Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Of 40 patients (16 males and 24 females), 29 had cardiac myxoma(s), 14 had skin pigmentation (lentigo and several types of nevi) which also commonly affected the lips, 6 had skin myxoma(s), and 12 had both pigmentation and myxoma(s); 18 had primary pigmented nodular adrenocortical disease (Cushing syndrome was present in 11); 10 had myxoid mammary fibroadenomas; 9 had testicular tumor(s) (large-cell calcifying Sertoli cell tumor, Leydig cell tumor, or adrenocortical rest tumor, or a combination); and 4 had pituitary adenoma with gigantism or acromegaly. The maximum number of conditions present together was five, occurring in two patients; each of the remaining patients had at least two of the conditions. The overlap, in this sizeable number of patients, of various combinations of the same rare or very rare conditions unlikely to occur together by chance with any degree of frequency is striking evidence for a unique syndrome. The patients were young (mean age at diagnosis of the first component, 18 years). Pathologic involvement tended to be multicentric (heart and skin) and bilateral in paired organs (adrenal, breast, and testis). Thirteen patients (32%) are alive and well. Twelve patients are alive but with complications of cardiac myxoma (in 8), testicular tumors (in 2), residual Cushing syndrome (in 1), or bilateral pulmonary nodules (in 1). Twelve patients are dead: 9 of cardiac myxoma, 1 of intracranial (nonpituitary) tumor, and 2 postoperatively. The status of three is unknown.
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PMID:The complex of myxomas, spotty pigmentation, and endocrine overactivity. 401 May 1

Recent progress in plastic surgery has been rapid and many new techniques have been developed. Reconstructive procedures have been advanced by a better understanding of the anatomy of the blood supply to skin and muscle, with the subsequent development of the use of axial flaps, musculocutaneous flaps and neurosensory flaps. Burn treatment has advanced greatly, making it possible to successfully treat larger and more complicated burns. The development of microsurgery has made possible free-flap transfer and replantation of amputated parts. Advances in surgical procedures on the hands include a realization that primary repair of lacerated tendons and nerves will give good results. Replacement joints have been developed that can be used in hands for joints destroyed by arthritis or trauma. Craniofacial surgery is a new field of endeavor in plastic surgery, involving new techniques that can be used to treat exophthalmos of Graves' disease and the facial deformities resulting from gigantism and acromegaly. Head and neck procedures have advanced, with the emphasis on immediate reconstruction using new flaps. Techniques for treating cleft lip and palate have been refined. Encouraging results have been reported in the treatment of nevus flammeus with argon lasers. In aesthetic surgical procedures, the aim is for safety and consistent long-lasting results. Improved understanding of the physiology and treatment of radionecrosis has evolved.
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PMID:Advances in plastic surgery. 707 37

The complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas (the Carney complex) is a multisystem tumorous disorder that is transmitted as a mendelian autosomal dominant trait. Approximately 150 affected patients are known worldwide. The myxomas, which tend to be multiple in the involved organ, affect the heart, skin and breast. Typical sites for the skin myxomas are the eyelids, external ear canal, and nipples. The lesions commonly recur after excision. The spotty skin pigmentation includes lentigines and blue nevi, but ephelides and junctional and compound nevi also occur. The lentigines are widespread and typically involve the centrofacial area, including the vermilion border of the lips, and the conjunctiva, especially the lacrimal caruncle and the conjunctival semilunar fold. One or more intraoral pigmented spots are seen occasionally. The blue nevi occur on the face, trunk, and limbs, but not the hands and feet. Endocrine overactivity includes Cushing's syndrome (caused by primary pigmented nodular adrenocortical disease), acromegaly (caused by growth hormone-producing pituitary adenoma), and sexual precocity (caused by large-cell calcifying Sertoli cell tumor). The schwannomas are a special histological type, featuring psammoma bodies and melanin. Most commonly, they affect the upper gastrointestinal tract and sympathetic nerve chains, but a few have occurred in the skin. The most serious component of the Carney complex is cardiac myxoma. Patients suspected of having the syndrome (and their primary relatives) should be examined for this neoplasm.
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PMID:Carney complex: the complex of myxomas, spotty pigmentation, endocrine overactivity, and schwannomas. 764 Feb 2

Recent developments in US instrumentation, in particular the advent of 20-MHz transducers, have made B-mode US imaging of the skin feasible. Various pathologic conditions of the skin, mainly tumors and inflammatory diseases, can now be visualized, measured and monitored. The widely available 7.5- and 10-MHz transducers are adequate for the examination of subcutaneous tissues. The knowledge of the normal anatomy of skin and subcutaneous tissues helps diagnose such pathologic conditions as epidermoid and sebaceous cysts, benign and malignant tumors (nevi, hemangiomas, dermatofibromas, melanomas, lipomas, angiomas and angiosarcomas), inflammatory processes (inflammatory dermatoses, panniculites), traumas and foreign bodies. US was also used to measure subcutaneous fat thickness, especially in malnutrition, diabetes mellitus and acromegaly or in the patients treated with pentoine. Finally, US was employed to guide the needle into the veins of the patients with diffuse edema. Thanks to its excellent spatial resolution and cost-effectiveness, high-resolution US is expected to be used more extensively in the evaluation of skin and subcutaneous tissues.
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PMID:Sonography of the skin and subcutaneous tissues. 833 89

There is concern that growth hormone (GH) therapy may influence the growth of melanocytic nevi. In a review of the experience of the National Cooperative Growth Study, we found no excess of skin cancer in children who were treated with GH. We also reviewed our experience in 90 children with GH deficiency and 24 with Turner syndrome. We found no difference in the nevi count between control subjects and children with GH deficiency, even after many years of GH therapy. Nor was there any relation between the duration of therapy and the nevi count. Children with Turner syndrome had more nevi, but there was no relation to the duration of GH therapy. These findings and the absence of a greater frequency of skin cancer in acromegaly are reassuring. It is unlikely that GH therapy has a significant influence on nevi count or the risk of skin cancer.
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PMID:Melanocytic nevi in children treated with growth hormone. 1050 63

A 33-year-old woman was hospitalized for examination of edematous laryngopharynx. She was acromegalic. A pituitary adenoma with elevated serum levels of growth hormone (GH) and insulin-like growth factor-I (IGF-I) was detected, indicating acromegaly caused by GH-secreting pituitary adenoma. Multiple pigmented nevi were also noted without overt short stature and cubitus valgus. Chromosome analysis revealed that she had contracted Turner syndrome with 47,XXX/45,X/46,XX mosaicism. Transsphenoidal resection of the tumor decreased serum GH and IGF-I levels, but the edema was not improved. Both premature ovarian failure and hypertension appeared after surgery. This case may indicate the important relationships between GH/IGF-I and Turner syndrome.
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PMID:Acromegaly accompanied by Turner syndrome with 47,XXX/45,X/46,XX mosaicism. 1929 45

We describe a 44-year-old man with infertility, acromegaly, and hypergonadotropic hypogonadism. Clinical examination of the patient revealed hyperpigmented macules on the lips, buccal mucosa, and face which were histologically confirmed as cutaneous myxomas and blue nevi. Ultrasound revealed testicular calcifications and multiple hypoechoic thyroid nodules. MR imaging showed a pituitary microadenoma and resection revealed it to be a growth hormone and prolactin-secreting adenoma with the unusual finding of admixed individual mucin-producing cells. We discuss mucin cells in pituitary adenoma, an unreported pathologic finding in a patient with Carney complex.
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PMID:Pituitary adenoma with mucin cells in a man with an unusual presentation of Carney complex. 2364 Apr 26