Zhang l, smyrk tc, young wf jr, stratakis ca, carney ja. Ct is distinct from carney complex, and the carneystratakis syndrome. Carney syndrome definition of carney syndrome by medical. Carney complex cnc is a rare multisystem disorder, inherited in an autosomal dominant manner and characterized by distinctive spotty skin pigmentation, myxomas and endocrine abnormalities. Familial paraganglioma and gastric stromal sarcoma. 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. Affected individuals also usually have changes in skin coloring pigmentation. The carney complex may simultaneously involve multiple endocrine glands such as the pituitary, adrenals, and testes. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 toll free. See pathophysiology, etiology, and clinical presentation. It is characterized by pigmented lesions of the skin and mucosae, cardiac, cutaneous and other myxomatous tumors, and multiple other endocrine and nonendocrine. Tumors associated with carney complex, carney triad and. The mutation can occur randomly for no apparent reason i.
Carney triad ct is characterized by the coexistence of three types of neoplasms, mainly in young women, including gastric gastrointestinal stromal tumor, pulmonary chondroma, and extraadrenal paraganglioma. Carney complex cnc orphanet journal of rare diseases. Signs and symptoms of this condition commonly begin in the teens or early adulthood. Isolated patients with some components of cnc had been previously diagnosed as name nevi, atrial. The eight classic characteristics are cardiac myxoma, cutaneous myxoma, myxoid mammary fibroadenoma, spotty mucocutaneous pigmentation including lentigines and blue. The disorder may involve multiple endocrine glands, in. Carney complex cnc is a rare dominantly inherited multiorgan tumoral disorder that includes cushing syndrome cs. Clinical and molecular features of the carney complex. Dr carneys discovery led to further studies that documented what is termed carney complex. It is a rare condition with a prevalence of 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. Pasini b, mcwhinney sr, bei t, matyakhina l, stergiopoulos s, muchow m, boikos sa, ferrando b, pacak k, assie g, baudin e, chompret a, ellison jw, briere jj, rustin p, gimenezroqueplo ap, eng c, carney ja.
The syndrome is characterized by spotty skin pigmentation pigmented lentigines and blue nevi on the face, including eyelids, vermilion lip borders, conjunctivae, and sclera. 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. A subgroup of patients have abnormalities of an adenylyl cyclase a subunit. Carney complex is a disorder characterized by an increased risk of several types of tumors. The specific symptoms and severity of carney complex can vary greatly from one person to another. Carney stratakis syndrome css is an autosomal dominant inherited condition comprising multifocal paragangliomas pgls and gastrointestinal stromal tumours gist. Carneystratakis syndrome css is an autosomal dominant inherited condition comprising multifocal paragangliomas pgls and gastrointestinal stromal tumours gist. Cnc is most frequently associated with mutations in the protein kinase a type ialpha regulatory subunit. The most common endocrine gland manifestations are acromegaly, thyroid and testicular tumors, and adrenocorticotropic hormone acthindependent cushings syndrome due to primary pigmented. Carney complex is a different disorder from carney triad. The carney complex cnc is a dominantly inherited syndrome characterized by spotty skin pigmentation, endocrine overactivity and myxomas. In most cases, an affected person inherits the mutation from one affected parent. 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. The surgical specimen consisted of a lobulated mass, which on cut section had a uniform. Resection of a large carotid paraganglioma in carney. Carney complex nord national organization for rare. It is a very rare syndrome reported in less than 20 unrelated families to date. Carney stratakis syndrome gist gastrointestinal stromal. 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. It is characterized by pigmented lesions of the skin and mucosae, cardiac, cutaneous and other myxomatous tumors, and multiple other endocrine and nonendocrine neoplasms 1, 2. Individuals with carney complex are at increased risk of developing noncancerous benign.
