oesophageal reflux for five years. Her face had become masklike and there was prominent telangiectasies on her face and hands. Sclerosis were confined to the fingers (sclerodactyly. Direct X-ray graphy demonstrated calcinosis cutis on the left hand and suprapatellar region. She was treated with nifedipine 30 mg/day, acetylsalicylic acid 100 mg/day for Raynaud’s phenomenon and famotidine 40 mg/day, metoclopramide HCL 30 mg/day for oesophageal dysmotility. Her complaints were partially relieved after the treatment. This case had all of the five major symptoms of CREST syndrome, and we aimed to emphasize the major symptoms and complications of CREST syndrome. (Turk J Dermatol 2012; 6: 48-50

  7. Noonan syndrome.

    Science.gov (United States)

    Bhambhani, Vikas; Muenke, Maximilian

    2014-01-01

    Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems, hearing loss, and lymphedema. Familial recurrence is consistent with an autosomal dominant mode of inheritance, but most cases are due to de novo mutations. Diagnosis can be made on the basis of clinical features, but may be missed in mildly affected patients. Molecular genetic testing can confirm diagnosis in 70% of cases and has important implications for genetic counseling and management. Most patients with Noonan syndrome are intellectually normal as adults, but some may require multidisciplinary evaluation and regular follow-up care. Age-based Noonan syndrome-specific growth charts and treatment guidelines are available. PMID:24444506

  8. Antiphospholipid syndrome

    Directory of Open Access Journals (Sweden)

    Pavlović Dragan M.

    2010-01-01

    Full Text Available Antiphospholipid syndrome (APS is an autoimmune disease with recurrent thromboses and pregnancy complications (90% are female patients that can be primary and secondary (with concomitant autoimmune disease. Antiphospholipid antibodies are prothrombotic but also act directly with brain tissue. One clinical and one laboratory criterion is necessary for the diagnosis of APS. Positive serological tests have to be confirmed after at least 12 weeks. Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, encephalopathy, seizures, visual disturbances, Sneddon syndrome, dementia, vertigo, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome. About 50% of strokes below 50 years of age are caused by APS. The first line of therapy in stroke is anticoagulation: intravenous heparin or low-weight heparins. In chronic treatment, oral anticoagulation and antiplatelet therapy are used, warfarin and aspirin, mostly for life. In resistant cases, corticosteroids, intravenous immunoglobulins and plasmapheresis are necessary. Prognosis is good in most patients but some are treatment-resistant with recurrent thrombotic events and eventually death.

  9. National Down Syndrome Society

    Science.gov (United States)

    ... with Down Syndrome Since 1979 National Down Syndrome Society 8 E 41st Street, 8th Floor New York ... Program! The mission of the National Down Syndrome Society is to be the national advocate for the ...

  10. Central Pain Syndrome

    Science.gov (United States)

    ... Enhancing Diversity Find People About NINDS NINDS Central Pain Syndrome Information Page Table of Contents (click to ... being done? Clinical Trials Organizations What is Central Pain Syndrome? Central pain syndrome is a neurological condition ...

  11. Fetal Alcohol Syndrome

    Science.gov (United States)

    ... Condiciones Chinese Conditions Fetal Alcohol Syndrome Read in Chinese What is Fetal Alcohol Syndrome (FAS)? Fetal Alcohol Syndrome (FAS) describes changes in a baby born to a mother whose pregnancy was complicated by alcohol consumption. A broader term ...

  12. Tourette Syndrome (For Parents)

    Science.gov (United States)

    ... their child cope with the condition. About Tourette Syndrome Tourette syndrome (TS) is named for French doctor Georges ... people with TS. previous continue Diagnosing and Treating Tourette Syndrome Pediatricians and family doctors may refer a child ...

  13. Barth Syndrome (BTHS)

    Science.gov (United States)

    ... Awards Enhancing Diversity Find People About NINDS NINDS Barth Syndrome Information Page Table of Contents (click to jump ... is being done? Clinical Trials Organizations What is Barth Syndrome? Barth syndrome (BTHS) is a rare, genetic disorder ...

  14. Sexuality and Down Syndrome

    Science.gov (United States)

    ... NDSS Home » Resources » Wellness » Sexuality » Sexuality & Down Syndrome Sexuality & Down Syndrome Human sexuality encompasses an individual's self- ... community standards for adult behavior. How Can Healthy Sexuality be Encouraged for Individuals with Down Syndrome? Creating ...

  15. Narcotic Bowel Syndrome

    Science.gov (United States)

    ... Intolerance Malabsorption Narcotic Bowel Syndrome Radiation Therapy Injury Short Bowel Syndrome Symptoms & Causes Treatments Nutrition and Diet Managing Secondary Effects Medications Surgery Daily Living with SBS Resources SMA Syndrome Volvulus ...

  16. Soft tissue myoepithelial carcinoma

    OpenAIRE

    Stojšić Zorica; Brašanac Dimitrije; Bacetić Dragoljub; Janković Radmila; Drndarević Neda

    2006-01-01

    Background. Myoepitheliomas are tumors composed predominantly or exclusively of myoepithelial cells, usually arising in salivary glands. Cutaneous/soft tissue localization is very rare, especially for the malignant myoepitheliomas. Case report. We presented a case of myoepithelial carcinoma involving subcutaneous adipose tissue of the left forearm in a woman aged 62 years. The tumor was composed of epithelioid and hyaline cell types, arranged in diffuse sheets, nests and loose clusters within...

  17. Immunology of hepatocellular carcinoma

    OpenAIRE

    Sachdeva, Meenakshi; Chawla, Yogesh K.; Arora, Sunil K

    2015-01-01

    Hepatocellular carcinoma (HCC) is primarily a malignancy of the liver, advancing from a damaged, cirrhotic liver to HCC. Globally, HCC is the sixth most prevalent cancer and the third-most prevalent reason for neoplastic disease-related deaths. A diverse array of infiltrating immunocytes regulates the development and progression of HCC, as is the case in many other cancers. An understanding of the various immune components during HCC becomes necessary so that novel therapeutic strategies can ...

  18. Uterine papillary serous carcinoma.

    Science.gov (United States)

    Moore, Kathleen N; Fader, Amanda Nickles

    2011-06-01

    Uterine papillary serous carcinoma (UPSC) is a histologic variant of endometrial cancer that accounts for only 10% of new cases of uterine cancer but is responsible for 40% of deaths from the disease. UPSC is an aggressive tumor with a predilection for early spread beyond the uterus. Treatment for UPSC typically entails surgery and in most women is followed by multimodality adjuvant therapy. In this review, we describe the epidemiology, natural history, treatment, and outcome of UPSC. PMID:21508697

  19. Penis squamous cell carcinoma

    OpenAIRE

    Leonor Hernández Piñero; José Luis Rodríguez López; María de Lourdes Menéndez Villa

    2015-01-01

    Cancer has become a first order health problem worldwide, despite the great diagnostic and therapeutic programs achieved during the last years. This is a clinical case of an 81- year-old patient with personal and social history of promiscuous and unprotected sexual behavior that shows a vegetative lesion in his gland and numerous inguinal adenopathies. Biopsy confirms the diagnosis of squamous cell carcinoma infiltrating the penis, which is a relatively rare pathology which is generally diagn...

