Carney complex is a hereditary genetic condition that may be inherited in an autosomal dominant manner or occur sporadically. The carney complex may simultaneously involve multiple endocrine glands such as the pituitary, adrenals, and testes. Aidan carney md, phd, frcp, emeritus professor of pathology, mayo clinic, for assistance in the preparation of this report. Carney triad genetic and rare diseases information. Vasukutty, elena belyavskaya, anish ahamed, margarita raygada, and constantine a. Bartter syndrome bs is a hereditary condition transmitted as an autosomal recessive bartter type 1 to 4 or dominant trait bartter type 5. We studied 101 subjects, including 51 affected members, from 11 north american kindreds with carney complex. A case report, authorhamza elfekih and faten hadjkacem and dorra ghorbel and fatma mnif and nabila rekik and mouna mnif and mohamed abid, year2017 a 35. Carney triad genetic and rare diseases information center. Carney stratakis syndrome gist gastrointestinal stromal. Zhang l, smyrk tc, young wf jr, stratakis ca, carney ja. See pathophysiology, etiology, and clinical presentation. Feb 27, 2020 carney complex is an autosomal dominant syndrome associated with spotty pigmentation of the skin, endocrinopathy, and endocrine and nonendocrine tumors.
The disease associates hypokalemic alkalosis with varying degrees of. Men type 1 men 1, which affects primarily the pituitary, pancreas, and parathyroid glands, is caused by mutations in the menin gene. Carney triad is a rare syndrome defined by the coexistence of three tumors extraadrenal paraganglioma e. Clinical and molecular features of the carney complex. Carney syndrome atrial, cutaneous and mammary myxomas, lentigines, blue naevi, endocrine disorders and testicular tumours it has been suggested that these conditions may all be part of a spectrum of manifestations of the same disorder. A subgroup of patients have abnormalities of an adenylyl cyclase a subunit.
Carney complex is inherited as an autosomal dominant trait and may simultaneously involve multiple endocrine glands, as in the classic multiple endocrine neoplasia syndromes 1 and 2. Clinical and molecular genetics of patients with the carneystratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits sdhb, sdhc, and sdhd. Approximately 7% of all cardiac myxomas are associated with carney complex. Tumors associated with carney complex, carney triad and. Carney complex cnc is a rare syndrome, first described by ja carney et al. Carney complex is an inherited condition characterized by spotty skin. It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person. Recommended clinical surveillance of patients with cnc pdf 2014. The cardiac tumors are myxomas which can arise in any chamber of the heart. Impaired succinate dehydrogenase sdh function resulting from chromosomal losses but not mutations has been detected in some patients with carneys triad, while sdhd, sdhb or sdhc germline mutations have been found in some patients with carneystratakis dyad see this term.
Primary pigmented nodular adrenocortical disease ppnad is a pituitaryindependent, primary adrenal form of hypercortisolism characterized by a resistance to suppression by dexamethasone and abolition of the normal diurnal rhythm of cortisol secretion, and b distinctive, bilateral, histopathologic changes of the adrenal glands, such as the formation of variably sized, pigmented nodular. This report describes a massive abdominal and pelvic myxoma in a patient with carneys syndrome. This means that the risk of developing cancer and other features of carney complex can be passed from generation to generation in a family through genes mutations alterations. The most common endocrine gland manifestations are acromegaly, thyroid and testicular tumors, and adrenocorticotropic hormone acthindependent cushings syndrome due to primary pigmented.
Massive abdominal and pelvic myxoma in carneys syndrome. Syndrome of spotty skin pigmentation, myxomas, endocrine. A century after the description of endogenous cushings syndrome, con. Prkar1a at 17q2324 found in 46% of carney complex cases and cnc2 gene at 2p16 j med genet 2003.
The list of multiple endocrine neoplasias mens that have been molecularly elucidated is growing with the most recent addition of carney complex. Carney complex is an inherited condition characterized by spotty skin pigmentation, cardiac heart myxomas tumors composed of mucous connective tissue, skin myxomas, endocrine tumors or overactivity, and schwannomas. Carneystratakis syndrome caused by a novel sdhd mutation. Individuals with carney complex are at increased risk of developing noncancerous benign. The clinical spectrum of carneystratakis syndrome varies widely, depending on the localization and the size of the tumors, and may include a palpable mass, dysphagia, abdominal pain, weight loss, hematemesis, melena, obstruction, perforation, cranial nerve palsies, tinnitus and hearing loss. Apr 06, 2015 carney complex is an inherited condition characterized by spotty skin pigmentation, cardiac heart myxomas tumors composed of mucous connective tissue, skin myxomas, endocrine tumors or overactivity, and schwannomas. Presented is the case of carney syndrome in a 55yearold man with a.
Carney triad is a rare syndrome defined by the coexistence of three tumors. Previously, it was called name nevi, atrial myxoma, ephelides and lamb lentigines, atrial myxoma, blue nevi syndrome 4,5. Signs and symptoms of this condition commonly begin in the teens or early adulthood. Carney complex genetic and rare diseases information center. This means that the risk of developing cancer and other features of carney complex can be passed from generation to generation in a. Clinical, pathological, and molecular genetic findings in the 17 affected mayo clinic patients. Also considered a familial multiple neoplasia and lentiginosis syndrome linked to prkar1a gene atlas of genetics and cytogenetics in oncology and haematology. Syndrome of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas carney complex. Cushings syndrome results from chronic exposure to excess glucocorticoids, which can be from either exogenous pharmacological doses of corticosteroids or from an endogenous source of cortisol. Carney complex nord national organization for rare disorders. The carney complex is an autosomal dominant syndrome characterised by multiple neoplasies, including myxomas at various sites cardiac, cutaneous, mammary, spotty pigmentation, endocrine overactivity cushings syndrome, acromegalia, testicular tumours and schwannomas. Among the endocrine manifestations of cnc, cushing syndrome cs is the most common, evolving from a distinct type of adrenal hyperplasiaprimary pigmented nodular adrenocortical disease ppnad. Pdf clinical and molecular genetics of patients with the.
