1 Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience. ( 30875328 ) 2019 2 Familial Forms of Cushing Syndrome in Primary Pigmented Nodular Adrenocortical Disease Presenting with Short Stature and Insidious Symptoms: A Clinical [malacards.org]

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]

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]

• Weight Gain

  A 34-year-old lady presented with a 3 year history of central weight gain, hypertension and secondary amenorrhoea. [endocrine-abstracts.org]

  Methods (b): A 14-1/2 year old Caucasian male was referred for accelerated weight gain, which first became apparent at 8 years of age. [digitalcommons.hsc.unt.edu]

  Several months later, they complained of insidious manifestations of hypercortisolism including weight gain, hypertension and oligomenorrhea. They underwent laparoscopic bilateral adrenalectomy. Pathologically, the excised glands showed PPNAD. [jofem.org]

  CASE REPORT: We report the case of a 20-year-old patient with a history of weight gain, hirsutism, acne, secondary amenorrhea and facial lentiginosis. [scielo.br]

  […] a clinical and in vitro investigation. ( 24512486 ) Bram Z....Stratakis C.A. 2014 15 A rare case of familial Cushing's syndrome with a common presentation of weight gain due to a mutation of the PRKAR1A gene causing isolated primary pigmented nodular [malacards.org]

• Camping

  Abstract A variety of adrenal tumors and bilateral adrenocortical hyperplasias (BAH) leading to Cushing syndrome (CS) may be caused by aberrant cAMP signaling. [thieme-connect.com]

  Elevation in the cellular cAMP levels, and, consequently, binding of cAMP molecules to the regulatory subunits leads to activation of the regulatory subunits, dissolution of the holoenzyme and release of the catalytic subunits. [scielo.br]

  In this Review, we discuss Cushing syndrome and its linkage to dysregulated cAMP–PKA signalling, with a focus on genetic findings in the past few years. [nature.com]

  Interestingly, both PRKAR1A and PDE11A gene products control the cAMP signaling pathway, which can be altered at various levels in endocrine tumors. [link.springer.com]

  ( cAMP-degrading phosphodiesterase 11A and 8B, respectively) ( 4, 5 ). [frontiersin.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]

  Skin: skin atrophy, purple striae, easy bruising, hirsutism, acne; pigmentation occurs with ACTH-dependent causes. Psychological problems: depression, cognitive dysfunction and emotional lability. Osteopenia or osteoporosis. Oedema. [patient.info]

• Intestinal Disease

  Hereditary Intestinal Polyposis Intestinal Diseases Gastrointestinal Diseases Digestive System Diseases Genetic Diseases, Inborn Adrenal Gland Diseases Endocrine System Diseases [clinicaltrials.gov]

• Short Arm

  Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 11p13” refers to band 13 on the short arm of chromosome 11. [rarediseases.org]

  Carney complex, a familial multiple neoplasia and lentiginosis syndrome - Analysis of 11 kindreds and linkage to the short arm of chromosome 2. [familialcancerdatabase.nl]

  Analysis of 11 kindreds and linkage to the short arm of chromosome 2. J Clin Invest. 1996, 97: 699-705. 10.1172/JCI118467. [jmedicalcasereports.biomedcentral.com]

  Analysis of 11 kindreds and linkage to the short arm of chromosome 2. J Clin Invest 97(3):699–705 PubMed Google Scholar 17. [link.springer.com]

  Analysis of 11 kindreds and linkage to the short arm of chromosome 2. J Clin Invest. 1996;97(3):699-705. [ Links ] 9. Castro M, Moreira AC. Diagnóstico laboratorial da síndrome de Cushing. [Laboratorial diagnosis of Cushing's syndrome]. [scielo.br]

• 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. [orpha.net]

  […] of pelvic indicated severe osteoporosis. [124.205.33.103]

  We present a novel PRKAR1A gene germline mutation in a patient with severe osteoporosis and recurrent vertebral fractures. DESIGN: Clinical case report. [hormones.gr]

  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]

• Proximal Muscle Weakness

  On clinical examination, skin atrophy, buffalo hump, moon facies, proximal muscle weakness and elevated blood pressure (145/90 mmHg) were documented. [jmedicalcasereports.biomedcentral.com]

  On examination, she had abdominal adiposity with violaceous striae, facial plethora and hirsutism, atrophic skin, multiple ecchymoses and proximal muscle weakness consistent with Cushing’s syndrome. She had never used exogenous steroids. [edmcasereports.com]

  Additional symptoms include high blood pressure (hypertension), fatigue, purple or red stretch marks (striae) on the abdomen, excessive thirst, weakness of the muscles closest to the body (proximal muscle weakness) and psychological disturbances. [rarediseases.org]

