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Primary Pigmented Nodular Adrenocortical Disease 1

PPNAD1


Presentation

  • Mild hypokalemia and glucose intolerance were present. Thyroid function tests were normal.[academic.oup.com]
  • Discussion PPNAD usually presents along with CNC while 12% of the cases manifest as a sole presentation, known as iPPNAD [ 9 ].[karger.com]
  • Here we present additional objective data.[omicsonline.org]
  • Kellerman present the expertise and knowledge of hundreds of skilled international leaders on evidence-based clinical management options .[books.google.com]
  • Clinical description Although the majority of cases are diagnosed in the 2nd and 3rd decades of life, a substantial proportion of patients present during early childhood (2-3 years).[orpha.net]
Easy Bruising
  • Easy bruising, facial plethora and proximal myopathy are the most sensitive features of Cushing's syndrome.[clinicaladvisor.com]
  • Cushing’s syndrome in Carney complex is always due to primary pigmented nodular adrenocortical disease (PPNAD), and symptoms may be a combination of weight gain, high blood pressure, diabetes, and easy bruising, caused by the overproduction of the hormone[cancer.net]
Thin Skin
  • On examination, she had a significant cushingoid appearance with a round face, thin skin, supraclavicular fat pad, and proximal muscle weakness. There were purplish striae on her lower abdomen and numerous acne lesions on her face.[karger.com]
Round Face
  • Her round face, easily bruised skin, and proximal myopathy all improved significantly. The dose of antihypertensive drugs was reduced by 50%.[karger.com]
Sexual Dysfunction
  • Seven new chapters cover palliative care, pancreatic cancer, babesiosis, Zika virus, sexual dysfunction, bronchiolitis, and failure to thrive.[books.google.com]
Insomnia
  • Increasing loss of height with kyphosis, neuropsychiatric manifestations (anxiety and insomnia), and reports of significantly decreased bone mineral density ( Table 2 ) led to reevaluation of the patient at the NIH Clinical Center at age 45 yr.[academic.oup.com]

Workup

  • Further workup was consistent with primary pigmented nodular adrenal disease (PPNAD) without evidence of Carney Complex. A bilateral adrenalectomy was performed and the patient maintained on oral adrenal hormone replacement therapy.[digitalcommons.hsc.unt.edu]

Treatment

  • Kellerman offers an in-depth, personal approach to treatment from international experts, ideally suited for today’s busy medical practitioners.[books.google.com]
  • Gain the most effective results for your patients with quick, easy access to the latest evidence-based treatments and therapies. Apply the proven treatment strategies of hundreds of top experts in your field.[books.google.com]
  • Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.com]
  • With key diagnostic points and treatment recommendation tables, you'll have access to the information you need to make accurate clinical decisions. Apply the proven treatment strategies of hundreds of top experts in family and internal medicine.[books.google.com]

Prognosis

  • Determine the prognosis for carriers and affected individuals. Provide sufficient data for genetic counseling of families with PPNAD and/or Carney Complex.[clinicaltrials.gov]
  • MRI T1 lower signal intensity than surrounding atrophic adrenal tissue signal drop out demonstrated on out-of-phase imaging T2: lower signal intensity than surrounding atrophic adrenal tissue Treatment and prognosis The treatment of choice is bilateral[radiopaedia.org]
  • Prognosis Without treatment, CS due to PPNAD can be life-threatening. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Prognosis Complications associated with Carney complex include the following: Recurrent myxoma growth: Myxomas recur in approximately 12-22% of familial cases and in about 1-2% of sporadic cases; individuals with recurrent cardiac myxomas may require[emedicine.medscape.com]
  • Affected individuals or parents of affected children should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.[rarediseases.org]

Etiology

  • To further determine the etiology of Cushing’s syndrome and localize the source of excess glucocorticoids production, additional studies were performed.[digitalcommons.hsc.unt.edu]
  • Etiology More than 90% of reported cases of PPNAD occur as one of the manifestations of Carney complex (CNC; see this term). Although rare, familial cases of isolated PPNAD have also been reported.[orpha.net]
  • (See Pathophysiology and Etiology.)[emedicine.medscape.com]
  • Evidence for orphan nuclear receptor TR4 in the etiology of Cushing disease. Proc Natl Acad Sci U S A 2013; 110(21):8555-8560. Liu NA, Jiang H, Ben Shlomo A, Wawrowsky K, Fan XM, Lin S et al.[csrf.net]

Epidemiology

  • This respected cardiology reference covers everything you need to know - from epidemiology and pathophysiology through diagnosis, risk stratification, treatment, outcome studies, concomitant diseases, special populations and special situations, and future[books.google.com]
  • Summary Epidemiology The prevalence of endogenous Cushing syndrome (CS; see this term) is estimated at 1/26,000. PPNAD is responsible for less than 2% of cases. PPNAD is more frequent in females, especially after puberty.[orpha.net]
  • (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

  • This respected cardiology reference covers everything you need to know - from epidemiology and pathophysiology through diagnosis, risk stratification, treatment, outcome studies, concomitant diseases, special populations and special situations, and future[books.google.com]
  • Groussin L, Cazabat L, Rene-Corail F, Jullian E, Bertherat J (2005) Adrenal pathophysiology: lessons from the Carney complex. Horm Res 64(3):132–139 PubMed CrossRef Google Scholar 5.[link.springer.com]
  • Molecular studies of the tumors of the patients will provide additional clues for the pathophysiologic mechanisms leading to PPNAD/Carney complex.[clinicaltrials.gov]
  • (See Pathophysiology and Etiology.)[emedicine.medscape.com]
  • American Volume 88 1117 – 1132 . ( doi:10.2106/JBJS.E.01041 ) Search Google Scholar Export Citation Glueck CJ Freiberg R Tracy T Stroop D Wang P 1997 Thrombophilia and hypofibrinolysis: pathophysiologies of osteonecrosis .[edmcasereports.com]

Prevention

  • Learn new methods of aggressive patient management and disease prevention to help ensure minimal risk of further cardiovascular problems. Benefit from the authors’ Clinical Pearls to reduce complications of hypertension.[books.google.com]
  • There is some evidence suggesting that statins can prevent osteonecrosis, but it is of note that our patient was never exposed to such treatment ( 19 ).[edmcasereports.com]
  • 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]
  • The curative rate of PPNAD was about 30% by unilateral adrenalectomy, 60% by sub-total adrenalectomy, and nearly 100% by total adrenalectomy. 9 The Nelson syndrome could be prevented by routine dosage of adrenocor- ticosteroid replacement. 10 One case[124.205.33.103]
  • Appropriate Prophylaxis and Other Measures to Prevent Readmission. None VII. What's the evidence? Boscaro, M, Arnaldi, G. "Approach to the Patient with Possible Cushing's Syndrome". J Clin Endocrinol Metab. vol. 94. 2009. pp. 3121-3131.[clinicaladvisor.com]

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