Lian Duan, Lin Lu, Carney complex （CNC） is an extremely rare genetic syndrome of pigmented skin lesions, endocrine hyper-function and myxoma. Given its diverse clinical mani-festations, CNC is often misdiagnosed. Re...Lian Duan, Lin Lu, Carney complex （CNC） is an extremely rare genetic syndrome of pigmented skin lesions, endocrine hyper-function and myxoma. Given its diverse clinical mani-festations, CNC is often misdiagnosed. Recognition of some special clinical manifestations and imaging features may help with the diagnosis. Early diagnosis of CNC would alert ongoing surveillance of tumors and complications; the prognosis of CNC may thus be improved by early treatment. Herein, we report two cases of CNC with bone lesions.展开更多
Primary pigmented nodular adrenocortical disease （PPNAD） causes adrenocorticotropic hormone （ACTH）-independent Cushing＇s syndrome （CS）,which is the most frequent endocrine manifestation of Carney complex （CNC...Primary pigmented nodular adrenocortical disease （PPNAD） causes adrenocorticotropic hormone （ACTH）-independent Cushing＇s syndrome （CS）,which is the most frequent endocrine manifestation of Carney complex （CNC）.[1] In the disease process of PPNAD,both presadrenal glands are involved and feature small brown-black nodules separated by the atrophic adrenal cortex.展开更多
Cardiac myxomas are common primary neoplasms of the heart.They are biologically benign but“functionally malignant”because of the potential for embolization.They arise most commonly from the left atrium,but no chambe...Cardiac myxomas are common primary neoplasms of the heart.They are biologically benign but“functionally malignant”because of the potential for embolization.They arise most commonly from the left atrium,but no chambers of the heart are immune.They may be sporadic in the majority but also familial as a part of the Carney complex.Two morphological forms exist:polypoid and papillary.Polypoid myxomas often present with obstructive features,while the papillary forms are more prone to embolization.Histogenesis is still controversial;the current view centres around origin from the primitive pluripotent mesenchymal cells.They may be of giant proportion,be calcified or get infected.Clinical presentation typically involves the triad of intracardiac obstruction,embolic events and constitutional symptoms.Precordial examination findings may simulate those of mitral or tricuspid stenosis.The presence of tumour plop and change of the physical findings with changing position may help differentiation between the two.Echocardiography is the investigation of choice.Echogenic polypoid or papillary mobile mass within the atrial cavity remaining attached to the interatrial septum through a stalk are the tell-tale echocardiographic features.Cardiac magnetic resonance and computed tomographic scanning may have incremental diagnostic value.Histopathological examination reveals abundant loose myxoid stroma with scattered round,polygonal or stellate cells with dense irregular nuclei.Genetic testing may detect mutations in the PRKAR1A gene in the familial form of cardiac myxoma,i.e.the Carney complex.Surgical excision is the mainstay of treatment with low operative mortality,excellent postoperative survival and low recurrence rate.The current trend favours minimal-access surgery with or without robotic assistance.Physicians should have appropriate preparedness to make a timely diagnosis and enthusiastic treatment to avoid potentially fatal complications.展开更多
文摘Lian Duan, Lin Lu, Carney complex （CNC） is an extremely rare genetic syndrome of pigmented skin lesions, endocrine hyper-function and myxoma. Given its diverse clinical mani-festations, CNC is often misdiagnosed. Recognition of some special clinical manifestations and imaging features may help with the diagnosis. Early diagnosis of CNC would alert ongoing surveillance of tumors and complications; the prognosis of CNC may thus be improved by early treatment. Herein, we report two cases of CNC with bone lesions.
文摘Primary pigmented nodular adrenocortical disease （PPNAD） causes adrenocorticotropic hormone （ACTH）-independent Cushing＇s syndrome （CS）,which is the most frequent endocrine manifestation of Carney complex （CNC）.[1] In the disease process of PPNAD,both presadrenal glands are involved and feature small brown-black nodules separated by the atrophic adrenal cortex.
文摘Cardiac myxomas are common primary neoplasms of the heart.They are biologically benign but“functionally malignant”because of the potential for embolization.They arise most commonly from the left atrium,but no chambers of the heart are immune.They may be sporadic in the majority but also familial as a part of the Carney complex.Two morphological forms exist:polypoid and papillary.Polypoid myxomas often present with obstructive features,while the papillary forms are more prone to embolization.Histogenesis is still controversial;the current view centres around origin from the primitive pluripotent mesenchymal cells.They may be of giant proportion,be calcified or get infected.Clinical presentation typically involves the triad of intracardiac obstruction,embolic events and constitutional symptoms.Precordial examination findings may simulate those of mitral or tricuspid stenosis.The presence of tumour plop and change of the physical findings with changing position may help differentiation between the two.Echocardiography is the investigation of choice.Echogenic polypoid or papillary mobile mass within the atrial cavity remaining attached to the interatrial septum through a stalk are the tell-tale echocardiographic features.Cardiac magnetic resonance and computed tomographic scanning may have incremental diagnostic value.Histopathological examination reveals abundant loose myxoid stroma with scattered round,polygonal or stellate cells with dense irregular nuclei.Genetic testing may detect mutations in the PRKAR1A gene in the familial form of cardiac myxoma,i.e.the Carney complex.Surgical excision is the mainstay of treatment with low operative mortality,excellent postoperative survival and low recurrence rate.The current trend favours minimal-access surgery with or without robotic assistance.Physicians should have appropriate preparedness to make a timely diagnosis and enthusiastic treatment to avoid potentially fatal complications.
