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Carney complex, type 1(CNC1)

MedGen UID:
388559
Concept ID:
C2607929
Disease or Syndrome
Synonyms: CARNEY MYXOMA-ENDOCRINE COMPLEX; CNC1
 
Gene (location): PRKAR1A (17q24.2)
 
Monarch Initiative: MONDO:0008057
OMIM®: 160980

Disease characteristics

Excerpted from the GeneReview: Carney Complex
Carney complex (CNC) is characterized by skin pigmentary abnormalities, myxomas, endocrine tumors or overactivity, and schwannomas. Pale brown to black lentigines are the most common presenting feature of CNC and typically increase in number at puberty. Cardiac myxomas occur at a young age, may occur in any or all cardiac chambers, and can manifest as intracardiac obstruction of blood flow, embolic phenomenon, and/or heart failure. Other sites for myxomas include the skin, breast, oropharynx, and female genital tract. Primary pigmented nodular adrenocortical disease (PPNAD), which causes Cushing syndrome, is the most frequently observed endocrine tumor in CNC, occurring in approximately 25% of affected individuals. Large cell calcifying Sertoli cell tumors (LCCSCTs) are observed in one third of affected males within the first decade and in most adult males. Up to 75% of individuals with CNC have multiple thyroid nodules, most of which are nonfunctioning thyroid follicular adenomas. Clinically evident acromegaly from a growth hormone (GH)-producing adenoma is evident in approximately 10% of adults. Psammomatous melanotic schwannoma (PMS), a rare tumor of the nerve sheath, occurs in an estimated 10% of affected individuals. The median age of diagnosis is 20 years. [from GeneReviews]
Authors:
Constantine A Stratakis   view full author information

Additional description

From MedlinePlus Genetics
Carney complex is a disorder characterized by an increased risk of several types of tumors. Affected individuals also usually have changes in skin coloring (pigmentation). Signs and symptoms of this condition commonly begin in the teens or early adulthood.

Individuals with Carney complex are at increased risk of developing noncancerous (benign) tumors called myxomas in the heart (cardiac myxoma) and other parts of the body. Cardiac myxomas may be found in any of the four chambers of the heart and can develop in more than one chamber. These tumors can block the flow of blood through the heart, causing serious complications or sudden death. Myxomas may also develop on the skin and in internal organs. Skin myxomas appear as small bumps on the surface of the skin or as lumps underneath the skin. In Carney complex, myxomas have a tendency to recur after they are removed.

Almost all people with Carney complex have areas of unusual skin pigmentation. Brown skin spots called lentigines may appear anywhere on the body but tend to occur around the lips, eyes, or genitalia. In addition, some affected individuals have at least one blue-black mole called a blue nevus.

Individuals with Carney complex also develop tumors in hormone-producing (endocrine) glands, such as the adrenal glands located on top of each kidney. People with this condition may develop a specific type of adrenal disease called primary pigmented nodular adrenocortical disease (PPNAD). PPNAD causes the adrenal glands to produce an excess of the hormone cortisol. High levels of cortisol (hypercortisolism) can lead to the development of Cushing syndrome. This syndrome causes weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems.

People with Carney complex may also develop tumors of other endocrine tissues, including the thyroid, testes, and ovaries. A tumor called an adenoma may form in the pituitary gland, which is located at the base of the brain. A pituitary adenoma usually results in the production of too much growth hormone. Excess growth hormone leads to acromegaly, a condition characterized by large hands and feet, arthritis, and "coarse" facial features.

Some people with Carney complex develop a rare tumor called psammomatous melanotic schwannoma. This tumor occurs in specialized cells called Schwann cells, which wrap around and insulate nerves. This tumor is usually benign, but in some cases it can become cancerous (malignant).  https://medlineplus.gov/genetics/condition/carney-complex

Clinical features

From HPO
Pheochromocytoma
MedGen UID:
18419
Concept ID:
C0031511
Neoplastic Process
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck PGL [HNPGL]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCC result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas.
Pituitary adenoma
MedGen UID:
45933
Concept ID:
C0032000
Neoplastic Process
A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary).
Thyroid gland carcinoma
MedGen UID:
107811
Concept ID:
C0549473
Neoplastic Process
The presence of a carcinoma of the thyroid gland.
Myxoid subcutaneous tumors
MedGen UID:
331742
Concept ID:
C1834421
Neoplastic Process
Cardiac myxoma
MedGen UID:
743314
Concept ID:
C1960546
Neoplastic Process
A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber.
Palatine myxoma
MedGen UID:
1841606
Concept ID:
C5826787
Neoplastic Process
A myxoma (A benign tumor composed of myxomatous tissue composed of loosely-arranged spindle, polygonal, and stellate cells) localized to the palate. Clinically, such tumors may present as a sessile nodule on the hard palate.
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Acral overgrowth
MedGen UID:
1789172
Concept ID:
C1735881
Disease or Syndrome
Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargment, glove tightness, and hand enlargement.
Schwannoma
MedGen UID:
45053
Concept ID:
C0027809
Neoplastic Process
A benign nerve sheath tumor composed of Schwann cells.
Freckling
MedGen UID:
5272
Concept ID:
C0016689
Finding
The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.
Hirsutism
MedGen UID:
42461
Concept ID:
C0019572
Disease or Syndrome
Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).
Nevus
MedGen UID:
45074
Concept ID:
C0027960
Neoplastic Process
A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.
Red hair
MedGen UID:
66796
Concept ID:
C0239803
Finding
Multiple lentigines
MedGen UID:
272242
Concept ID:
C1328931
Disease or Syndrome
Presence of an unusually high number of lentigines (singular
Profuse pigmented skin lesions
MedGen UID:
371819
Concept ID:
C1834424
Finding
Elevated circulating growth hormone concentration
MedGen UID:
66732
Concept ID:
C0235986
Finding
Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.
Thyroid follicular hyperplasia
MedGen UID:
369530
Concept ID:
C1969546
Finding
Pigmentation of the sclera
MedGen UID:
347969
Concept ID:
C1859882
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Coopmans EC, Korbonits M
Clin Endocrinol (Oxf) 2022 Oct;97(4):424-435. Epub 2022 Mar 29 doi: 10.1111/cen.14706. PMID: 35349723
Keil MF, Stratakis CA
Expert Rev Neurother 2008 Apr;8(4):563-74. doi: 10.1586/14737175.8.4.563. PMID: 18416659Free PMC Article

Recent clinical studies

Etiology

Peiling Yang S, Ngeow J
Endocr Relat Cancer 2016 Dec;23(12):R577-R595. Epub 2016 Nov 2 doi: 10.1530/ERC-16-0067. PMID: 27807061
Nosé V
Adv Anat Pathol 2010 Nov;17(6):428-36. doi: 10.1097/PAP.0b013e3181f8b028. PMID: 20966648
Dotto J, Nosé V
Adv Anat Pathol 2008 Nov;15(6):332-49. doi: 10.1097/PAP.0b013e31818a64af. PMID: 18948764
Nosé V
Endocr Pathol 2008 Winter;19(4):226-40. doi: 10.1007/s12022-008-9045-z. PMID: 18931957

Diagnosis

Peiling Yang S, Ngeow J
Endocr Relat Cancer 2016 Dec;23(12):R577-R595. Epub 2016 Nov 2 doi: 10.1530/ERC-16-0067. PMID: 27807061
Dotto J, Nosé V
Adv Anat Pathol 2008 Nov;15(6):332-49. doi: 10.1097/PAP.0b013e31818a64af. PMID: 18948764

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