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European Journal of Endocrinology Oct 2015Carney complex (CNC) is a rare autosomal dominant syndrome, characterized by pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas and multiple... (Review)
Review
Carney complex (CNC) is a rare autosomal dominant syndrome, characterized by pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas and multiple endocrine tumors. The disease is caused by inactivating mutations or large deletions of the PRKAR1A gene located at 17q22-24 coding for the regulatory subunit type I alpha of protein kinase A (PKA) gene. Most recently, components of the complex have been associated with defects of other PKA subunits, such as the catalytic subunits PRKACA (adrenal hyperplasia) and PRKACB (pigmented spots, myxomas, pituitary adenomas). In this report, we review CNC, its clinical features, diagnosis, treatment and molecular etiology, including PRKAR1A mutations and the newest on PRKACA and PRKACB defects especially as they pertain to adrenal tumors and Cushing's syndrome.
Topics: Carney Complex; Cushing Syndrome; Cyclic AMP-Dependent Protein Kinase Catalytic Subunits; Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; Humans; Mutation
PubMed: 26130139
DOI: 10.1530/EJE-15-0209 -
JTCVS Techniques Mar 2020
PubMed: 34317720
DOI: 10.1016/j.xjtc.2020.01.011 -
Pigment Cell & Melanoma Research Oct 2009Initially described as the 'complex of myxomas, spotty skin pigmentation and endocrine overactivity,' Carney complex (CNC) is known as an autosomal dominant multiple... (Review)
Review
Initially described as the 'complex of myxomas, spotty skin pigmentation and endocrine overactivity,' Carney complex (CNC) is known as an autosomal dominant multiple neoplasia syndrome involving skin and cardiac myxomas, pigmented skin lesions and endocrine tumors. Pigmented cutaneous manifestations in CNC are important diagnostically because they can be used for the early detection of the disease and, thus, the prevention of life-threatening complications of CNC related to heart myxomas and endocrine abnormalities. Specific for the disease skin lesions are present in more than half of the CNC patients. A major challenge is to distinguish pigmented skin lesions associated with CNC from other skin pathology, and thus accurately estimate the risk of cancer in affected patients; curiously, patients with CNC do not appear to have predisposition to skin cancers whereas this is not the case with other genetic syndromes associated with melanotic and other cutaneous lesions. In this paper, we review the current knowledge on cutaneous pathology associated with CNC and the most recent data on the molecular basis of the disease.
Topics: Humans; Lentigo; Myxoma; Pigmentation Disorders; Signal Transduction; Skin Diseases; Syndrome
PubMed: 19650827
DOI: 10.1111/j.1755-148X.2009.00613.x -
Viruses Mar 2015Myxoma virus (MYXV) is the type species of the Leporipoxviruses, a genus of Chordopoxvirinae, double stranded DNA viruses, whose members infect leporids and squirrels,... (Review)
Review
Myxoma virus (MYXV) is the type species of the Leporipoxviruses, a genus of Chordopoxvirinae, double stranded DNA viruses, whose members infect leporids and squirrels, inducing cutaneous fibromas from which virus is mechanically transmitted by biting arthropods. However, in the European rabbit (Oryctolagus cuniculus), MYXV causes the lethal disease myxomatosis. The release of MYXV as a biological control for the wild European rabbit population in Australia, initiated one of the great experiments in evolution. The subsequent coevolution of MYXV and rabbits is a classic example of natural selection acting on virulence as a pathogen adapts to a novel host species. Slightly attenuated mutants of the progenitor virus were more readily transmitted by the mosquito vector because the infected rabbit survived longer, while highly attenuated viruses could be controlled by the rabbit immune response. As a consequence, moderately attenuated viruses came to dominate. This evolution of the virus was accompanied by selection for genetic resistance in the wild rabbit population, which may have created an ongoing co-evolutionary dynamic between resistance and virulence for efficient transmission. This natural experiment was repeated on a continental scale with the release of a separate strain of MYXV in France and its subsequent spread throughout Europe. The selection of attenuated strains of virus and resistant rabbits mirrored the experience in Australia in a very different environment, albeit with somewhat different rates. Genome sequencing of the progenitor virus and the early radiation, as well as those from the 1990s in Australia and Europe, has shown that although MYXV evolved at high rates there was no conserved route to attenuation or back to virulence. In contrast, it seems that these relatively large viral genomes have the flexibility for multiple pathways that converge on a similar phenotype.
Topics: Adaptation, Biological; Animals; Australia; Biological Evolution; France; Genotype; Myxoma virus; Myxomatosis, Infectious; Rabbits; Virulence
PubMed: 25757062
DOI: 10.3390/v7031020 -
Plastic and Reconstructive Surgery.... Feb 2019Cutaneous myxoma is a rare neoplasm typically occurring as an asymptomatic nodule on the head, neck, and chest regions of adults. However, multiple cutaneous myxoma of...
