[Clinical features and pathogenesis of Carney complex, a rare form of multiple endocrine neoplasia syndromes]

Orv Hetil. 2006 Mar 26;147(12):551-5.
[Article in Hungarian]

Abstract

Carney-complex is the rarest and most recently described form of multiple endocrine neoplasia syndromes that is unique both from clinical and pathogenetic aspects. Clinical features include spotty skin pigmentation, cutaneous and cardiac myxomas, multiple endocrine abnormalities and schwannomas. The most characteristic endocrine abnormality is primary pigmented nodular adrenal hyperplasia that may result in clinically apparent Cushing's syndrome. Acromegaly, hyperprolactinaemia, tumours of the testis and ovaries have also been described. Approximately fifty percent of Carney-complex cases are familial, with an autosomal dominant inheritance pattern. About 45-65% of Carney-complex cases are related to mutations of the PRKAR1A gene encoding a regulatory subunit of protein kinase A, but other genetic mechanisms seem to be involved, as well. Here, the authors present a brief synopsis of its clinical and pathogenetical features.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
  • Cyclic AMP-Dependent Protein Kinases / genetics*
  • Diagnosis, Differential
  • Endocrine System Diseases / diagnosis
  • Endocrine System Diseases / genetics
  • Female
  • Fibrous Dysplasia, Polyostotic / diagnosis
  • Fibrous Dysplasia, Polyostotic / genetics
  • Humans
  • Male
  • Multiple Endocrine Neoplasia / diagnosis*
  • Multiple Endocrine Neoplasia / genetics*
  • Multiple Endocrine Neoplasia / pathology
  • Mutation*
  • Neoplasms, Multiple Primary / diagnosis
  • Neoplasms, Multiple Primary / genetics
  • Neurofibromatosis 1 / diagnosis
  • Neurofibromatosis 1 / genetics
  • Peutz-Jeghers Syndrome / diagnosis
  • Peutz-Jeghers Syndrome / genetics
  • Pigmentation Disorders / diagnosis
  • Pigmentation Disorders / genetics

Substances

  • Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
  • PRKAR1A protein, human
  • Cyclic AMP-Dependent Protein Kinases