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Primary Pigmented Nodular Adrenocortical Disease 1

PPNAD1


Presentation

  • In adolescents and children with PPNAD, the disease frequently presents with periodic CS in which normal cortisol production is interrupted by days or weeks of hypercortisolism.[rarediseases.info.nih.gov]
  • 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]
  • Her lung and heart auscultation were normal and she presented heart rate of 78 beats/min and arterial blood pressure of 130 x 80 mmHg. Her abdomen was painless, without any palpable masses, and presented purple stretch marks.[scielo.br]
  • Abstract Title Primary Pigmented Nodular Adrenocortical Disease: A Rare Condition of Cushing's Syndrome Presenter Name Sameer Prakash Presenter/Author(s) Information Sameer Prakash MS-2 , University of North Texas Health Science Center at Fort Worth Follow[digitalcommons.hsc.unt.edu]
Short Stature
  • Patients with PPNAD often present with atypical CS, which is characterized by an asthenic, rather than obese, body habitus caused by severe osteoporosis, short stature and severe muscle and skin wasting.[rarediseases.info.nih.gov]
  • Sheridan Cyclical Cushing's syndrome presenting as short stature in a boy with recurrent atrial myxomas and freckled skin pigmentation Clin Endocrinol, 28 (1988), pp. 173-180 [30.] N.J. Sarlis, D.A. Papanicolau, G.P. Chrousos, C.A.[elsevier.es]
Fatigue
  • Broaden your range of treatment options for fatigue and migraines with the aid of two brand-new chapters. Keep up to date with recently approved and soon-to-be discovered drugs.[books.google.com]
  • In the past 2 years he gained 50 pounds, during which time he reported intermittent fatigue, vague abdominal pain, and pain in his lower back. There was no history of muscle weakness, hypertension or diabetes.[digitalcommons.hsc.unt.edu]
  • Cardiac myxomas may also cause general, nonspecific symptoms including fatigue, fever, muscle pain (myalgia), difficulty breathing (dyspnea) and unintended weight loss.[rarediseases.org]
Precocious Puberty
  • This tumor is found in the testes as tiny areas of calcification and sometimes can be associated with early development of secondary sexual characteristics (precocious puberty).[rarediseases.org]
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]
Failure to Thrive
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Hypertension
  • Finally, the role of adrenal steroidogenesis in arterial hypertension and fetal programming of adrenal androgen excess as a possible explanation for polycystic ovary syndrome in later life are analyzed.[books.google.com]
  • A 34-year-old lady presented with a 3 year history of central weight gain, hypertension and secondary amenorrhoea.[endocrine-abstracts.org]
  • Author Affiliations From the Division of Endocrinology, Metabolism, and Internal Medicine and the Division of Hypertension (W.F.Y.), and the Section of Surgical Pathology (J.A.C.), Mayo Clinic and Mayo Foundation, Rochester, Minn.; Sacred Heart Hospital[nejm.org]
  • There was no history of muscle weakness, hypertension or diabetes. Diurnal cortisol and ACTH levels, 24-hour urinary free cortisol, and overnight 0.5 mg dexamethasone suppression studies were performed.[digitalcommons.hsc.unt.edu]
  • Patients may be hypertensive or have impaired glucose control prior to therapy. Sign out should include appropriate management and indicate that these symptoms may be due to an excess of cortisol.[clinicaladvisor.com]
Osteoporosis
  • Updated clinical guidelines for diabetes, lipid disorders, obesity management, osteoporosis, and more, as well as essential treatment updates for the medical management of acromegaly, Cushing's Disease, hypercalcemia, and diabetes mellitus.[books.google.com]
  • Patients with PPNAD often present with atypical CS, which is characterized by an asthenic, rather than obese, body habitus caused by severe osteoporosis, short stature and severe muscle and skin wasting.[rarediseases.info.nih.gov]
  • SUSCEPTIBILIDAD A , PANEL SECUENCIACIÓN MASIVA (NGS) 5 GENES (spain)Osteoporosis Susceptibility to , Panel Massive Sequencing (NGS) 5 Genes CALCR, COL1A2, LRP5, VDR, COL1A (spain)Hereditary Pancreatitis , Panel Massive Sequencing (NGS) 5 Genes CFTR,[genelabnet.com]
Severe Osteoporosis
  • Patients with PPNAD often present with atypical CS, which is characterized by an asthenic, rather than obese, body habitus caused by severe osteoporosis, short stature and severe muscle and skin wasting.[rarediseases.info.nih.gov]
  • […] of pelvic indicated severe osteoporosis.[124.205.33.103]
  • Prolonged exposure to undiagnosed hypercortisolism may also explain cases of peculiarly severe osteoporosis in patients with PPNAD. 7,11 Paradoxical cortisol secretion responses after performing the Liddle test (two days of baseline collection, two days[scielo.br]
Sexual Dysfunction
  • Seven new chapters cover palliative care, pancreatic cancer, babesiosis, Zika virus, sexual dysfunction, bronchiolitis, and failure to thrive.[books.google.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]
Adrenocortical Hyperplasia
  • Orpha Number: 189439 Disease definition Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this[rarediseases.info.nih.gov]
  • Another type of bilateral adrenocortical hyperplasia leading to Cushing syndrome – macronodular adrenocortical hyperplasia – is associated with somatic mutations in the gene coding for GNAS complex locus ( GNAS ) in McCune-Albright syndrome (MAS) (40)[scielo.br]
  • PubMed Search: Pigmented[title] adrenocortical hyperplasia Advertisement Page views in 2018: 473 Page views in 2019 to date: 189 Cite this page: Pernick N. Pigmented adrenal cortical hyperplasia. PathologyOutlines.com website. .[pathologyoutlines.com]
  • Macronodular adrenocortical hyperplasia in long- standing Cushing’s disease. J Clin Endocrinol Metab 1984;58:25–31. Crossref Google Scholar 23. Shenoy BV, Carpenter PC, Carney JA. Bilateral primary pigmented adrenocortical disease.[degruyter.com]

Treatment

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  • 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]
  • Management and treatment Bilateral adrenalectomy is the most common treatment for CS due to PPNAD followed by life-long cortisol and mineralocorticoid supplementation. Prognosis Without treatment, CS due to PPNAD can be life-threatening.[rarediseases.info.nih.gov]
  • Rapidly consult with trusted authorities thanks to new expert-opinion treatment strategies and recommendations. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.com]

Prognosis

  • Prognosis Without treatment, CS due to PPNAD can be life-threatening. Last updated: 9/1/2012[rarediseases.info.nih.gov]
  • 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]

Etiology

  • 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.[rarediseases.info.nih.gov]
  • 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]
  • 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

  • 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.[rarediseases.info.nih.gov]
  • 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]
Sex distribution
Age distribution

Pathophysiology

  • Molecular studies of the tumors of the patients will provide additional clues for the pathophysiologic mechanisms leading to PPNAD/Carney complex.[clinicaltrials.gov]
  • Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A ( PRKAR1A ) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology[scielo.br]

Prevention

  • 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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