  20. Carcinoma-associated antigens

    International Nuclear Information System (INIS)

    This invention relates to novel antigens associated with breast carcinoma, anti-sera specific to said antigens, 125I-labeled forms of said antigens and methods of detecting said antigens in serum or plasma. The invention also relates to a diagnostic kit containing standardised antigens or antisera or marked forms thereof for the detection of said antigens in human blood, serum or plasma. (author)

  1. Primary urethral carcinoma

    International Nuclear Information System (INIS)

    The casuistry of the Urologic Service of A.C. Camargo Hospital - Antonio Prudente Foundation - Sao Paulo (Brazil) is presented. Fourteen patients with primary urethral carcinoma are studied from 1954 to 1980. The treatment used is reported: surgery,radiotherapy and/or chemotherapy. The modalities of radiation therapy included brachitherapy alone and combination with external radiation with total doses of 60 to 80 Gy. (M.A.C)

  2. Thermoradiotherapy for colorectal carcinoma

    International Nuclear Information System (INIS)

    The Japanese Society for Therapeutic Radiology and Oncology conducted a survey of the present state of thermoradiotherapy for colorectal carcinomas in Japan. In this survey, 105 cases at the 9 institutions were registered which had been treated from January 1981 to December 1992. From this data, we analyzed the trend of hyperthermia for the colorectal carcinoma and the treatment parameters which might have an influence on the treatment results. Ninety-four of 105 cases were recurrent or metastatic lesions. Mainly, the RF capacitive heating equipment was applied for the colorectal carcinoma. The number of cases in which hyperthermia were given once or twice a week were almost equal, and there was no significant difference in the treatment response rate. The mean duration of hyperthermia at therapeutic temperature was 42 min. Measurements of temperature in lesions were performed in 86% of sessions, and the mean tumor temperature was 43.1degC. Higher maximum tumor temperature and longer treatment time have brought significantly better response. Responder groups have shown better survival than non-responder groups. Acute reactions associated with hyperthermia were as follows: pain in 35 cases, burn and/or skin erosion in 12 cases, abscess formation in 3 cases and others in 3 cases. Late effects of treatment were ileus in 9 cases, ulcer of intestinal tract in 5 cases, subcutaneous fibrosis in 3 and others in 6. In conclusion, the application of thermoradiotherapy for reflactory colorectal carcinoma may contribute to the improvement of prognosis and quality of life of patients. (author)

  3. Carcinoma in a fibroadenoma.

    Directory of Open Access Journals (Sweden)

    Sarela A

    1995-01-01

    Full Text Available A carcinoma arising within a fibroadenoma is an unusual occurrence, with only a little over 100 reported cases. The purpose of this report is to increase the awareness of this entity and to discourage the practice of rendering a diagnosis on gross examination of the tumor. We are reporting a case with two distinct primary tumors within the same breast, one of which was arising within the fibroadenoma. Only two such cases have been previously reported.

  4. Differentiated nasosinusal epidermoid carcinoma

    International Nuclear Information System (INIS)

    Two case reports of young patients, who were treated in the Otolaryngology Department from 'Dr. Joaquin Castillo Duany' Teaching Clinical Surgical Hospital in Santiago de Cuba are presented. One of the cases presented nasal obstruction, rhinorrhoea and facial pain, for 7 months; the other one presented an increase of volume in the right ocular globe. In both, the results of the biopsy confirmed the diagnosis of differentiated nasosinusal epidermoid carcinoma

  5. Prevention of hepatocellular carcinoma.

    Science.gov (United States)

    Kew, Michael C

    2010-01-01

    Because of its frequency and grave prognosis, preventing hepatocellular carcinoma is an urgent priority. Prevention should be possible because environmental carcinogens-chronic hepatitis B and C virus infections, dietary exposure to aflatoxins, and iron overload-cause the great majority of these tumors. Chronic hepatitis B virus infection accounts for 55% of global hepatocellular carcinomas and 80% of those in the high-incidence Asia Pacific and sub-Saharan African regions. In these regions the infection that becomes chronic is predominantly acquired very early in life. A safe and effective vaccine against this virus is available and its universal inclusion in the immunization of infants has already resulted in a marked reduction of chronic infection and a 70% decrease in the occurrence of hepatocellular carcinoma in those immunized. Chronic hepatitis C virus infection is the major cause of hepatocellular carcinoma in industrialized countries. The infection is mainly acquired in adulthood and, until a vaccine becomes available, prevention will consist mainly of identifying, counselling, and treating chronically infected individuals, preventing spread of the virus by the use of safe injection practices (particularly in intravenous drug abusers), and screening all donated blood for the presence of the virus. 4.5 billion of the world.s population are exposed to dietary aflatoxins. Prevention involves treating susceptible crops to prevent fungal contamination, and handling the foodstuffs in such a way as to prevent contamination during storage. Iron overload in hereditary hemochromatosis can be prevented by repeated venesection and in African dietary iron overload by fermenting the home-brewed beer in iron-free containers. PMID:20526004

  6. Pathobiology of ovarian carcinomas

    OpenAIRE

    Mojgan Devouassoux-Shisheboran; Catherine Genestie

    2015-01-01

    Ovarian tumors comprise a heterogeneous group of lesions, displaying distinct tumor pathology and oncogenic potentiel. These tumors are subdivided into three main categories: epithelial, germ cell, and sex-cord stromal tumors. We report herein the newly described molecular abnormalities in epithelial ovarian cancers (carcinomas). Immunohistochemistry and molecular testing help pathologists to decipher the significant heterogeneity of this disease. Our better understanding of the molecular bas...

  7. Emerging therapies for thyroid carcinoma.

    LENUS (Irish Health Repository)

    Walsh, S

    2012-02-01

    Thyroid carcinoma is the most commonly diagnosed endocrine malignancy. Its incidence is currently rising worldwide. The discovery of genetic mutations associated with the development of thyroid cancer, such as BRAF and RET, has lead to the development of new drugs which target the pathways which they influence. Despite recent advances, the prognosis of anaplastic thyroid carcinoma is still unfavourable. In this review we look at emerging novel therapies for the treatment of well-differentiated and medullary thyroid carcinoma, and advances and future directions in the management of anaplastic thyroid carcinoma.

  8. Mammary carcinoma diagnostics and therapy

    International Nuclear Information System (INIS)

    The book on mammary carcinoma diagnostics and therapy covers the following issues: development, anatomy and physiology of the mammary glands, pathology of benign and malign mammary gland changes, non-imaging diagnostics; mammography; ultrasonic mammography; magnetic resonance tomography of the mammary glands; imaging diagnostics findings; mammary interventions; examination concepts; operative therapy of the mammary carcinoma; chemotherapy of the mammary carcinoma; radio-oncological therapy of the mammary carcinoma; logistics in a medical center for mammary gland diseases; logistics in an interdisciplinary center for mammary diseases; dialogue conduction and psycho-social attendance.