Carney complex is a rare genetic disorder characterized by multiple benign tumors multiple neoplasia most often affecting the heart, skin and endocrine system and abnormalities in skin. Carney complex cnc is a rare multisystem endocrine disorder described in 1985 by dr. In patient 4, carney complex was diagnosed on the basis of a combination of myxomas at different sites and alterations in the prkar1a gene in the patient and the patients mother. Feb 01, 1996 carney complex is an autosomal dominant syndrome characterized by multiple neoplasias, including myxomas at various sites and endocrine tumors, and lentiginosis. Carney complex is an autosomal dominant syndrome associated with spotty pigmentation of the skin, endocrinopathy, and endocrine and nonendocrine tumors. Carney complex is a multiple neoplasia syndrome featuring cardiac, endocrine, cutaneous, and neural tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney triad is a rare syndrome of unknown etiology characterized by having at least two out of three following neoplasms. N a courcoutsakis, c k chow, t h shawker, j a carney, c a stratakis. Carney complex cnc is a rare multiple neoplasia syndrome characterized by spotty pigmentation of the skin and mucosa, myxomas and endocrine tumors.
Defining the genetic basis for the development of primary. The carney complex cnc is a dominantly inherited syndrome characterized by spotty skin pigmentation, endocrine overactivity and myxomas. The genetic defects responsible for the complex remains unknown. Carney stratakis syndrome in a patient with sdhd mutation. Clinical and molecular genetics of patients with the. Carney complex is an autosomal dominant syndrome characterized by multiple neoplasias, including myxomas at various sites and endocrine tumors, and lentiginosis. Men type 2 men 2 syndromes, men 2a and men 2b that affect mainly the thyroid and parathyroid glands and. Tumors associated with carney complex, carney triad and carneystratakis syndrome. In 1977, carney described an unusual syndrome characterized by the successive or concomitant appearance of three different tumors. Carney complex also has some similarities to mccunealbright syndrome, a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors. The surgical specimen consisted of a lobulated mass, which on cut section had a uniform gelatinous consistency. Affected individuals also usually have changes in skin coloring pigmentation.
The most common endocrine gland manifestations are acromegaly, thyroid and testicular tumors, and adrenocorticotropic hormone acthindependent cushings syndrome due to primary. Carney complex cnc is a rare, multiple endocrine neoplasia and lentiginosis syndrome, characterized by abnormal cutaneous and mucosal. This report describes a massive abdominal and pelvic myxoma in a patient with carney s syndrome. The clinical spectrum of carney stratakis syndrome varies widely, depending on the localization and the size of the tumors, and may include a palpable mass, dysphagia, abdominal pain, weight loss, hematemesis, melena, obstruction, perforation, cranial nerve palsies, tinnitus and hearing loss.
The triad of gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma. Impaired succinate dehydrogenase sdh function resulting from chromosomal losses but not mutations has been detected in some patients with carney s triad, while sdhd, sdhb or sdhc germline mutations have been found in some patients with carney stratakis dyad see this term. Carney complex cnc is a multiple neoplasia syndrome, inherited in an autosomal dominant manner, characterized by myxomas, spotty skin pigmentation, endocrine tumors and. A 38 year old woman presented with abdominal distension and a palpable mass, and at operation a large pelvic and abdominal tumour was identified and resected.
In patient 5, the diagnosis of carney complex was based on the presence of lentiginosis, recurring myxomas, and genetic alterations in the patient and 2 of her children. Skin pigmentation anomalies include lentigines and blue naevi. Aidan carney as the combination of myxomas, spotty skin pigmentation, and endocrine overactivity. Carney syndrome definition of carney syndrome by medical. Sep 01, 2008 the etiology is not completely understood. Some families with this condition have been found to have mutations in the prkar1a gene. Clinical genetics of multiple endocrine neoplasias, carney. Carney complex cnc is a rare autosomal dominant syndrome. Carney complex cnc orphanet journal of rare diseases.
Carney complex genetic and rare diseases information. Carney complex is a disorder characterized by an increased risk of several types of tumors. A case report, authorhamza elfekih and faten hadjkacem and dorra ghorbel and fatma mnif and nabila rekik and mouna mnif and mohamed abid, year2017 a 35yearold female was referred in mai 1999 to our. Carney complex and its subsets lamb syndrome and name syndrome are autosomal dominant conditions comprising myxomas of the heart and skin, hyperpigmentation of the skin lentiginosis, and endocrine overactivity. A multiple neoplasia syndrome with cardiac, endocrine, cutaneous, and neural tumors together with spotty pigmentation of the skin, particularly on the face, lips, and trunk, and mucosa. Carney complex cnc is a rare multiple neoplasia syndrome involving cardiac, endocrine, neural, and cutaneous tumors and a variety of pigmented skin lesions.