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https://www.readbyqxmd.com/read/27017329/-craniofacial-fibrous-dysplasia
#1
A Couturier, O Aumaître, T Mom, L Gilain, M André
Fibrous dysplasia of bone is a benign, uncommon, sporadic, congenital skeletal disorder resulting in deformity. This disease arises from activating somatic mutation in GNAS which encodes the α subunit of the G stimulatory protein associated with proliferation of undifferentiated osteogenic cells resulting in marrow fibrosis, abnormal matrix production, and stimulation of osteoclastic resorption upon overproduction of IL-6 observed in dysplastic cells. Fibrous dysplasia may be monostotic or polyostotic. This mutation affecting many tissues, café au lait skin macules and endocrinopathies (precocious puberty, hyperthyroidism, growth hormone excess, Cushing syndrome) may be associated in McCune-Albright syndrome, but also myxoma in Mazabraud syndrome or phosphate diabetes...
March 23, 2016: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/25130110/a-rare-presentation-of-subclinical-cushing-s-syndrome-as-a-pubic-fracture
#2
Ayse Arduc, Bercem Aycicek Dogan, Gulhan Akbaba, Iffet Dagdelen, Kerim Kucukler, Serhat Isik, Ufuk Ozuguz, Dilek Berker, Serdar Guler
Osteoporosis and bone fractures are commonly seen in patients with Cushing's syndrome (CS). Fractures usually occur in the vertebrae and ribs whereas pubic fractures are less common. Similar to obvious hypercortisolemia, subclinical hypercortisolemia can increase the risk of fractures. However, in subclinical cases, bone fractures are very rarely seen as the presenting symptom. We herein report the case of a 62-year-old postmenopausal woman who was presented with a pubic fracture. During the evaluation of the fracture, thoracoabdominal magnetic resonance imaging of the patient demonstrated an adrenal mass...
2014: Internal Medicine
https://www.readbyqxmd.com/read/22744494/severe-spinal-deformity-and-multiple-vertebral-collapses-in-juvenile-cushing-syndrome-a-case-report
#3
Enrico Pola, Barbara Rossi, Marilda Mormando, Luigi Aurelio Nasto, Debora Colangelo, Silvia Della Casa, Laura De Marinis, Lorenzo Aulisa
Cushing's Syndrome (CS) is rare in adolescence but the pathological effects of excessive circulating glucocorticoids concentration on bone during the developmental age still represent a challenge for orthopedists. Only few reports describe the gravity of early developed damages of spine in young affected by CS. A 18-years-old woman suffering from Cushing's Disease presented after many years treatment of the primary disease referring severe back pain and worsening back deformity. Radiological investigations showed vertebral collapses a devastating thoraco-lumbar scoliosis of 80° Cobb...
2012: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/21351669/-schnitzler-syndrome-case-report-the-experience-with-glucocorticoid-and-anakinra-kineret-therapies-and-monitoring-of-systemic-cytokine-response
#4
P Szturz, Z Adam, M Klabusay, Z Fojtík, Z Kadanka, O Stehlíková, J Chovancová, L Kalvodová, D Corbová, K Starý, J Neubauer, J Prásek, R Koukalová, Z Rehák, R Hájek, J Mayer
Schnitzler syndrome is a rare idiopathic disease characterized by chronic urtica, presence of monoclonal IgM immunoglobuline and further, less common symptoms. This case report describes another case of this disease affecting a male adult born in 1963. The first symptoms, eruptions of non-pruritic urticarial rash, appeared in this patient at the age of 43. In addition, bone pains (mainly tibias) and joint pains (mainly knees) were present. Later on however, severe attacks of fever, chills and shaking together with bone and joint pains were added to during which new urticarial eruptions appeared...