  9. Clinical parotid carcinoma analysis

    International Nuclear Information System (INIS)

    We clinically analyzed 48 consecutive retrospective cases of parotid carcinoma initially treated between 1988 and 2007. Subjects were 30 males and 18 females ranging from 5 to 85 years old (average: 57.9 years). Of the 12 histological types seen, the most common was mucoepidermoid carcinoma, seen in 12 subjects (25.0%). We studied their survival based on 5 potential prognostic factors-stage, T stage, neck metastasis, facial nerve palsy, and malignancy grade-together with features of mortality and recurrence. Overall 5-year disease-specific survival was 71.2% and 10-year survival 54.9%. Survival rates were significantly lower in stage IV and high-grade malignancy groups than in stage I-III and low-grade malignancy groups. T stage, neck metastasis, and facial nerve palsy tended to compromise survival. Recurrence developed in 2 subjects, in whom significant recurrence risk factors were stage III-IV (particularly, stage IV), T3-4, and high-grade malignancy. Of 18 deaths, causes were distant failure in 11 and local failure in 5. None died of nodal failure. Analysis of these prognostic factors is important in selecting appropriate surgery and in determining indications for postoperative radiotherapy and chemotherapy, leading to better treatment outcome in those with parotid carcinoma. (author)

  10. Glottic ansd supraglottic carcinoma

    International Nuclear Information System (INIS)

    From 1971 through 1982, 442 patients with laryngeal carcinoma were seen at the Leiden University Hospital. They were treated either with radiotherapy alone, sandwich therapy (pre- and postoperative radiotherapy) or by surgery followed by postoperative irradiation. Three hundred and sixty-six patients with glottic or supraglottic tumours could be analysed with respect to two different treatments, complications of treatment and some prognostic factors. Two endpoints of analysis were used: disease-free interval and survival to cfancer death. In patients with glottic or supraglottic carcinoma, the survival of patients with advanced disease, treated with radiotherapy only, was worse as compared to the survival of the same category of patients who were treated with sandwich therapy (p<0.005). In small supraglottic tumours, the survival with both therapy policies was equal. There was no influence on prognosis of histological differentiation of the tumour. It appeared that interruption of radiotherapy for more tah two days had an adverse effect on survival in patients with glottic carcinoma (p=0.0001). (author). 16 refs.; 4 figs.;

  11. Numb Chin Syndrome as First Symptom of Diffuse Large B-Cell Lymphoma

    Directory of Open Access Journals (Sweden)

    Mario Carbone

    2014-01-01

    Full Text Available Numb chin syndrome is a rare sensory neuropathy of the mental nerve characterized by numbness, hypoesthesia, paraesthesia, and very rarely pain. Dental causes, especially iatrogenic ones, maxillofacial trauma, or malignant neoplasm are etiologic factors for this rare syndrome. Many malignant and metastatic neoplasms are causing this syndrome, like primary osteosarcoma, squamous cell carcinoma, and mandibular metastasis of primary carcinoma of breast, lung, thyroid, kidney, prostate, and nasopharynx. Haematological malignancies like acute lymphocytic leukaemia, Hodgkin and non-Hodgkin lymphoma, and myeloma can cause this neuropathy. The authors report a case of a 71-year-old woman in which the numb chin syndrome was the first symptom of the diffuse large B-cell lymphoma, which caused infiltration and reabsorption of the alveolar ridge and lower mandibular cortex. A biopsy of the mass was performed on fragments of tissue collected from the mandibular periosteum, medullary and cortical mandibular bone, and inferior alveolar nerve.

  12. Rapid Fatal Outcome from Pulmonary Arteries Compression in Transitional Cell Carcinoma

    Directory of Open Access Journals (Sweden)

    Ioannis A. Voutsadakis

    2009-01-01

    Full Text Available Transitional cell carcinoma of the urinary bladder is a malignancy that metastasizes frequently to lymph nodes including the mediastinal lymph nodes. This occurrence may produce symptoms due to compression of adjacent structures such as the superior vena cava syndrome or dysphagia from esophageal compression. We report the case of a 59-year-old man with metastatic transitional cell carcinoma for whom mediastinal lymphadenopathy led to pulmonary artery compression and a rapidly fatal outcome. This rare occurrence has to be distinguished from pulmonary embolism, a much more frequent event in cancer patients, in order that proper and prompt treatment be initiated.

  13. Birt-Hogg-Dubé syndrome*

    OpenAIRE

    Lencastre, André; Ponte, Pedro; Apetato, Margarida; Nunes, Luis; Lestre, Sara

    2013-01-01

    A 45-year-old woman with a history of renal carcinoma was observed for facial, cervical and truncal flesh-colored papules. Relatives had similar skin findings and a brother had repeated episodes of pneumothorax. The computerized tomography scan revealed multiple cysts on both lungs. A skin biopsy revealed a perifollicular fibroma. The clinical diagnosis of Birt-Hogg-Dubé syndrome (BHDS) was corroborated by identification of a novel frameshift c.573delGAinsT (p.G191fsX31) mutation in heterozyg...

  14. Reversible Posterior Encephalopathy Syndrome Secondary to Sunitinib

    Directory of Open Access Journals (Sweden)

    Ricardo Costa

    2014-01-01

    Full Text Available Reversible posterior leukoencephalopathy syndrome (RPLS is clinical radiologic condition associated with neurological symptoms and cerebral white matter edema. It has been associated with uncontrolled hypertension, eclampsia, immunosuppressants, and more recently the use of antiangiogenic drugs. Sunitinib is an inhibitor of the vascular endothelial growth factor receptor widely used in the treatment of metastatic renal cell carcinoma (RCC. We report a rare case of RPLS occurring on therapy with sunitinib in a patient with RCC. Our aim is to highlight the importance of considering RPLS as a diagnostic possibility and to hold sunitinib for RCC patients presenting with neurologic symptoms.

  15. Isolated skeletal muscle metastatic deposit in a patient with micropapillary carcinoma thyroid identified by 18F FDG PET CT

    International Nuclear Information System (INIS)

    Micropapillary carcinoma of thyroid is said to be low risk differentiated thyroid malignancy with excellent prognosis. We report the identification of an isolated FDG avid muscle deposit in a treated case of micropapillary carcinoma of the right lobe and widely invasive follicular carcinoma of the left lobe thyroid gland. Patient was found to have an elevated thyroglobulin level with negative iodine scan (TENIS syndrome) on follow up at 6 months. An 18F FDG PET CT (18 fluorine- fluorodeoxyglucose positron emission computed tomography) whole body study revealed a solitary FDG avid deltoid muscle deposit which was histopathologically confirmed to be metastatic papillary carcinoma. While follicular carcinoma is known to have distant metastases, this may be the first reported case of solitary skeletal metastases from micropapillary carcinoma of thyroid and probably the second reported skeletal muscle deposit from DTC detected on 18F FDG PET CT done following elevated thyroglobulin level and negative 131 iodine WB scan (TENIS). This case also assumes importance because it demonstrates possibility of metastases even from a micropapillary carcinoma in contrast to American Thyroid Association guidelines (2009) which suggests that micropapillary carcinoma of thyroid does not merit further treatment after a Total Thyroidectomy.

