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Carney Complex Type 1

CAR


Presentation

  • Diagnostic cutaneous findings are present in over half of CNC patients, and cutaneous findings at least suggestive of CNC are present in 80%. Most importantly, these cutaneous features present at a young age.[visualdx.com]
  • Methods: A retrospective case series of pediatric patients with CNC presenting with FTT.[karger.com]
  • The clinical characteristics of CNC have been reviewed and are presented in Box 6.15.1 (2, 9). A definite diagnosis of CNC is given if two or more major manifestations are present (4, 9, 11, 12).[oxfordmedicine.com]
  • Most of the cases are familial and the median age of presentation is 20 years.[edmcasereports.com]
  • Heterozygous inactivating mutations of PRKAR1A were reported initially in 45 to 65% of CNC index cases, and may be present in about 80% of the CNC families presenting mainly with Cushing's syndrome.[orpha.net]
Freckles
  • They differ from the common freckles in that there is actual hyperplasia of melanocytes, whereas freckles have normal numbers of melanocytes that produce increased pigment.[visualdx.com]
  • An autosomal dominant multiple neoplasia and lentiginosis syndrome, first described as the association of: (1) primary pigmented nodular adrenocortical disease (PPNAD), a pituitary-independent, primary form of hyperadrenocortisolism; (2) lentigines, freckles[medical-dictionary.thefreedictionary.com]
  • Ephelides (freckles [6] ). Pronounced e-FEE-le-DEEs. [7] LAMB LAMB: Lentigines. Focal melanocyte hyperplasia. Atrial myxomas. Mucocutaneous myxomas. Blue nevi.[librepathology.org]
  • Carney complex variant: Families with trismus, pseudocamptodactyly, freckling and cardiac myxomas have been described with mutations in the MYH8 (myosin heavy chain 8) gene.[dermatologyadvisor.com]
  • Suggestive or associated with CNC findings but not diagnostic are: (1) intense freckling (without darkly pigmented spots or typical distribution); (2) multiple blue nevi of common type; (3) café-au-lait spots or other ‘birthmarks’; and (4) multiple skin[oxfordmedicine.com]
Hirsutism
  • All symptoms of Cushing syndrome including hirsutism and menstrual disturbances resolved after bilateral adrenalectomy...[readbyqxmd.com]
  • All patients were in their late teens or early twenties and had symptoms suggestive of long-standing CS, including high blood pressure, central obesity, hirsutism, and peripheral myopathy.[journals.aace.com]
  • Some affected women may experience disturbances of their menstrual cycles and a male pattern of hair growth (hirsutism).[rarediseases.org]
Radiculopathy
  • The spinal tumors occurred in adults (mean age 32 years, range 18–49 years) who presented with pain and radiculopathy.[thejns.org]
  • It usually affects either the gastrointestinal tract (60%) or the paraspinal sympathetic tract (30%) where it can present with easily misdiagnosed painful radiculopathy in young adults.[dermatologyadvisor.com]
  • Large amount of melanin throughout the area of the tumor (H and E, 400) Case 2 A 33-year-old male developed low back pain and right L5 radiculopathy.[surgicalneurologyint.com]
  • Depending upon their location psammomatous melanotic schwannomas can cause pain or discomfort as well as damage to one or more nerves (radiculopathy). In rare cases, these tumors can become malignant.[rarediseases.org]

Workup

  • A comprehensive workup for metabolic and infectious diseases was negative. At the first evaluation during a febrile episode associated with an acute infection, serum cortisol was 908 nmol/L (normal morning levels 138–690).[karger.com]

Treatment

  • Management and treatment Cardiac myxomas require surgical removal.[orpha.net]
  • Practical, bulleted, highly templated text with easy-to-use features including flow charts and treatment boxes.[books.google.de]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • […] provider will be the best judge to determine a treatment plan.[dovemed.com]

Prognosis

  • (Outcomes/Resolutions) The prognosis for Carney Complex depends upon the location and type of tumors and the combination of signs and symptoms in any given individual In general, the presence of cardiac myxomas indicates a poorer prognosis, with an average[dovemed.com]
  • March 1, 2019: Clinical Laboratory # 5 N Kuthiah, C Er Adrenocortical carcinoma is a rare endocrine malignancy with poor prognosis.[readbyqxmd.com]
  • 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]

Etiology

  • Etiology One of the putative CNC genes located on 17q22-24, ( PRKAR1A ), has been found to encode the regulatory subunit (R1A) of protein kinase A.[orpha.net]
  • (See Pathophysiology and Etiology.)[emedicine.medscape.com]
  • First was the earlier age of CS diagnosis in CNC as compared to other primary adrenal etiologies for CS, such as primary bilateral macronodular adrenocortical hyperplasia, which is usually diagnosed later in life between the age of 50 and 60 (13).[journals.aace.com]
  • (Etiology) The exact cause and development of Carney Complex is unknown It is a genetic disorder, which is inherited in an autosomal dominant manner The defective gene that causes Carney Complex is called CNC1 gene and CNC2 gene.[dovemed.com]

Epidemiology

  • Summary Epidemiology The prevalence of CNC is unknown but it is a rare disease with around 160 index cases identified so far. Clinical description Skin pigmentation anomalies include lentigines and blue nevi.[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[ojrd.biomedcentral.com]
  • Epidemiology and inheritance of CNC Three hundred thirty-eight patients with CNC are known: 144 (43%) males and 194 (57%) females, including Caucasians, African-Americans, and Asians from all continents [North and South America, Europe, Asia (Japan, China[academic.oup.com]
Sex distribution
Age distribution

Pathophysiology

  • ., Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and PPNAD reveals novel mutations and clue for pathophysiology: Augmented PKA signaling is associat Horvath et[genedx.com]
  • (See Pathophysiology and Etiology.)[emedicine.medscape.com]
  • […] neurofibromas, and ephelides . [1] Testicular cancer, particularly Sertoli cell type, is associated with Carney syndrome. [5] Thyroid and pancreas cancer may also occur. [6] [7] Although J Aidan Carney also described Carney's triad it is entirely different. [8] Pathophysiology[ipfs.io]
  • Approximately 7% of all cardiac myxomas are associated with Carney complex. [ 4 ] Pathophysiology Carney complex is most commonly caused by mutations in the PRKAR1A gene on chromosome 17q23-q24, [ 5 ] which may function as a tumor-suppressor gene.[dictionnaire.sensagent.leparisien.fr]

Prevention

  • 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]
  • Cutaneous manifestations thus can be used for early detection of the disease, and may prevent its most dangerous complications. A diagnosis of CNC is given when two or more major criteria are met.[visualdx.com]

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