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Carney-Stratakis Syndrome

Carney-Stratakis Dyad


Presentation

  • He had presented with abdominal discomfort 12 months earlier. Investigations had revealed a gastrointestinal stromal tumour (GIST) and left adrenalectomy.[ncbi.nlm.nih.gov]
  • In this report, we present the molecular effects of these mutations on these genes and the clinical information on the patients.[ncbi.nlm.nih.gov]
  • Features of the Color Atlas of Pediatric Pathology include: Comprehensive coverage of pediatric surgical and autopsy pathology Each chapter is presented by a recognized expert Practical presentation: concise text highlights diagnostic features making[books.google.com]
  • presentation with the nephrotic syndrome.[journals.lww.com]
  • It presents at a young age (median age: 19 years) with an apparently equal ratio of male and female patients. Clinical description Patients with Carney-Stratakis syndrome have both GIST and paraganglioma.[orpha.net]
Colic
  • […] dominant inheritance - Hearing loss / hypoacusia / deafness Carney-Stratakis syndrome Cowden syndrome Very frequent - Estomach / gastric neoplasm / tumor / carcinoma / cancer - Pheochromocytoma / paraganglioma - Sarcoma Frequent - Acute abdominal pain / colic[csbg.cnb.csic.es]
Failure to Thrive
  • […] to thrive / difficulties for feeding in infancy / growth delay - Gynecomastia / breast / mammary gland enlargement / hyperplasia - High vaulted / narrow palate - Intellectual deficit / mental / psychomotor retardation / learning disability - Irregular[csbg.cnb.csic.es]
Macroglossia
  • […] cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma) - Warts / papillomas Frequent - Adenoma sebaceum - Cavernous / tuberous hemangioma - Fissured / scrotal tongue - Hairy patch - Macrocephaly / macrocrania / megalocephaly / megacephaly - Macroglossia[csbg.cnb.csic.es]
Retinal Vascular Anomaly
  • vascular anomalies / retinal telangiectasia - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Short hand / brachydactyly - Short stature / dwarfism / nanism - T-cell deficiency / cellular immunity deficiency - Thyroid neoplasm[csbg.cnb.csic.es]
Subcutaneous Nodule
  • nodules / lipomas / tumefaction / swelling - Telangiectasiae of mucosae - Thyroid anomalies - Xanthomas / lipomas Occasional - Abnormal / polycystic ovaries - Autism / autistic disoders - Bone cyst - Cafe-au-lait spot - Cataract / lens opacification[csbg.cnb.csic.es]
Skin Fissure
  • […] ileus - Intestinal perforation - Tinnitus Very frequent - Breast neoplasm / tumor / carcinoma / cancer - Follicular / conjunctival hamartomas - Follicular / erythematous / edematous papules / milium - Goiter - Hyperkeratosis / ainhum / hyperkeratotic skin[csbg.cnb.csic.es]
Xanthoma
  • […] protrusion / proeminent / hypertrophic - Meningioma - Neoplasms / tumors - Penis anomalies - Pigmented naevi / naevus pigmentosus / lentigo - Subcutaneous nodules / lipomas / tumefaction / swelling - Telangiectasiae of mucosae - Thyroid anomalies - Xanthomas[csbg.cnb.csic.es]
Chronic Abscess
  • AA or secondary amyloidosis, is most commonly seen in association with chronic infective processes such as chronic abscess or chronic inflammatory diseases such as rheumatoid arthritis.[journals.lww.com]
Short Hands
  • hand / brachydactyly - Short stature / dwarfism / nanism - T-cell deficiency / cellular immunity deficiency - Thyroid neoplasm / tumor / carcinoma / cancer - Uterine / uterus / Fallopian tubes anomalies - Uterus / uterine / cervix / endometrium neoplasm[csbg.cnb.csic.es]
Brachydactyly
  • tumor / carcinoma / cancer - Kyphosis - Melanoma - Myopia - Pectus excavatum - Renal / kidney anomalies - Retinal vascular anomalies / retinal telangiectasia - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Short hand / brachydactyly[csbg.cnb.csic.es]
Psychomotor Retardation
  • […] agenesis / hypoplasia - Cranial hypertension - Failure to thrive / difficulties for feeding in infancy / growth delay - Gynecomastia / breast / mammary gland enlargement / hyperplasia - High vaulted / narrow palate - Intellectual deficit / mental / psychomotor[csbg.cnb.csic.es]
Onset in Adolescence

Workup

  • Review of growth curves in the pre-ceding years is a crucial step in the workup of CS.[dokument.tips]
  • During workup for metastatic disease, a non-functioning periaortic paraganglioma was found ( Figure 2 ).[nature.com]
  • BMAH can be treated by an appropriate antagonist if aberrant receptors are demonstrated that clearly couple to cortisol release, but the detailed workup of such patients is a research undertaking beyond the scope of these guidelines (57).[docshare.tips]