  16. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Jan Lata

    2012-01-01

    Hepatorenal syndrome (HRS) is defined as a functional renal failure in patients with liver disease with portal hypertension and it constitutes the climax of systemic circulatory changes associated with portal hypertension.This term refers to a precisely specified syndrome featuring in particular morphologically intact kidneys,where regulatory mechanisms have minimised glomerular filtration and maximised tubular resorption and urine concentration,which ultimately results in uraemia.The syndrome occurs almost exclusively in patients with ascites.Type 1 HRS develops as a consequence of a severe reduction of effective circulating volume due to both an extreme splanchnic arterial vasodilatation and a reduction of cardiac output.Type 2 HRS is characterised by a stable or slowly progressive renal failure so that its main clinical consequence is not acute renal failure,but refractory ascites,and its impact on prognosis is less negative.Liver transplantation is the most appropriate therapeutic method,nevertheless,only a few patients can receive it.The most suitable "bridge treatments" or treatment for patients ineligible for a liver transplant include terlipressin plus albumin.Terlipressin is at an initial dose of 0.5-1 mg every 4 h by intravenous bolus to 3 mg every 4 h in cases when there is no response.Renal function recovery can be achieved in less than 50% of patients and a considerable decrease in renal function may reoccur even in patients who have been responding to therapy over the short term.Transjugular intrahepatic portosystemic shunt plays only a marginal role in the treatment of HRS.

  17. Morvan Syndrome

    Science.gov (United States)

    Maskery, Mark; Chhetri, Suresh K.; Dayanandan, Rejith; Gall, Claire

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management. PMID:26740856

  18. Bilateral Renal Tumour as Indicator for Birt-Hogg-Dubé Syndrome

    OpenAIRE

    Johannesma, P. C.; van Moorselaar, R J A; Horenblas, S.; L. E. van der Kolk; Thunnissen, E.; Van Waesberghe, J H T M; Menko, F H; Postmus, P E

    2014-01-01

    Birt-Hogg-Dubé (BHD) syndrome is a cancer disorder caused by a pathogenic FLCN mutation characterized by fibrofolliculomas, lung cysts, pneumothorax, benign renal cyst, and renal cell carcinoma (RCC). In this case we describe a patient with bilateral renal tumour and a positive familial history for pneumothorax and renal cancer. Based on this clinical presentation, the patient was suspected for BHD syndrome, which was confirmed after molecular testing. We discuss the importance of recognizing...

  19. Trichorhinophalangeal syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Tuzovic, S.; Fiebach, B.J.O.; Magnus, L.; Sauerbrei, H.U.

    1982-11-01

    This article reports on 14 cases of a trichorhinophalangeal syndrome in five successive generations. Besides the well-known characteristics of the TRPS the following symptoms observed in this family are new: Teething was considerably delayed, intelligence was reduced, and there were skin manifestations resembling eczema. Besides, struma colli and colitis ulcerosa were also observed. Subsequent observations have to clarify whether these symptoms are a facultative part of the TRPS pattern. The constant appearance of carriers of these characteristics during five generation points to dominant heredity.

  20. Olmsted Syndrome

    Directory of Open Access Journals (Sweden)

    Sirka C

    1999-01-01

    Full Text Available A 20-year-old Sikh man had palmoplantar keratoderma, flexion deformity of digits, universal alopecia, keratotic plaques at the angles of mouth, gluteal cleft, knees and dorsal aspects of the metacarpophalangeal joints of the hand; features of Olmsted syndrome. He had normal nails, teeth, oral mucosa and normal joint movements. Treatment with acitretin, 25mg/day for three and a half months, followed by 25mg once daily alternating with 50mg once daily for 3 months resulted in significant improvement.

  1. [Piriformis syndrome].

    Science.gov (United States)

    Erauso, Thomas; Pégorie, Anne; Gaveau, Yves-Marie; Tardy, Dominique

    2010-09-20

    Sciatic pain is often misleading and establishing the link with a local muscular cause can be difficult and lead to errors, especially when faced with a young sportsman, with typical discogenic pain. Simple, specific and reproducible tests enable a better identification and treatment of a muscular cause or canal syndrome. Physiotherapy, or local infiltrations are generally very efficient, and sufficient. Surgery may be considered only in a very limited number of cases, lack of response to the first line treatment and then only if it is the absolute diagnosis, diagnosis which must remain a diagnosis of exception, more so of exclusion. PMID:21033479

  2. CREST Syndrome

    OpenAIRE

    Tuğçe Köksüz; Zeynep Nurhan Saraçoğlu; Ayşe Esra Koku-Aksu; İlham Sabuncu; Cengiz Korkmaz

    2014-01-01

    We report a case of CREST syndrome (calsinosis cutis, Raynaud’s phenomenon, oesophageal dysmotility, sclerodactyly and telangiectasia) with all of the five major symptoms. A 46-year-old woman was admitted to our clinic with the complaint of erythema, rigidity and pain on the plantar surface of the feet. She had had Raynaud’s phenomenon for 20 years and oesophageal reflux for five years. Her face had become masklike and there was prominent telangiectasies on her face and hands. Sclerosis were ...

  3. Rett Syndrome

    OpenAIRE

    Sitholey, Prabhat; Agarwal, Vivek; Srivastava, Rohit

    2012-01-01

    Rett syndrome is one of the most common causes of complex disability in girls. It is characterized by early neurological regression that severely affects motor, cognitive and communication skills, by autonomic dysfunction and often a seizure disorder. It is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG-binding protein MeCP2. There are several mouse models either based on conditional knocking out of the Mecp2 gene or on a t...

  4. [Ascher's syndrome].

    Science.gov (United States)

    Halling, F; Sandrock, D; Merten, H A; Hönig, J F

    1991-01-01

    Ascher's syndrome is composed of the triad blepharochalasis, double lip and goitre. In many of the cases reported in the literature this typical constellation of symptoms is not complete; particularly the struma is not mandatorily involved. A 58-year-old patient with this rare disease who exhibited blepharochalasis and double upper and lower lip is presented. Additionally, subclinical hypothyroidism and alopecia areata totalis were found. In differential diagnosis other causes of double lips or enlargement of the lips must be considered. PMID:1817784

  5. Mazabraud syndrome

    Science.gov (United States)

    John, Anulekha Mary; Behera, Kishore Kumar; Mathai, Thomas; Parmar, Harshad; Paul, Thomas V.

