Most CNC patients initially present with adrenocorticotropic hormone (ACTH)-independent Cushing's syndrome due to PPNAD or heart myxomas. Skin lesions are the most common CNC manifestation: lentigines are present in 70 to 75% of patients with CNC. [genome.jp]

CNC-associated skin lesions can present as a spotty skin pigmentation which occurs in more than 80% of patients [5] or a cutaneous myxoma which is a benign dermal tumor present in less than 50% of patients. [hindawi.com]

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]

Acromegaly, when present, is generally characterised by a slow, progressive clinical course. Patients presenting with acromegaly as the primary manifestation of the CNC usually have pituitary macroadenomas (tumour size bigger than 10 mm). [insightsimaging.springeropen.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]

• Fever

  Systemic symptoms such as fever, joint pains, and a lupus-like butterfly facial rashes may accompany the myxomas (and may be due to the production of the proinflammatory cytokine interleukin-6 by the myxoma). [medicinenet.com]

  Genes related to Carney Complex, Type 1; Cnc1 PRKAR1A View recommended genes panels Clinical Features Top most frequent phenotypes and symptoms related to Carney Complex, Type 1; Cnc1 Neoplasm Muscle weakness Pain Hypertension Fever Fatigue Respiratory [mendelian.co]

  Presentation [ edit ] The spotty skin pigmentation and lentigines occur most commonly on the face, especially on the lips, eyelids, conjunctiva and oral mucosa. [3] Cardiac myxomas may lead to embolic strokes and heart failure [4] and may present with fever [en.wikipedia.org]

  Clinical features The spotty skin pigmentation and lentigines occur most commonly on the face, especially on the lips, eyelids, conjunctiva, and oral mucosa. [3] Cardiac myxomas may lead to embolic strokes and heart failure [4] and may present with fever [ipfs.io]

• Weight Gain

  gain, high blood pressure, diabetes, easy bruising, and other health problems). [my46.org]

  Other common features of Carney complex are Cushing�s syndrome (a combination of weight gain, high blood pressure, diabetes, and easy bruising, caused by the overproduction of a specific hormone) and multiple thyroid nodules (tumours) or growth hormone-secreting [fipapatients.org]

  A 16-year-old boy was admitted because of excessive weight gain over 3 years and purple striae for 1 year. Physical examination revealed Cushingoid features and spotty skin pigmentation on his face, lip, and sclera. [journals.lww.com]

  The hallmark of CS is excessive weight gain with concurrent stagnation of growth velocity. Because of the weight increase, CS in CNC is hardly, if ever, described as FTT, despite the decrease in height gain. [karger.com]

  Cushing syndrome usually presents in adolescence or young adult life with its classic features such as abnormal fat distribution, striae, easy bruising and hypertension; in children it may cause weight gain and growth arrest. [dermatologyadvisor.com]

• Short Stature

  Stature, Retarded Bone Age, and Multiple Extragenital Malformations Aksu von Stockhausen Syndrome Al Gazali Aziz Salem Syndrome Al Kaissi Syndrome Al-Gazali Syndrome Alagille syndrome Alexander Disease Alzheimer's disease 1 + Alzheimer's disease 2 Alzheimer's [rgd.mcw.edu]

  Noonan syndrome – Characterized by a webbed neck, hypertelorism, short stature, undescended testicles, low posterior hairline, cardiovascular anomalies, lymphedema, dystrophic nails, and curly hair. Allelic mutations to LEOPARD. [visualdx.com]

  Stature and Insidious Symptoms: A Clinical Series. 5 Navarro Moreno C...Lysy PA 29909407 2018 13 Endocrinological and phenotype evaluation in a patient with acrodysostosis. 5 Ueyama K...Ozono K 28804209 2017 14 Functional Characterization of PRKAR1A [malacards.org]

  The patients with this syndrome have short stature. Patients also may have diabetes, osteoporosis, cataracts, peripheral vascular disease, or different types of malignant tumors (sarcomas and osteosarcomas). [shifrinmd.com]

  Soljak MA, Aftimos S, Gluckman PD : A new syndrome of short stature, joint limitation and muscle hypertrophy. Clin Genet 1983; 23 : 441–446. 28. [nature.com]

• Weakness

  Genes related to Carney Complex, Type 1; Cnc1 PRKAR1A View recommended genes panels Clinical Features Top most frequent phenotypes and symptoms related to Carney Complex, Type 1; Cnc1 Neoplasm Muscle weakness Pain Hypertension Fever Fatigue Respiratory [mendelian.co]

  Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA Click here for correspondence address and email Date of Web Publication 14-Aug-2014 Abstract A 22-year-old male became unconscious and was found to have left-sided weakness [ijpmonline.org]

  He sometimes suffered from self-limited episodes of non-exertional palpitation, dyspnea, weakness, and pallor. He had some features of acromegaly (such as increase in acral size and frontal bossing). [arya.mui.ac.ir]

  Neurology exam revealed somnolence but easily arousable, able to follow two step commands, memory appeared intact; speech was dysarthric, left homonymous hemianopia, left facial droop and weakness. [heraldopenaccess.us]