Treatment

  • Significant updates on bariatric surgery, Barrett's esophagus, endoscopic ultrasound, endosonography, treatment of liver disease, and much more keep you current on the latest advances.[books.google.com]
  • Management and treatment Treatment modalities are surgery, embolization and radiotherapy. Chemotherapy with imatinib mesylate may be helpful for some patients with advanced-stage GIST.[orpha.net]
  • Treatment of GIST and the paragangliomas: surgical resection, embolization, sometimes radiotherapy. Adjuvant medical treatment by imatinib mesylate is being evaluated. Anesthetic implications: check for anemia; RX thorax to find a paraganglioma.[sites.uclouvain.be]
  • Final diagnosis and treatment: GIST T3N1M1 Stage IV. A 6 months partial response was observed with Imantinib, but it had to be suspended at 8 th month because of morphometabolic worsening.[endocrine-abstracts.org]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]

Prognosis

  • To present the pathologist with current clinical information on diagnosis, differential diagnosis, staging, and prognosis of thyroid cancers, topics presented are: Poorly differentiated thyroid carcinoma; Paraganglimoa; Immunohistochemical markers for[books.google.com]
  • August 7, 2018 July 12, 2018 RESOURCES CSUK Cancer Assessment , Cancer Care , Cancer Check-up , Cancer Check-ups , Cancer Prognosis , Cancer Screening , Cancer Treatment , Cancer Types , Carney–Stratakis Syndrome , Paragangliomas Tumours , Stromal Tumours[cancerscreeninguk.com]
  • The book explores the molecular genetics, diagnosis, prognosis and therapy of the atypical teratoid/rhabdoid tumor (AT/RT).[books.google.es]
  • […] from the circulating acute-phase reactant serum amyloid A protein which is synthesised by hepatocytes in response to inflammatory cytokines. 1 Serum amyloid A was not measured in this case and may have been useful to help monitor disease activity and prognosis[journals.lww.com]

Etiology

  • Etiology The vast majority of Carney-Stratakis syndrome cases are due to germline mutations of the succinate dehydrogenase (SDH) subunit genes SDHB, SDHC and SDHD.[orpha.net]
  • Its etiology is unknown [ 4 ]. In 2002, Carney and Stratakis reported a... Keywords Paragangliomas Carotid Body Tumour PDGFRA Gene SDHD Mutation Carney Triad These keywords were added by machine and not by the authors.[link.springer.com]
  • Human Genetics DOI: 10.1038/ejhg.2015.142 Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas, is a sporadic condition that is significantly more frequent in females; its genetic etiology[pdfs.semanticscholar.org]
  • (See Pathophysiology and Etiology.)[emedicine.medscape.com]

Epidemiology

  • […] data: Class of prevalence: Average age onset: adolescence / young Average age of death: - Type of inheritance: autosomal dominant Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: variable Average age of death: any age Type[csbg.cnb.csic.es]
  • Summary Epidemiology It is a very rare syndrome reported in less than 20 unrelated families to date. It presents at a young age (median age: 19 years) with an apparently equal ratio of male and female patients.[orpha.net]
  • Terminology Carney complex appears to be preferred over Carney syndrome Epidemiology Incidence of 70 cases per 100,000 individuals Usually white, no gender preference Mean age at diagnosis is 10 - 20 years ( eMedicine: Carney Complex ) Clinical features[pathologyoutlines.com]
  • “Further investigation is necessary to link the histologically confirmed, epidemiological findings from this and other population-based studies with relevant clinical decision making,” Sicklick and colleagues concluded.[healio.com]
  • (See Epidemiology and DDx.) While myxomas are usually sporadic, several familial, autosomal dominant conditions that combine lentiginosis and cardiac myxomas have been described.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • Educators and researchers have to introduce molecular pathways and their genetic variability in their teaching, as well as understanding of classic physiology and pathophysiology.[karger.com]
  • Cushing's 1932 description 1 of the syndrome that results from long-term exposure to glucocorticoids has not been improved upon, but our understanding of its pathophysiologic features and our ability to diagnose and treat the disorder have increased dramatically.Normal[nejm.org]
  • Export citation Add to favorites Track citation Summary This chapter contains sections titled: Lentigo Simplex Lentigo Senilis et Actinicus Centrofacial Lentiginosis LEOPARD Syndrome Carney Complex Other Lentiginoses The Pigmentary System: Physiology and Pathophysiology[onlinelibrary.wiley.com]
  • (See Pathophysiology and Etiology.)[emedicine.medscape.com]

Prevention

  • And if it’s early enough, prevent them. Whether it’s through the most-advanced technology, like brain imaging, or the most-foundational health habits, like rest and exercise, no matter your age, stage, or issue, there’s always hope here.[floridahospital.com]
  • Gareth Baynam, Linda Watson, Alison Rowley The Western Australian Register of Developmental Anomalies monitors congenital anomalies (birth defects) and cerebral palsy in WA assists healthcare planning, guides research and helps to investigate causes, prevention[rarevoices.org.au]
  • MAY 18 2001; 84 (10) : 1314-1316 Hruban-RH; Canto-MI; Yeo-CJ Prevention of pancreatic cancer and strategies for management of familial pancreatic cancer DIGESTIVE-DISEASES. 2001; 19 (1) : 76-84 Woodford-Richens-KL; Halford-S; Rowan-A; Bevan-S; Aaltonen-LA[malattierare.regione.veneto.it]
  • Women with Carney complex may be at a high risk for recurrent atrial myxomas that lead to multiple strokes. [22] Early identification of a female patient with Carney complex may facilitate stroke prevention.[emedicine.medscape.com]

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