    2013-01-01

    A 25 year old lady presented with pain and swelling of left thigh. On examination she was found to have tenderness of left femur with a separate soft tissue swelling within the thigh muscle. Further evaluation revealed expansile bony lesion on X-ray of left tibia and multiple hot spots on bone scan suggestive of fibrous dysplasia. The soft tissue swelling on excision and histopathological examination was found to be intramuscular myxoma. The combination of the above two, called Mazabraud syndrome is being reported. PMID:23961498

  6. Mazabraud syndrome

    Directory of Open Access Journals (Sweden)

    Anulekha Mary John

    2013-01-01

    Full Text Available A 25 year old lady presented with pain and swelling of left thigh. On examination she was found to have tenderness of left femur with a separate soft tissue swelling within the thigh muscle. Further evaluation revealed expansile bony lesion on X-ray of left tibia and multiple hot spots on bone scan suggestive of fibrous dysplasia. The soft tissue swelling on excision and histopathological examination was found to be intramuscular myxoma. The combination of the above two, called Mazabraud syndrome is being reported.

  7. Griscelli syndrome.

    Science.gov (United States)

    Ariffin, H; Geikowski, A; Chin, T F; Chau, D; Arshad, A; Abu Bakar, K; Krishnan, S

    2014-08-01

    We report a case of Griscelli Syndrome (GS). Our patient initially presented with a diagnosis of haemophagocytic lymphistiocytosis (HLH). Subsequent microscopic analysis of the patient's hair follicle revealed abnormal distribution of melanosomes in the shaft, which is a hallmark for GS. Analysis of RAB27A gene in this patient revealed a homozygous mutation in exon 6, c.550C>T, p.R184X . This nonsense mutation causes premature truncation of the protein resulting in a dysfunctional RAB27A. Recognition of GS allows appropriate institution of therapy namely chemotherapy for HLH and curative haemotopoeitic stem cell transplantation. PMID:25500851

  8. HELLP syndrome

    Directory of Open Access Journals (Sweden)

    Dilek Acar

    2014-08-01

    Suggested treatment modality consists, stabilization of blood pressure and magnesium sulfate infusion. Then evaluation of fetal status and planning delivery method and time if maternal status remains unstable. If prognosis seems favorable without urgent delivery and fetus can benefit from it, a course of betamethasone can be given to fetuses between 24 and 34 weeks of gestational age. The only and definite treatment of HELLP syndrome is delivering the baby. Suggested benefits of steroid therapy and other experimental treatments are still to be proven effective by large randomized controlled trials. [Archives Medical Review Journal 2014; 23(4.000: 735-760

  9. OCULO-CEREBRO-RENAL SYNDROME (LOWE'S SYNDROME)

    Institute of Scientific and Technical Information of China (English)

    1991-01-01

    Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heridity are discussed.

  10. Viral hepatitis and hepatocellular carcinoma

    International Nuclear Information System (INIS)

    Two papers in this volume are in INIS scope, respectively dealing with MRI in the study of viral hepatitis and hepatocellular carcinoma, and The use of 131I-labeled Lipidol in the diagnosis of hepato-cellular carcinoma. (H.W.). refs.; figs.; tabs

  11. Tubulocystic carcinoma of the kidney

    OpenAIRE

    Podduturi, Varsha; Adair, Carol F.; Zhang, Haiying

    2015-01-01

    Tubulocystic carcinoma (TCC) of the kidney is a unique, rare, and recently recognized neoplasm. Although originally considered a low-grade collecting duct carcinoma, TCC is now considered to be a distinct entity. TCC should be considered in the differential diagnosis of cystic renal neoplasms. We report a case of TCC arising in the left kidney.

  12. 131I-19-iodocholesterol adrenal scanning in Cushing's syndrome

    International Nuclear Information System (INIS)

    7 patients were investigated: 2 bilateral hyperplasia due to pituitary ACTH excess showed bilateral adrenal activity. 1 post-surgical remnant with recurrent Cushing's syndrome was detected. 1 adenoma showed unilateral intense activity and absent activity in the controlateral gland, even after ACTH treatment. 2 carcinomas were weakly imaged. In 1 case, hepatic metastasis showed 131I-19-iodocholesterol uptake. Adrenal imaging with 131I-19-iodocholesterol is not a good procedure for assessing hormonal function. It is a valuable and safe tool in the localization and diagnosis of adrenal lesions causing Cushing's syndrome, perhaps better than radiologic procedures. Radiation dosimetry is acceptable

  13. Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1 and a novel mutation in the MEN1 gene

    Directory of Open Access Journals (Sweden)

    Kamakari Smaragda

    2011-01-01

    Full Text Available Abstract The incidence of adrenal involvement in MEN1 syndrome has been reported between 9 and 45%, while the incidence of adrenocortical carcinoma (ACC in MEN1 patients has been reported between 2.6 and 6%. In the literature data only unilateral development of ACCs in MEN1 patients has been reported. We report a 31 years-old female MEN1-patient, in whom hyperplasia of the parathyroid glands, prolactinoma, non functioning pancreatic endocrine carcinoma and functioning bilateral adrenal carcinomas were diagnosed. Interestingly, a not previously described in the literature data, novel germline mutation (p.E45V in exon 2 of MEN1 gene, was detected. The association of exon 2 mutation of the MEN1 gene with bilateral adrenal carcinomas in MEN1 syndrome, should be further investigated.

  14. Stewart-Treves syndrome: a case report.

    Science.gov (United States)

    Benmansour, Anis; Laanaz, Saad; Bougtab, Abdeslam

    2014-01-01

    The Stewart-Treves syndrome was first described in 1948, it's an angiosarcoma developed on a longstanding lymphadenomatous limb, more often after radical mastectomy. Diagnosis is made on skin biopsy and the prognosis is poor when radical surgery can't be performed. We report the case on a Stewart-Treves syndrome in a sixty-six years old woman who underwent radical mastectomy for breast carcinoma ten years earlier. Surgery was not feasible at the time of diagnosis, and we lost touch of the patient even if chemotherapy was decided. Radical surgery is the best treatment to date for this rare disease. Conservative surgery with adjuvant radiotherapy is also possible. Systemic chemotherapy is reserved for locally advanced unresectable and metastatic forms. We advocate long term follow-up for every post mastectomy lymphedema to diagnosis this fatal disease when curable. PMID:25574331

  15. Stewart–Treves syndrome: a case report

    Science.gov (United States)

    Benmansour, Anis; Laanaz, Saad; Bougtab, Abdeslam

    2014-01-01

    The Stewart-Treves syndrome was first described in 1948, it's an angiosarcoma developed on a longstanding lymphadenomatous limb, more often after radical mastectomy. Diagnosis is made on skin biopsy and the prognosis is poor when radical surgery can't be performed. We report the case on a Stewart-Treves syndrome in a sixty-six years old woman who underwent radical mastectomy for breast carcinoma ten years earlier. Surgery was not feasible at the time of diagnosis, and we lost touch of the patient even if chemotherapy was decided. Radical surgery is the best treatment to date for this rare disease. Conservative surgery with adjuvant radiotherapy is also possible. Systemic chemotherapy is reserved for locally advanced unresectable and metastatic forms. We advocate long term follow-up for every post mastectomy lymphedema to diagnosis this fatal disease when curable. PMID:25574331