  Muscle weakness. Pins-and-needles feeling (paresthesia). Pain that’s aching, burning or sharp. Vestibular schwannomas can affect hearing and balance and/or cause ringing sensations (tinnitus). [my.clevelandclinic.org]

• Sepsis

  Patient 11 also presented with severe dermatitis, which disrupted the microbial barrier of the skin and was probably the main reason for her sepsis and viremia. [karger.com]

• Nausea

  […] flow or bits broke off and caused several small strokes, and it happened that their little baby siblings died early of suspected strokes before they knew about Carney Complex but the cardiologist berates me for going to the ER for headaches, dizziness, nausea [smallsizebighope.com]

• 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]

  Lesions can be brown-black, blue, or freckles. Myxoid tumors of many types may develop on any skin surface, including eyelids. Myxomas of the heart, especially atrial myxomas, are not uncommon. [genedx.com]

  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]

• 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]

• Headache

  […] myxomas that blocked flow or bits broke off and caused several small strokes, and it happened that their little baby siblings died early of suspected strokes before they knew about Carney Complex but the cardiologist berates me for going to the ER for headaches [smallsizebighope.com]

  There was no history suggestive of increase in acral size, headache, galactorrhea, abdominal striae, easy bruisaibility, proximal weakness, skin pigmentation, nor any family history of such illness. [edmcasereports.com]

  They produce excessive adrenaline (epinephrine) secretion leading to tachycardia, palpitations, hypertension and headache. [patient.info]

• Encephalopathy

  One patient had been previously diagnosed with Dubowitz syndrome (hyperactivity, microcephaly, and eczema in the setting of growth retardation), and, finally, another patient had been previously diagnosed with complex III mitochondrial encephalopathy. [karger.com]

  Ellis-van Creveld syndrome EVC, EVC2 Emery-Dreifuss-Muskeldystrophie FHL1, LMNA, EMD Epidermolysis bullosa simplex, recessive 1 KRT5 Epilepsie/Dravet SCN1A, SCN2A, SCN1B, GABRG2, SCN9A, GABRD, PCDH19, SLC46A1, FOXG1, CDKL5, ARHGEF9, SYN1, GPR98 Epileptic encephalopathy [meduniwien.ac.at]

• Global Developmental Delay

  It is worth noting that apart from the usual CNC-related manifestations, some of these patients shared skeletal abnormalities and global developmental delay. [hormones.gr]

• Dysarthria

  Jul 05, 2018 Published Date: Jul 20, 2018 Abstract We present a case of nearly missed diagnosis of a rare disease entity in a 38 year old female with a past medical history of myxoid neurofibroma who presents with sudden onset of left hemiparesis, dysarthria [heraldopenaccess.us]

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]

• Hypogammaglobulinemia

  Syndrome Le Marec Bracq Picaud Syndrome Lenz Majewski Hyperostotic Dwarfism LEOPARD syndrome + Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities lethal restrictive dermopathy Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia [rgd.mcw.edu]

• Neutropenia

  […] photosensitive trichothiodystrophy + piebaldism + Piepkorn Karp Hickok syndrome Pierson syndrome Pilotto Syndrome Pituitary Hormone Deficiency, Combined, 1 Pituitary Hormone Deficiency, Combined, 4 Podder-Tolmie Syndrome POEMS syndrome poikiloderma with neutropenia [rgd.mcw.edu]

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]

[…] provider will be the best judge to determine a treatment plan. [dovemed.com]

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. [resourcerepository.org]

(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]

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

Outlook / Prognosis What is the prognosis (outlook) for schwannoma? The prognosis (the estimate of how a disease will affect you long-term) for schwannoma depends on a few factors, including: Where the tumor is in your body. How big the tumor is. [my.clevelandclinic.org]

March 1, 2019: Clinical Laboratory # 5 N Kuthiah, C Er Adrenocortical carcinoma is a rare endocrine malignancy with poor prognosis. [readbyqxmd.com]

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]

This timely volume covers history, epidemiology, demographics, clinical diagnosis, pathology, imaging by echo, CT and MRI of both benign and malignant cardiac tumors, either primary or secondary. [books.google.ro]

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]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.de]

[…] myxoma breast testis thyroid brain adrenal gland: primary pigmented nodular adrenocortical disease (PPNAD) pituitary adenoma psammomatous melanotic schwannoma testicular tumors Sertoli cell tumors: most common osteochondromyxoma On this page: Article: Epidemiology [radiopaedia.org]

[…] culture may apply) | Oral Rinse Billing References Groussin et al., 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 [genedx.com]

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

[…] 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 [en.wikipedia.org]

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

Additional genes are likely to be identified that may expand our understanding on the pathophysiology of the cAMP signalling pathway and how genetic defects cause CNC and its individual components such as adrenal tumours. [els.net]

Prevention Can schwannomas be prevented? Unfortunately, schwannomas can’t be prevented. In most cases, they happen randomly for unknown reasons. [my.clevelandclinic.org]

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]