January 2011: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/21340156/application-of-genetic-testing-to-define-the-surgical-approach-in-a-sporadic-case-of-multiple-endocrine-neoplasia-type-1
#5
Cesar Luiz Boguszewski, Leila Caroline Bianchet, Salmo Raskin, Luiz M Nomura, Luis Alencar Borba, Teresa Cristina Santos Cavalcanti
We report the use of a genetic test for therapeutic decision making in a case of primary hyperparathyroidism associated with Cushing's disease (CD). A 20-year-old woman was evaluated for gradual weight gain, asthenia, muscle pain, and hypertension. Biochemical and radiologic tests confirmed CD and she underwent transsphenoidal surgery. Immunohistochemistry of the microadenoma was positive for adrenocorticotropic hormone (ACTH). On follow-up, hypercalcemia with high parathyroid hormone (PTH) levels was detected, associated with nephrolithiasis and low bone mineral density in the spine and hip...
November 2010: Arquivos Brasileiros de Endocrinologia e Metabologia
https://www.readbyqxmd.com/read/18489744/mccune-albright-syndrome
#6
Claudia E Dumitrescu, Michael T Collins
McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP). It is a rare disease with estimated prevalence between 1/100,000 and 1/1,000,000. FD can involve a single or multiple skeletal sites and presents with a limp and/or pain, and, occasionally, a pathologic fracture. Scoliosis is common and may be progressive. In addition to PP (vaginal bleeding or spotting and development of breast tissue in girls, testicular and penile enlargement and precocious sexual behavior in boys), other hyperfunctioning endocrinopathies may be involved including hyperthyroidism, growth hormone excess, Cushing syndrome, and renal phosphate wasting...
May 19, 2008: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/18070581/adrenocortical-carcinoma-with-endocrine-syndromes
#7
Aatif Hassan Shaikh, Salman El Khalid, Noor Nabi Junejo
Adrenocortical carcinoma is a rare disease. A 32 years old lady presented with complaints of hypertension, abdominal swelling, weight gain, hirsutism and bone pains. She was found to have a large adrenocortical carcinoma with associated Cushing's and virilization syndromes. Radical adrenalectomy was done with subsequent plan for Mitotane and radio frequency ablation for hepatic metastasis. However, she succumbed to respiratory failure due to ARDS, a month after operation.
November 2007: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/17649795/cortisol-as-a-possible-marker-of-metastatic-adrenocortical-carcinoma-a-case-report-with-3-year-follow-up
#8
Sebastian Schwarte, Ernst G Brabant, Leonard Bastian, Frank Bruns
BACKGROUND: Adrenocortical carcinoma (ACC) is a rare tumour, sometimes causing glucocorticoid hypersecretion. Treatment guidelines have not been established, but are currently under investigation. CASE REPORT: A 55-year-old Caucasian woman presented with adrenal Cushing's disease. Histological examination after a left adrenalectomy revealed a benign tumour. Postoperatively, elevated serum cortisol levels normalized. Hypercortisolism occurred again two years later...
July 2007: Anticancer Research
https://www.readbyqxmd.com/read/17270667/small-cell-carcinoma-of-the-female-genital-tract
#9
REVIEW
Sara Crowder, Erin Tuller
Small cell carcinoma (SCC) of the female genital tract is rare, constituting less than 2% of all gynecologic malignancies. It occurs most frequently in the cervix but can also occur in the endometrium, ovary, fallopian tube, vagina, and vulva. SCC of the genital tract is microscopically indistinguishable from that of the lung. Neuroendocrine differentiation is often manifested by a histologic growth pattern, argyrophilia, ultrastructural demonstration of secretory granules, and expression of neuroendocrine markers...
February 2007: Seminars in Oncology
https://www.readbyqxmd.com/read/16932253/difficulty-in-the-diagnosis-of-cushing-disease
#10
Lynnette K Nieman
BACKGROUND: A 48-year-old woman presented to our clinic 1 year after hypertension was discovered on a routine screening visit. During the previous year, she had noticed weight gain in the face and abdomen, easy bruising, oligomenorrhea and facial and periareolar hair growth. On presentation, she reported no weakness, fracture, back pain, depression, irritability, problem with cognition or memory, increased appetite, hot flashes or altered sleep. Previous medication history included 2...