  16. PROGNOSTIC FACTORS IN CERVICAL CARCINOMA

    Institute of Scientific and Technical Information of China (English)

    路平; 梁秋冬; 魏磊; 郑全庆

    2002-01-01

    Objective: To evaluate factors for prognosis of cervical carcinoma. Methods: Expressions of mn23- HI, erbB3 and erbB4 were examined by immunohistochemical staining. The apoptosis was detected in situ by the TdT mediated duip-biotin nick end-labeling (TUNEL) technique. Mitotic cell were counted by HE dyeing. Results: FIGO stage and lymph node metastasis were the most important factors for evaluating prognosis in adenocarcinoma or squamous cell carcinoma. AI/MI was positively correlated with 5-year survival of cervical carcinoma. Positive expression of nm23-H1 combed with negative expression of erbB4 [nm23-H1(+)/erbB4(-)] predicted good prognosis for adeno-carcinoma. In multivariable Cox regression analysis, only FIGO stage and AI/MI were into equation. Conclusion: FIGO stage and AI/MI were independent evaluating parameter for adenocarcinoma or squamous cell carcinoma.

  17. Vitronectin in human breast carcinomas

    DEFF Research Database (Denmark)

    Aaboe, Mads; Offersen, Birgitte Vrou; Christensen, Anni;

    2003-01-01

    We have analysed the occurrence of the extracellular glycoprotein vitronectin in carcinomas and normal tissue of human breast. Immunohistochemical analysis of carcinomas revealed a strong vitronectin accumulation in extracellular matrix (ECM) around some cancer cell clusters and in the...... subendothelial area of some blood vessels. In normal tissue, vitronectin had a homogeneous periductal occurrence, with local accumulation much lower than that in the carcinomas. Using a new solid phase radioligand assay, the vitronectin concentrations of extracts of carcinomas and normal breast tissue were...... determined and found to be indistinguishable. Comparison of the vitronectin and the hemoglobin concentrations of the extracts showed that their vitronectin content was not derived from blood contamination. Vitronectin mRNA was undetectable in both carcinomas and normal tissue. We conclude that vitronectin is...

  18. KBG syndrome

    Directory of Open Access Journals (Sweden)

    Brancati Francesco

    2006-12-01

    Full Text Available Abstract KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG anomalies (with or without seizures and abnormal hair implantation. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Autosomal dominant transmission has been observed in some families, and it is predominantly the mother, often showing a milder clinical picture, that transmits the disease. The diagnosis is currently based solely on clinical findings as the aetiology is unknown. The final diagnosis is generally achieved after the eruption of upper permanent central incisors at 7–8 years of age when the management of possible congenital anomalies should have been already planned. A full developmental assessment should be done at diagnosis and, if delays are noted, an infant stimulation program should be initiated. Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment.

  19. Metastatic paediatric colorectal carcinoma.

    LENUS (Irish Health Repository)

    Woods, R

    2012-03-01

    A 16-year-old girl presented to our unit with crampy abdominal pain, change in bowel habit, a subjective impression of weight loss and a single episode of haematochezia. She was found to have a rectosigmoid adenocarcinoma and proceeded to laparoscopic anterior resection, whereupon peritoneal metastases were discovered. She received chemotherapy and is alive and well ten month later with no radiological evidence of disease. Colorectal carcinoma is rare in the paediatric population but is increasing in incidence. Early diagnosis is critical to enable optimal outcomes.

  20. Carcinoma of the thyroid

    International Nuclear Information System (INIS)

    Reference is made to the diagnostic evaluation of thyroid nodule, reaffirming the concepts of algorithm study, sensitivity and specificity of diagnostic procedures and cost-effectiveness. Stressing once again the place of cytology and the concept of selecting patients for surgery, surgical tactics in front of the thyroid nodule and the need for probate multidisciplinary study and treatment of this pathology. Briefly discusses the most controversial treatment of differentiated thyroid carcinomas, the sine qua non of the pathologist in the operating room in thyroid surgery and the value of the quantification of nuclear DNA in the diagnosis and prognosis of these tumors (Author)

  1. Penis squamous cell carcinoma

    Directory of Open Access Journals (Sweden)

    Leonor Hernández Piñero

    2015-09-01

    Full Text Available Cancer has become a first order health problem worldwide, despite the great diagnostic and therapeutic programs achieved during the last years. This is a clinical case of an 81- year-old patient with personal and social history of promiscuous and unprotected sexual behavior that shows a vegetative lesion in his gland and numerous inguinal adenopathies. Biopsy confirms the diagnosis of squamous cell carcinoma infiltrating the penis, which is a relatively rare pathology which is generally diagnosed belatedly. Partial amputation of the penis was considered to be performed, but there was no consent on behalf of his family. The patient’s general condition was getting worse until he died.

  2. Radiotherapy of corpus carcinoma

    International Nuclear Information System (INIS)

    96 women with primary carcinoma corporis uteri and 79 women after surgery were treated between 1965 - 1970 with different radiotherapeutic methods, in some cases in combination with cytostatics and gestagens. In the group of primary radiation best results were obtained with combination of intracavitary brachytherapy and external radiation (55% 5-years-survival), and in the postoperative group with external radiation alone (67% 5-years-survival). Late complications with 17% fibrosis in the parametrial tissue and 12% persistant diarrhea in the postoperative group needs strict individualization in therapy and requires exact knowledge on extention and biological behavior of the tumor. (author)

  3. Carcinoma of the penis

    International Nuclear Information System (INIS)

    Forty-four patients with squamous cell carcinoma of the penis stage T1-T2, N0 were either treated surgically (n=19) or with a combination of irradiation and bleomycin (n=25). The overall actuarial survival rate was 80% at 3 years, 77% at 5 years and 60% at 10 years. The result of irradiation treatment combined with bleomycin was in stage N0 equivalent to that of surgical therapy. The non-surgical treatment had the advantage of preserved sexual ability. (orig.)

  4. Laryngeal carcinoma. I

    International Nuclear Information System (INIS)

    A series of 359 patients with carcinoma of the larynx was found to be very close to being representative of the northern part of Jutland, Denmark (north of Kongeaen). No unequivocal change in the disease as regards sex, age, histology, symptoms and signs, and stage of disease could be observed during the period 1963 to 1972. A not statistically significant improvement in the corrected mortality appeared. The level of complications after irradiation and secondary surgery was found to be low. A statistically significant, better prognosis was found for females than for males in the glottic group. (Auth.)

