Endocrine tests showed that the sister of our patient also presented PPNAD requiring bilateral adrenalectomy and a similar histopathological pattern was observed. [ncbi.nlm.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]

• Camping

  The stimulatory effect of dexamethasone on cortisol release was not reduced by the adenylyl cyclase inhibitor SQ22536 or potentiated by the phosphodiesterase inhibitor IMBX and the cAMP analog 8Br-cAMP. [ncbi.nlm.nih.gov]

• Cushingoid

  Cushingoid features still did not appear 122 months after left adrenalectomy. In May 2011, this patient was readmitted due to cushingoid characteristics. Paradoxical rise of 24-h UFC to 2-day HDDST was demonstrated. [ncbi.nlm.nih.gov]

• Supraclavicular Fat Pads

  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]

• Intestinal Disease

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

• Chest Pain

  At age 22 years she complained of fatigue and palpitations associated with mid-chest pain. Four cardiac myxomas, suspected from the echocardiogram, were surgically removed. [ncbi.nlm.nih.gov]

• Short Arm

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

  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]

  Kastner Carney complex, a familial multiple neoplasia and lentiginosis syndrome: analysis of 11 kindreds and linkage to the short arm of chromosome 2 [18.] T. Imai, H. Funashashi, Y. Tanak, J. Tobinaga, M. Wada, T. [elsevier.es]

• Severe Osteoporosis

  As the clinical presentation of Cushing syndrome in this group of patients may be atypical (severe osteoporosis or short stature), the detection of multiple, small adrenocortical nodules with CT or MR imaging supports, or may even suggest, the diagnosis [ncbi.nlm.nih.gov]

  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]

  The clinical presentation of CS in this group of patients may be atypical, with common manifestations including an asthenic body habitus, short stature, severe osteoporosis, and severe muscle and skin wasting [ 2 ]. [doi.org]

• Suggestibility

  Finally, both PPNAD and myxoma cells demonstrated ultrastructural features suggestive of neuroendocrine properties. [ncbi.nlm.nih.gov]

  The data suggest that microRNAs are a mechanism that might be involved in the formation of PPNAD nodules and the consequent activation of the Wnt pathway as shown in other studies ( 5, 15 ). [cancerres.aacrjournals.org]

• Episodic Headache

  A 15-year-old boy presented with puffiness of face, progressive weight gain, increased pigmentation of skin over groins and arms and episodic headache for 3 years. He was obese, cushingoid and had gynaecomastia and striae over the axillary region. [doi.org]

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]

• Lymphocytic Infiltrate

  Lymphocytic infiltration and fatty metaplasia within the nodules are two of the prominent histological features. [ncbi.nlm.nih.gov]

  infiltrates Electron microscopy description Zona reticularis and fasciculata type cells Abundant lipofuscin type bodies Back to top [pathologyoutlines.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. [orpha.net]

Bilateral adrenalectomy is the treatment of choice. [ncbi.nlm.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]

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]

Distinguishing between the isolated and syndromic variants of myxoma is essential as it has significant implications for patient management, prognosis and family screening. [doi.org]

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]

Although rare, PPNAD should always be considered among the possible etiologies of CS, due to the high prevalence of this disease in this age group. [ncbi.nlm.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]

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]

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]

Lentiginosis 60–70 Multiple blue nevus Breast ductal adenoma 25 Testicular tumors (LCCSCT: Large-Cell Calcifying Sertoli Cell Tumor) (in male) 33–56 Ovarian cyst (in female) 20–67 Acromegaly 10 Thyroid tumor 10–25 Melanotic schwannoma 8–18 Osteochondromyxoma Epidemiology [doi.org]

Diverse aberrant hormone receptors have been found to be implicated in the regulation of steroidogenesis and pathophysiology of AIMAH. PPNAD can be found alone or in the context of Carney complex, a multiple endocrine neoplasia syndrome. [ncbi.nlm.nih.gov]

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. [doi.org]

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

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]