Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0035412 (rhabdomyosarcoma)
 6,156 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Congenital alveolar rhabdomyosarcoma in a newborn was reported. She had multiple subcutaneous tumors and looked like a blueberry muffin baby. From the clinical signs and the histological pictures, a diagnosis of neuroblastoma was considered. Laboratory data showed no abnormalities. Electron microscopic examination revealed myofilament and incipient stria formation. On the basis of these data, a final diagnosis of congenital alveolar rhabdomyosarcoma associated with multiple skin metastases was made.
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PMID:Congenital alveolar rhabdomyosarcoma presenting as a blueberry muffin baby. 260 Feb 81

A rare case of congenital alveolar rhabdomyosarcoma revealing multiple skin metastases in a female neonate is reported. At birth, a ping-pong ball-sized tumor on the neck and a tumor the size of a little finger end on the chin were noticed. Then, multiple skin tumors over the whole body occurred soon after birth. A biopsied small skin tumor was at first interpreted as being compatible with metastatic congenital neuroblastoma. However, immunohistochemical and electron microscopic findings revealed positive immunoreactivity for myoglobin in a few tumor cells and the presence of a few rhabdomyoblasts among poorly differentiated tumor cells, resulting in a final diagnosis of alveolar rhabdomyosarcoma. Therefore, it should be emphasized that in cases of round cell tumor, immunohistochemical and ultrastructural studies are imperative in order to identify the tumor and differentiate it from other forms, including rhabdomyoblastoma, neuroblastoma, Ewing's sarcoma, malignant lymphoma, and small cell carcinoma.
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PMID:Congenital alveolar rhabdomyosarcoma with multiple skin metastases. Report of a case. 338 51

Cancer-related problems are seen frequently by the emergency physician. More difficult presentations are seen with premonitory symptoms, paraneoplastic syndromes, and nonspecific lesions. Dermatologic paraneoplastic syndromes are numerous, nonspecific, and consist of hamartomatous growths, texture changes, new hair growth, or changes in skin color. Alteration of skin color may be of practically any color, localized or diffuse, and of sudden or indolent onset. Hormone production by tumors may lead to acne, hirsutism, gynecomastia, or a cushingoid appearance. Pruritus may herald the onset of leukemia or lymphoma and be intolerable, as with erythroderma. All suspicious presentations require thorough investigation for underlying disease. Metastasis to skin is not common and implies a poor prognosis if seen. Most metastases are seen on the head and neck, anterior chest wall, and abdomen. Basal cell and squamous cell carcinomas commonly occur in sun-exposed areas. Basal cell is locally destructive, whereas squamous cell occasionally metastasizes to local lymph nodes. Malignant melanoma is the leading fatal illness originating in skin, with a dramatic rise in incidence. It is classically described as asymmetric with irregular borders, is elevated, and shows color variegation; however, melanoma may present atypically, particularly in non-whites. Kaposi's sarcoma lesions are well-demarcated, symmetric, smooth nodules that appear purplish-brown, particularly if below the knee (owing to venous stasis). The closely interrelated structures of the eye and orbit are easily disturbed, leading to the presenting symptoms of visual disturbances, exophthalmos, pain, and ocular motility disorders. Primary tumors are not unusual and may include retinoblastoma, rhabdomyosarcoma, and melanoma. Equally common are metastatic lesions, most commonly lung and breast carcinoma. An estimation of the malignancy of bony lesions can be made by assessing the zone of transition, periosteal reaction, and bone destruction. A malignant lesion will more likely have a broad zone of transition, irregular periosteal reaction, and moth-eaten or permeative destruction of trabeculae. Metastatic bone lesions primarily occur in sites of persistent red marrow: skull, ribs, vertebrae, pelvis, and proximal humerus and femur. Bony lesions can be blastic or lytic in nature. Solitary pulmonary nodules that have not grown for 2 years can be assumed to be benign. Calcification seen on plain films are a strong (but not absolute) indication of benignancy. Lesions that are greater than 3 to 4 cm in diameter, have irregular contours, are cavitated with thick walls, have multiple peripheral nodules, and have lack of calcification are more likely malignant.
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PMID:Visual diagnosis of hematologic and oncologic diseases. 849 Nov 9