Cutaneous myxoma is a rare neoplasm typically occurring as an asymptomatic nodule on the head, neck, and chest regions of adults. However, multiple cutaneous myxoma of the subungual space is even rarer. Here, we report a case of multiple cutaneous myxoma of the subungual space in which the tumor was removed by creating a mid-radial incision while preserving the nail matrix. The excisional biopsy samples were dispatched for histopathological examination and confirmed to be cutaneous myxoma. To the best of our knowledge, this is the first report on multiple cutaneous myxoma of the subungual space.
PubMed: 30881822
DOI: 10.1097/GOX.0000000000002040 -
Ocular Oncology and Pathology Oct 2016Neurothekeomas (NTKs) are benign cutaneous neoplasms of fibrohistiocytic origin and most commonly occur in the head, neck, and upper extremities. Traditionally, NTK and...
Neurothekeomas (NTKs) are benign cutaneous neoplasms of fibrohistiocytic origin and most commonly occur in the head, neck, and upper extremities. Traditionally, NTK and nerve sheath myxoma (NSM) were classified as subtypes of a single neoplasm with a common histogenesis, but recently immunostaining has demonstrated that the lesions are most likely of distinct cellular origin. Rarely, NTKs have been reported to occur in the ocular adnexa, and the present case of a 39-year-old female is the first to describe a cellular NTK originating in the cornea and mimicking a Salzmann's nodular degeneration. This report describes the clinical and pathological findings of the patient, discusses the changes in the classification of these rare neoplasms in light of advances in immunohistochemistry, and reviews all cases of ocular NTK found in the literature.
PubMed: 27843897
DOI: 10.1159/000444716 -
Frontiers in Genetics 2022Mutations in PRKAR1A gene can lead to Carney complex (CNC), and most CNC patients develop cardiac and cutaneous myxomas. In particular, cardiac myxomas are a common...
Mutations in PRKAR1A gene can lead to Carney complex (CNC), and most CNC patients develop cardiac and cutaneous myxomas. In particular, cardiac myxomas are a common cause of mortality in CNC patients. Cutaneous myxomas of the external ear are extremely rare, and do not have any specific clinical features In this retrospective study, we analyzed the clinical and genetic data of the proband and his family and fifty whole blood control samples selected from the molecular genetic database of our hospital. Whole exome DNA sequencing analysis was used to detect the mutation in the peripheral blood samples. The results of the clinical analysis showed the presence of spotty skin pigmentation and external auditory canal myxoma in the proband as well as in his sister and mother. Whole-exome DNA sequencing showed a novel heterozygous mutation in the PRKAR1A gene i.e., c.824_825delAG (p.Gln275Leufs*2), in the proband and his sister and mother. In conclusion, the family members had the same autosomal dominant PRKAR1A mutation. DNA sequencing revealed a novel c.824_825delAG in exon 9 of PRKAR1A. This pathogenic mutation has not been reported previously, and may be related to the occurrence of external auditory canal myxomas and spotty pigmentation. This study broadens the genotypic spectrum of PRKAR1A mutations in CNC.
PubMed: 36092889
DOI: 10.3389/fgene.2022.947305 -
Reumatologia Clinica 2016Embolic and constitutional manifestations of intracavitary cardiac tumors are included within the classic mimickers of systemic vasculitis, especially in those in which... (Review)
Review
BACKGROUND AND OBJECTIVE
Embolic and constitutional manifestations of intracavitary cardiac tumors are included within the classic mimickers of systemic vasculitis, especially in those in which there are no cardiac manifestations. We present a case report of atrial myxoma in which the patient only presented systemic symptoms and in whom an initial diagnostic approach of systemic vasculitis was made. We also performed a literature search of the cases described.
PATIENT AND METHOD
A case report of atrial myxoma with atypical presentation manifested as a systemic disease with no concomitant cardiac symptoms is described. The case report is discussed and 11 cases of atrial myxoma pseudovasculitis described in the literature are reviewed, emphasizing their similarities and differences.
DISCUSSION
Constitutional symptoms and cutaneous manifestations were the most common. Most of the cases showed partial response to glucococorticosteroid treatment, reinforcing the theory of the inflammatory role in its pathogenesis. Mean delayed time to diagnosis was 12.27 months.
CONCLUSION
Atrial myxoma is a systemic vasculitis mimicker, this being difficult to diagnose in the absence of cardiac manifestations. This delay in diagnosis entails serious complications.
Topics: Delayed Diagnosis; Diagnosis, Differential; Heart Atria; Heart Neoplasms; Humans; Male; Middle Aged; Myxoma; Systemic Vasculitis
PubMed: 25935820
DOI: 10.1016/j.reuma.2015.03.006