Carney complex with PRKAR1A gene mutation

  title={Carney complex with PRKAR1A gene mutation},
  author={Qiuli Liu and Dali Tong and Gaolei Liu and Yu-ting Yi and Dianzheng Zhang and Jun Zhang and Yao Zhang and Zaoming Huang and Yaoming Li and Rongrong Chen and Yanfang Guan and Xin Yi and Jun Jiang},
Rationale: Carney complex (CNC) is a multiple neoplasia syndrome with autosomal dominant inheritance. CNC is characterized by the presence of myxomas, spotty skin pigmentation, and endocrine overactivity. No direct correlation has been established between disease-causing mutations and phenotype. Patient concerns: A 16-year-old boy was admitted because of excessive weight gain over 3 years and purple striae for 1 year. Physical examination revealed Cushingoid features and spotty skin… 
Complejo de Carney: reporte de un caso y revisión de la literatura
El complejo de Carney es una enfermedad caracterizada por lesiones en la piel, tumores endocrinos,  ardiacos, gonadales y en otros órganos, que está asociada con mutaciones del gen PRKAR1A.
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Palatal Soft Tissue Myxoma in a Patient with Carney Complex
A case of a palatal myxoma in a 21-year-old female patient with CNC, presented with a sessile nodule on the hard palate that microscopically showed a multilobulated and highly vascularized myxomatous tissue composed of loosely-arranged spindle, polygonal, and stellate cells, suggestive of myxoid neurofibroma is presented.
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