Carney complex is inherited as an autosomal dominant trait and may simultaneously involve multiple endocrine glands, as in the classic multiple endocrine neoplasia. In many cases, carney complex is due to mutations of the prkar1a gene. Carney triad genetic and rare diseases information. Carney complex genetic and rare diseases information. Pubmed is a searchable database of medical literature and lists journal articles that discuss carney complex. Carney syndrome is a multisystem disorder inherited in an autosomal dominant pattern with variable expressivity. Also considered a familial multiple neoplasia and lentiginosis syndrome linked to prkar1a gene atlas of genetics and cytogenetics in oncology and haematology. Carney complex not to be confused with the carney triad is a rare multiple endocrine neoplasia syndrome characterized by 14 cardiac myxoma. This report describes a massive abdominal and pelvic myxoma in a patient with carneys syndrome. The triad of gastric epitheloid leiomyosarcoma, functioning extraadrenal paragamglioma, and. Clinical and linkage analysis of carney complex 699 the journal of clinical investigation volume 97, number 3, february 1996, 699705 carney complex, a familial multiple neoplasia and lentiginosis syndrome analysis of 11 kindreds and linkage to the short arm of chromosome 2 constantine a. Isolated patients with some components of cnc had been previously diagnosed as name nevi, atrial myxomas, and ephelides and lamb. The carney complex cnc is a rare autosomal, dominantly inherited trait expressed as pigmented skin lesions.
A very rare syndrome characterized by spotty pigmentation on the skin and the development of multiple benign tumors myxoma that can occur just about anywhere in the body but mainly in the skin, breast and heart and endocrine glands such as the thyroid and pituitary gland. Carney syndrome symptoms, diagnosis, treatments and causes. Carney complex is a hereditary genetic condition that may be inherited in an autosomal dominant manner or occur sporadically. Carney complex is a multiple endocrine neoplasia syndrome characterized by heart, endocrine, skin, and neural tumors, as well as a variety of pigmented lesions of the skin and mucosal surfaces. It is noteworthy that nelsons syndrome has not been reported after this treatment in patients with carney complex 6, 10, 18. Approximately 7% of all cardiac myxomas are associated with carney complex. The most common endocrine gland manifestations are acromegaly, thyroid and testicular tumors, and adrenocorticotropic hormone acth. If you have problems viewing pdf files, download the latest version of adobe reader. The symptoms are highly variable depending on the location, size and. Clinical description patients with carneystratakis syndrome have both gist and paraganglioma.
Presented is the case of carney syndrome in a 55yearold man with a gastrointestinal stromal tumor and pulmonary condromas which appeared successively over an. Prkar1a at 17q2324 found in 46% of carney complex cases and. For language access assistance, contact the ncats public information officer. We report a case of a 35yearold patient diagnosed with cushings syndrome complicated with an impaired glucose tolerance igt and a severe psychiatric.
Carney definition of carney by the free dictionary. The complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas, a disorder that is now known as carney complex cnc, is an autossomal dominant and multiple neoplasia syndrome, which was first described in 1985. Cnc is most frequently associated with mutations in the protein kinase a type ialpha regulatory subunit gene prkar1a and is inherited in an. To establish the mayo clinic experience with the cs component, including its clinical, laboratory, and pathologic findings, we performed a retrospective search of the patient and pathologic databases of mayo clinic in rochester, mn. Carney complex is an autosomal dominant syndrome characterized by multiple neoplasias, including myxomas at various sites and endocrine tumors, and. Carney complex and other conditions associated with. Gastricstromal tumors in carney triad are different clinically, pathologically, and behaviorally from sporadic. Massive abdominal and pelvic myxoma in carneys syndrome. Skin pigmentation anomalies include lentigines and blue naevi. The triad of gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma. Reminder of important clinical lesson bmj case reports. Carney complex is an autosomal dominant syndrome associated with spotty pigmentation of the skin, endocrinopathy, and endocrine and nonendocrine tumors. Carney complex is believed to be inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. It is a rare condition with a prevalence of complex rather than carney.
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