January 2006: Nature Clinical Practice. Endocrinology & Metabolism
https://www.readbyqxmd.com/read/16610696/cytopathologic-features-of-pituitary-carcinoma-with-cervical-vertebral-bone-metastasis-a-case-report
#11
Koray Ceyhan, Banu Yagmurlu, Basak Erguvan Dogan, Nural Erdogan, Safak Bulut, Selim Erekul
BACKGROUND: Pituitary carcinomas are extremely rare tumors of the adenohypophysis. The presence of craniospinal and/or systemic extracranial metastases is the only reliable criterion for the diagnosis of pituitary carcinoma. To date, only 2 cases have been reported correctly by fine needle aspiration biopsy (FNAB). We present an additional case of pituitary carcinoma with FNAB features. CASE: A 60-year-old woman presented with clinical features of Cushing's disease and a pituitary tumor...
March 2006: Acta Cytologica
https://www.readbyqxmd.com/read/12593622/endonasal-transsphenoidal-approach-for-pituitary-adenomas-and-other-sellar-lesions-an-assessment-of-efficacy-safety-and-patient-impressions
#12
COMPARATIVE STUDY
Gabriel Zada, Daniel F Kelly, Pejman Cohan, Christina Wang, Ronald Swerdloff
OBJECT: The direct endonasal approach performed with the aid of an operating microscope for removal of pituitary tumors has the potential advantage over the traditional sublabial route of minimizing postoperative rhinological complications, yet maintaining a high degree of efficacy and safety. To assess the effectiveness of this procedure, tumor remission rates and surgical complications were documented, and patients' postoperative complaints were recorded using a questionnaire. METHODS: One hundred consecutive patients underwent 109 endonasal operations for tumor removal...
February 2003: Journal of Neurosurgery
https://www.readbyqxmd.com/read/12199348/mccune-albright-syndrome-the-german-experience
#13
N Albers, S Jörgens, D Deiss, B P Hauffa
The classical McCune-Albright syndrome (MAS) consists of peripheral precocious puberty (PPP), fibrous bone dysplasia and café-au-lait spots. We conducted a survey among pediatric endocrinologists in Germany, Austria and Switzerland, most of them participating in the German Working Group for Pediatric Endocrinology (APE). Thirty-three physicians reported 58 patients. A detailed questionnaire yielded extensive data from 41 patients. Patients (36 females, 5 males) were diagnosed between the 4th week of life and 8 years...
2002: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/12181667/case-report-of-a-cushing-s-syndrome-patient-with-multiple-pathologic-fractures-during-pregnancy
#14
Tsuyoshi Tajika, Tetsuya Shinozaki, Hideomi Watanabe, Takashi Yangawa, Kenji Takagishi
We describe a case of multiple pathologic fractures in a woman with Cushing's syndrome during pregnancy. Pathologic fractures were seen in the pubic and ischial bones and in T12 and L1 of the vertebral body. These findings, accompanied by easy fatigue, amenorrhea without nursing, psychological disorder, and premature birth, were retrospectively compatible with those of Cushing's syndrome, not pregnancy-associated osteoporosis. After adrenalectomy, the pain in her groin and back ceased. Plain radiographs showed healing of the fractures and increased mineralization...
2002: Journal of Orthopaedic Science: Official Journal of the Japanese Orthopaedic Association
https://www.readbyqxmd.com/read/12138992/uncommon-clinical-course-of-multiple-osteochondromatosis-in-a-patient-with-a-long-term-history-of-cushing-s-disease
#15
A Faggiano, R Pivonello, C Ruosi, E Somma, M Imbimbo, M Filippella, G Lombardi, A Colao
Cushing's disease (CD), the chronic endogenous hypercortisolism derived from an ACTH-secreting pituitary adenoma, and multiple osteochondromatosis (MO), a congenital mesoderm dyschondroplasia, represent two distinct rare neoplastic diseases. Clinical appearance of MO usually occurs during the first-second decade of life. In fact, the growth of osteochondromas parallels the patient's growth, then becoming quiescent after the closure of the epiphyses and the achievement of final stature. Here we describe an uncommon case of a patient with a long-term history of childhood-onset CD, who surprisingly developed MO during the third decade of life, after the remission of CD...