  5. Chemoradiotherapy in pancreatic carcinoma

    Directory of Open Access Journals (Sweden)

    Pathy Sushmita

    2009-01-01

    Full Text Available Pancreatic cancer patients present late in their course and surgical resection as a modality of treatment is of limited value. Majority develop loco-regional failure and distant metastasis, therefore, adjuvant therapy comprising of radiotherapy and chemotherapy are useful treatment options to achieve higher loco-regional control. Specialized irradiation techniques like intra-operative radiotherapy that help to increase the total tumor dose have been used, however, controvertible survival benefit was observed. Various studies have shown improved median and overall survival with chemoradiotherapy for advanced unresectable pancreatic carcinoma. The role of new agents such as topoisomerase I inhibitors also needs further clinical investigations.

  6. Surveillance for Hepatocellular Carcinoma

    OpenAIRE

    Ramachandran, Jeyamani

    2014-01-01

    Hepatocellular carcinoma (HCC) is a dreaded complication of cirrhosis as it is the commonest cause of mortality in these patients. The last few years have seen a dramatic improvement in the management of this tumor as nearly 50–70% of selected patients with early HCC survive for a median period of up to 5 years after liver transplantation, resection or local ablation. Surveillance has been found to be an effective tool to detect early tumors and expand the applicability of these curative trea...

  7. Marfan Syndrome (For Parents)

    Science.gov (United States)

    ... Tropical Delight: Melon Smoothie Pregnant? Your Baby's Growth Marfan Syndrome KidsHealth > For Parents > Marfan Syndrome Print A ... the Doctor en español Síndrome de Marfan About Marfan Syndrome Marfan syndrome is a progressive genetic disorder ...

  8. Facts about Down Syndrome

    Science.gov (United States)

    ... Us Information For... Media Policy Makers Facts about Down Syndrome Language: English Español (Spanish) Recommend on Facebook Tweet ... with Down syndrome. View charts » What is Down Syndrome? Down syndrome is a condition in which a ...

  9. Verrucous carcinoma of the maxillary antrum

    OpenAIRE

    Vaid, Neelam; Nagare, Sachin

    2003-01-01

    Verrucous carcinoma is a well-differentiated variant of squumous cell carcinoma. In this article, we present a patient of verrucous carcinoma of the maxillary annum. There are only 6 reported cases of verrucous carcinoma of the maxillary antrum. Ours is the 7th case. We, here, would like to highlight that our case had a different clinical presentation from the previously reported cases.

  10. Composite encapsulated papillary carcinoma and solid papillary carcinoma.

    Science.gov (United States)

    Cui, Xiaoyan; Wei, Shi

    2015-03-01

    Encapsulated papillary carcinoma (EPC) and solid papillary carcinoma (SPC) are distinctive variants of intraductal papillary carcinomas, each accounting for breast carcinomas. Here we report a composite carcinoma consisting of EPC and SPC. A 73-year-old woman was found to have a high density mass in the left breast on mammogram. A biopsy showed intermediate to high grade ductal carcinoma in situ (DCIS). Gross examination of the lumpectomy specimen revealed a solid, multinodular mass. Microscopic examination demonstrated two morphologically distinct intraductal carcinomas intermingled with each other. One had delicate papillae in multi-cystic spaces surrounded by thick fibrous capsule, consistent with EPC. The other had solid tumor nests with delicate fibrovascular cores. The cells were monotonous with round nuclei and salt and pepper-like chromatin, characteristic of SPC. The lack of myoepithelial cells within the papillae and at the periphery of the lesion was confirmed by immunostaining for p63 and CK5/6. Neuroendocrine differentiation of SPC was demonstrated by neuron specific enolase staining. To our knowledge, this is the first reported case of composite EPC and SPC. It raises an interesting question as to a possible common pathway of carcinogenesis of these two rare variants. PMID:25545718

  11. Pancreatic metastasis of Merkel cell carcinoma and concomitant insulinoma: Case report and literature review

    Directory of Open Access Journals (Sweden)

    Hartschuh Wolfgang

    2005-09-01

    Full Text Available Abstract Background Merkel cell carcinomas are rare neoplasm of neuroendocrine origin, usually observed in elderly people in areas with abundant sunlight, and predominantly located on the head and neck, extremities, and trunk. In many patients, a local recurrence after resection of the primary tumour and even distant metastases can be found. Case presentation We report an unusual occurrence of pancreatic metastases from a previously diagnosed Merkel cell carcinoma with the discovery of a concomitant insulinoma. An 82-year old lady suffered from recurrent attacks of hypoglycemia and presented with an abdominal mass, 2 years prior she had an excision done on her eyebrow that was reported as Merkel cell carcinoma. An extended distal pancreatectomy and splenectomy along with resection of the left flexure of the colon for her abdominal mass was carried out. Final histopathology of the mass was a poorly differentiated endocrine carcinoma in the pancreatic tail, in the peripancreatic tissue and in the surrounding soft tissue consistent with metastatic Merkel cell carcinoma in addition to an insulinoma of the pancreatic body. Conclusion This is the first documented case of a metastatic Merkel cell carcinoma and a concomitant insulinoma, suggesting either a mere coincidence or an unknown neuroendocrine tumor syndrome.

  12. Rhabdomyolysis in hyponatremia and paraneoplastic syndrome of inappropriate antidiuresis

    OpenAIRE

    D'Adda, Elisabetta; Paletta, Rosina; Brusaferri, Fabio; Cagnana, Antonio; Teresa Ferrò, Maria; Gennuso, Michele; Ghione, Isabella; Saponara, Riccardo; Prelle, Alessandro

    2015-01-01

    We report a 26-year-old woman admitted to our hospital for generalized tonic seizure. Laboratory investigations revealed severe hyponatremia possibly triggered by vomiting and diarrhea. 24 hours after correction of hyponatremia she developed diffuse myalgias and marked hyperCKemia. Syndrome of inappropriate antidiuresis (SIAD) was suspected as cause of hyponatremia. Abnormal vaginal bleeding prompts gynecological evaluation and a small-cell carcinoma of uterine cervix was detected.

  13. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus;

    2014-01-01

    -intestinal symptoms and types of cancers differs.Clinical awareness and early diagnosis of HPS is important, as affected patients and at-risk family members should be offered genetic counselling and surveillance. Surveillance in children with HPS might prevent or detect intestinal or extra-intestinal complications......Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as......-intestinal cancer. The syndromes are rare and inherited in an autosomal dominant manner.The diagnosis of HPS has traditionally been based on clinical criteria, but can sometimes be difficult as the severity of symptoms range considerably from only a few symptoms to very severe cases - even within the same family...

  14. Superior Mesenteric Artery Syndrome or Wilkie Syndrome

    International Nuclear Information System (INIS)

    We described three cases of superior mesenteric artery (SMA) syndrome, also known as Wilkie's syndrome, chronic duodenal ileus, or cast syndrome. This syndrome occurs when the third portion of the duodenum is compressed between the SMA and the aorta. The major risk factors for development of SMA syndrome are rapid weight loss and surgical correction of spinal deformities. The clinical presentation of SMA syndrome is variable and nonspecific, including nausea, vomiting, abdominal pain, and weight loss. The diagnosis is based on endoscopic, radiographic and tomographic findings of duodenal compression by the SMA. The treatment of SMA syndrome is aimed at the precipitating factor, which usually is related to weight loss. Therefore, conservative therapy with nutritional supplementation is the initial approach, and surgery is reserved for those who do not respond to nutritional therapy.

