[Carney complex. Clinical, pathological and genetic features in two generations of a family].
Clinical symptoms of Carney complex occurred in two female members of one family (mother and daughter). In addition to the clinical symptoms, we describe the pathological findings in the adrenals (pigmented nodular hyperplasia of the adrenal cortex), heart (myxoma) and skin/soft tissues (superficial angiomyxomas). Genetic investigation revealed a mutation on the long arm of chromosome 17 in both patients; this mutation had previously been described only in Carney complex type 1. Unilateral adrenalectomy was performed in both these cases, 13 years ago and 7 months ago, respectively. Lifelong cardiac surveillance is mandatory to prevent death from embolism or arrhythmia.
Rothacker
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Gemeinschaftspraxis für Pathologie, Ellerried 7, 19061, Schwerin. mail@patho-sn.de
Kerber
C
C
D000303:Adrenal Cortex Diseases / Q000235:genetics / Q000473:pathology; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D004617:Embolism / Q000517:prevention & control; D005260:Female; D006338:Heart Neoplasms / Q000235:genetics* / Q000473:pathology; D006801:Humans; D006965:Hyperplasia / Q000235:genetics / Q000473:pathology; D009232:Myxoma / Q000235:genetics* / Q000473:pathology; D012878:Skin Neoplasms / Q000235:genetics / Q000473:pathology