August 2001: Pituitary
https://www.readbyqxmd.com/read/12079144/bilateral-giant-adrenal-myelolipomas-a-case-report
#16
William R Wrightson, Thomas X Hahm, Julie R Hutchinson, William Cheadle
Myelolipoma is a relatively rare benign tumor composed of fatty tissue and bone marrow elements. It is frequently associated with the adrenal glands but may exist as a solitary mass elsewhere. Adrenal myelolipomas are typically nonfunctioning and asymptomatic. They may be associated with an endocrine disorder such as Cushing's disease, Addison's disease, or hyperaldosteronism; however they are most often discovered incidentally. Their size is usually less than 5 cm and they are managed nonoperatively. We report a case of bilateral giant adrenal myelolipoma producing abdominal pain in a 54-year-old man, who presented to his primary care physician with complaints of right shoulder pain with vague abdominal discomfort...
June 2002: American Surgeon
https://www.readbyqxmd.com/read/11856939/progressive-slippage-after-pinning-for-slipped-capital-femoral-epiphysis
#17
James O Sanders, William J Smith, Earl A Stanley, Matthew J Bueche, Lori A Karol, Henry G Chambers
The authors retrospectively reviewed seven cases of progressive slipped capital femoral epiphysis after screw fixation. All seven patients initially presented with chronic symptoms, and five had an acute exacerbation of symptoms with the appearance of an acute-on-chronic slip. Of the other two, one had obvious motion at the proximal femoral physis and the other had increased symptoms but did not have an obvious acute slip radiographically. All underwent percutaneous screw fixation. In four patients a single screw was placed, and in three patients two screws were placed...
March 2002: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/11306912/carney-complex-an-unexpected-finding-during-puerperium
#18
S Schulz, A Redlich, I Köppe, K Reschke, W Weise
Carney complex is an extremely rare, autosomal dominant, multi-system disorder characterized by multiple neoplasias and lentiginosis. The genetic defect responsible for this complex has been localized to the short arm of chromosome 2 (2p16). The most prevalent clinical manifestations in patients with Carney complex are spotty skin pigmentation, skin and cardiac myxomas, Cushing's syndrome and acromegaly. Here we report the case of a 31-year-old woman with a spontaneous pregnancy. At 32 weeks of gestation, she was admitted to our Department of Obstetrics with hypertension and severe back pain...
2001: Gynecologic and Obstetric Investigation
https://www.readbyqxmd.com/read/9829219/pituitary-macroadenoma-and-cushing-s-disease-in-pediatric-patients-patient-report-and-review-of-the-literature
#19
REVIEW
D Damiani, C H Aguiar, C E Crivellaro, J A Galvão, V Dichtchekenian, N Setian
Cushing's syndrome in pediatric patients has been rarely reported and most of the cases are due to adrenal tumors. When the etiology is an ACTH-secreting pituitary adenoma, most often it is a microadenoma. We report on a 9 year-old girl with an ACTH-secreting macroadenoma, whose surgical removal through transsphenoidal approach was extremely difficult due to invasion of the cavernous sinus as well as adjacent structures. After two surgical approaches and stereotactic radiotherapy, she still suffers from the deleterious effects of hypercortisolism, especially marked osteoporosis with vertebral collapse, which interferes with her walking and causes excruciating pain...
September 1998: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/8717265/-clinical-study-of-nineteen-thymic-carcinomas
#20
K Kondo, Y Yamakawa, H Niwa, M Kiriyama, I Fukai
Nineteen cases of thymic carcinoma treated in our hospital (mean age 60.0 years, seven males and twelve females) were studied clinically. Thirteen cases (68.4%) had subjective symptom; for example, chest pain, face edema or cough. Two cases (10.5%) had the associated diseases; one had gammaglobulinemia, the other one had Cushing syndrome and hypogammaglobulinemia. The histological subtypes were eleven squamous cell carcinomas (SCC) (57.9%), three undifferentiated carcinomas, two small cell carcinomas, one papillary adenocarcinoma and one lymphoepithelioma-like carcinoma...
February 1996: [Zasshi] [Journal]
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