Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0277787 (stigma)
 13,352 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A family is reported in which the sixth and seventh children, who are twins, have epiloia. No other member of the family has any of the accepted stigma of this condition. It is shown that the twins are dizygotic and so are likely to have inherited their epiloia. Biochemical studies suggest that the father has epiloia and, in view of this, pigmented skin lesions assume diagnosis importance. The significance of this is discussed both in relation to diagnosis in general and to genetic counselling in this family where one of the other children might be affected.
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PMID:Epiloia in twins: a problem in diagnosis and counselling. 5 96

The vlue of epinephrine enhanced angiography in the preoperative distinction of isolated hamartoma (angiomyolipoma without stigma of tuberous sclerosis) from hypernephroma has been largely discounted in the past. The authors performed this procedure in 6 patients (4 with isolated hamartoma and 2 with tuberous sclerosis complex). Vasoconstriction of the tumor vessels in the isolated group suggested the benign nature of the hypervascular mass in all cases. Vasoconstriction stronger than that of normal parenchymal vessels suggested the diagnosis of isolated renal angiomyolipoma. This form of pharmacoangiography should be part of the routine preoperative workup of all solid renal masses.
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PMID:Epinephrine enhanced renal angiography in the diagnosis of hamartoma (angiomyolipoma): a reevaluation. 45 Dec 20

Renal cell carcinoma (RCC) is the most common tumor of the kidney. Angiomyolipoma is frequently present in the patient who has the stigma of tuberous sclerosis. We reported a case of a 39-year-old female, without the stigma of tuberous sclerosis, who was admitted on account of a firm, huge, fixed and palpable mass over the left flank region for one week. After radical nephrectomy, the pathological report was renal cell carcinoma, granular cell type, associated with angiomyolipoma. The literature concerning this unusual case is reviewed.
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PMID:Simultaneous renal cell carcinoma and angiomyolipoma in a kidney--a case report and literature review. 216 49