  15. Leopard syndrome

    Directory of Open Access Journals (Sweden)

    Dallapiccola Bruno

    2008-05-01

    Full Text Available Abstract LEOPARD syndrome (LS, OMIM 151100 is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness. About 200 patients have been reported worldwide but the real incidence of LS has not been assessed. Facial dysmorphism includes ocular hypertelorism, palpebral ptosis and low-set ears. Stature is usually below the 25th centile. Cardiac defects, in particular hypertrophic cardiomyopathy mostly involving the left ventricle, and ECG anomalies are common. The lentigines may be congenital, although more frequently manifest by the age of 4–5 years and increase throughout puberty. Additional common features are café-au-lait spots (CLS, chest anomalies, cryptorchidism, delayed puberty, hypotonia, mild developmental delay, sensorineural deafness and learning difficulties. In about 85% of the cases, a heterozygous missense mutation is detected in exons 7, 12 or 13 of the PTPN11 gene. Recently, missense mutations in the RAF1 gene have been found in two out of six PTPN11-negative LS patients. Mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. LS is largely overlapping Noonan syndrome and, during childhood, Neurofibromatosis type 1-Noonan syndrome. Diagnostic clues of LS are multiple lentigines and CLS, hypertrophic cardiomyopathy and deafness. Mutation-based differential diagnosis in patients with borderline clinical manifestations is warranted. LS is an autosomal dominant condition, with full penetrance and variable expressivity. If one parent is affected, a 50% recurrence risk is appropriate. LS should be suspected in foetuses with severe cardiac hypertrophy and prenatal DNA test may be performed. Clinical management should

  16. Carcinoma of the cervix

    International Nuclear Information System (INIS)

    Purpose: To discuss a variety of technical and clinical issues concerning the management of carcinoma of the uterine cervix. Radiation therapy plays a central role in the management of patients with invasive carcinoma of the uterine cervix. Although survival rates are high for patients with small volume disease, clinicians continue to search for approaches that might improve treatment results for patients who have bulky central disease, evidence of regional dissemination or other factors associated with a high rate of disease recurrence. New technical approaches have contributed to controversy about the best means of optimizing therapeutic ratio. This course will review current approaches to the management of cervical cancer. Technical aspects of intracavitary and external beam treatment will be emphasized. Problems with brachytherapy dose specification will be discussed as will technical factors that may influence the incidence of treatment-related complications. Current understanding of the natural history of disease and of clinical factors that influence the rate of disease recurrence will be reviewed, including the importance of tumor volume, lymph node involvement, and histologic type on natural history and prognosis. The possible role of controversial methods of clinical evaluation such as lymphangiography and surgical staging will be discussed. Some of the more controversial aspects of treatment including the indications of radiation therapy vs. surgical therapy for stage IB disease, the role of extended field therapy, postoperative therapy, adjuvant hysterectomy, and neoadjuvant or concurrent chemotherapy will be discussed. Conclusions from the recent NCI consensus conference on cervical cancer will be reviewed

  17. Carcinoma of the cervix

    International Nuclear Information System (INIS)

    Purpose: To discuss a variety of technical and clinical issues concerning the management of carcinoma of the uterine cervix. Radiation therapy plays a central role in the management of patients with invasive carcinoma of the uterine cervix. Although survival rates are high for patients with small volume disease, clinicians continue to search for approaches that might improve treatment results for patients who have bulky central disease, evidence of regional dissemination or other factors associated with a high rate of disease recurrence. New technical approaches have contributed to controversy about the best means of optimizing therapeutic ratio. This course will review current approaches to the management of cervical cancer. Technical aspects of intracavitary and external beam treatment will be emphasized. Problems with brachytherapy dose specification will be discussed as will technical factors that may influence the incidence of treatment-related complications. Current understanding of the natural history of disease and of clinical factors that influence the rate of disease recurrence will be reviewed, including the importance of tumor volume, lymph node involvement, and histologic type on natural history and prognosis. The possible role of controversial methods of clinical evaluation such as lymphangiography and surgical staging will be discussed. Some of the more controversial aspects of treatment such as the indications for radiation therapy vs. surgical therapy for stage IB disease, the role of extended field therapy, postoperative therapy, adjuvant hysterectomy and neoadjuvant or concurrent chemotherapy will be reviewed

  18. Metabolic Syndrome: Polycystic Ovary Syndrome.

    Science.gov (United States)

    Mortada, Rami; Williams, Tracy

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy. PMID:26280343

  19. Pulmonary Metastasis of Basal Cell Carcinoma

    OpenAIRE

    Seo, Sang-Hee; Shim, Woo-Haing; SHIN, DONG-HOON; Kim, Yun-Seong; Sung, Hyun-Woo

    2011-01-01

    Although basal cell carcinoma is the most common skin cancer, it rarely metastasizes. Metastatic basal cell carcinoma may, therefore, initially elude diagnosis and management. We describe the case of a patient with a metastatic basal cell carcinoma present in the lungs. The differential diagnosis of suspected metastatic lesions should include metastases from a cutaneous basal cell carcinoma, in addition to those from more commonly metastasizing carcinomas, especially in patients with a histor...

  20. Imaging of cholangio-carcinoma

    International Nuclear Information System (INIS)

    Cholangio-carcinoma is an uncommon biliary duct tumor. Two types of cholangio-carcinomas exist: peripheral intrahepatic cholangio-carcinoma (IHC) or cholangio-cellular carcinoma, which originates from small biliary ducts and extrahepatic cholangio-carcinoma (EHC) which originates from a main hepatic duct, from the bifurcation of the common hepatic duct or from the main bile duct. Clinically and radiologically, these two types of cholangio-carcinomas differ. IHC is an intrahepatic focal mass. Features suggestive of the diagnosis can be shown by sonography, CT and MR imaging but only the biopsy affirms the kind of the tumor. Cholangiography and arteriography have also a role in the preoperative staging. The EHC, more common, often appears as a dilatation of intrahepatic bile ducts without any mass. Features suggestive of the diagnosis can be shown by sonography, Ct and MR imaging but only the biopsy affirms the kind of the tumor. Cholangiography and arteriography have also a role in the preoperative staging. The EHC, more common, often appears as a dilatation of intrahepatic bile ducts without any mass. If sonography, CT, MR imaging, Cholangio MR imaging and/or direct cholangiography suggest the diagnosis, the major issue of imaging is to determine whether the tumor is resectable. Hilar cholangio-carcinoma rapidly involves local vessels. Venous or arterial involvement must be depicted by arteriography before surgery. (authors)