• Long Arm

  Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 11p13” refers to band 13 on the short arm of chromosome 11. [rarediseases.org]

  The clinical manifestations are very variable among patients, even in the same family. 4 Approximately half of the families with CNC that have been studied presented mutations in the gene PRKAR1A, which is located on the long arm of chromosome 17 (17q22 [scielo.br]

  Another locus for PJS has been proposed on the long arm of chromosome 19 (19q13) (106). [bioscience.org]

• Hirsutism

  The patient reported weight gain, secondary amenorrhoea of 2year duration and a recent onset of facial hirsutism. [edmcasereports.com]

  The patient reported a three-year history of hirsutism, acne, menstrual disturbances and mood disorders. [jmedicalcasereports.biomedcentral.com]

  CASE REPORT: We report the case of a 20-year-old patient with a history of weight gain, hirsutism, acne, secondary amenorrhea and facial lentiginosis. [scielo.br]

  […] adrenocortical disease in Chinese adrenocorticotropic hormone-independent Cushing syndrome. ( 29094256 ) Chen S....Lu Z. 2018 4 Primary pigmented nodular adrenocortical disease (PPNAD) as an underlying cause of symptoms in a patient presenting with hirsutism [malacards.org]

  Skin: skin atrophy, purple striae, easy bruising, hirsutism, acne; pigmentation occurs with ACTH-dependent causes. Psychological problems: depression, cognitive dysfunction and emotional lability. Osteopenia or osteoporosis. Oedema. [patient.info]

• Alopecia

  Hirsutism and alopecia, nephrolithiasis (often subclinical), osteoporosis with pathologic fracture, gonadal dysfunction, neurologic difficulties including impairment in cognition and memory, and psychiatric symptoms ranging from anxiety or depression [path.upmc.edu]

  Cronkhite-Canada syndrome is characterized by a diffuse pattern of hyperpigmentation (rather than lentigines), multiple gastrointestinal polyps, and a variety of ectodermal defects, including alopecia (52). [bioscience.org]

• Skin Disease

  Neoplasms Heart Neoplasms Thoracic Neoplasms Neoplasms by Site Heart Diseases Cardiovascular Diseases Abnormalities, Multiple Congenital Abnormalities Skin Abnormalities Melanosis Hyperpigmentation Pigmentation Disorders Skin Diseases Neoplastic Syndromes [clinicaltrials.gov]

• Secondary Amenorrhea

  CASE REPORT: We report the case of a 20-year-old patient with a history of weight gain, hirsutism, acne, secondary amenorrhea and facial lentiginosis. [scielo.br]

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]

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. [orpha.net]

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]

Jiangyuan1,PAN Changyu1,DOU Jingtao1*(1Dept of Endocrinology,General Hospital of PLA,Beijing 100853,China;2Dept of Endocrinology,People's Hospital of Xuanhua County) Objective To investigate the clinical features,results of assisted examination and treatment [en.cnki.com.cn]

Determine the prognosis for carriers and affected individuals. Provide sufficient data for genetic counseling of families with PPNAD and/or Carney Complex. [clinicaltrials.gov]

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

The prognosis is guardedly favourable with surgery. The rare adrenocortical carcinomas have a five-year survival rate of 30% or less. [patient.info]

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]

You need to know the etiologies of chronic hypoadrenocorticism: INFECTIONS Most of Dr. [pathguy.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]

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]

Diagnostic criteria have generally been derived from studies of adult patients despite significant differences in both the physiology of the hypothalamic-pituitary-adrenal axis and the epidemiology of Cushing syndrome in childhood. [pediatrics.aappublications.org]

(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]

Epidemiology [ 1 ] Incidence of Cushing's syndrome is in the region of 10 to 15 people per million, with a higher incidence in people with diabetes, obesity, hypertension or osteoporosis. [ 4 ] In obese patients with type 2 diabetes, especially those [patient.info]

Molecular studies of the tumors of the patients will provide additional clues for the pathophysiologic mechanisms leading to PPNAD/Carney complex. [clinicaltrials.gov]

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]

(See Pathophysiology and Etiology.) [emedicine.medscape.com]

C.A. 2003 47 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 [malacards.org]

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]

A paradoxical rise of urinary free cortisol (UFC) in response to dexamethasone is an early and specific laboratory marker of the disorder, allowing timely bilateral adrenalectomy which may not only prevent severe complications of hypercortisolism, but [jofem.org]

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]

Although ACTH levels tend to be higher in ectopic production, there is significant overlap that prevents use of ACTH alone to distinguish between the conditions (2). [path.upmc.edu]

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]