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McCune-Albright syndrome

Pathology: 1) polyostic fibrous dysplasia 2) endocrine abnormalities a) hyperthyroidism b) thyrotoxicosis c) hyperparathyroidism d) Cushing's syndrome e) precocious puberty f) acromegaly g) hyperprolactinemia h) autonomous ovarian dysfunction 3) signal transduction anomaly a) constitutive activation of Gs-alpha b) constitutive cAMP elevation Genetics: -> mosacism (GNAS {gsp} 10q13.2, gene for Gs-alpha) Clinical manifestations: 1) precocious puberty 2) pigmented skin patches (cafe-au-lait spots) 3) blindness 4) deafness 5) facial asymmetry 6) symptoms of polyostic fibrous dysplasia * images [3] Management: -> see fibrous dysplasia

Related

fibrous dysplasia

General

developmental disorder syndrome (multisystem disorder) genetic syndrome (multisystem disorder)

Database Correlations

OMIM correlations MORBIDMAP 139320

References

  1. Harrison's Online, Chapter 328, McGraw-Hill, 2002
  2. DermNet NZ. McCune-Albright syndrome http://www.dermnetnz.org/systemic/mccune-albright.html
  3. Uwaifo GI, Griffing GT (images) Medscape: McCune-Albright Syndrome http://emedicine.medscape.com/article/127233-overview
  4. Genetics Home Reference. McCune-Albright syndrome http://ghr.nlm.nih.gov/condition/mccune-albright-syndrome
  5. Information for Patients about Fibrous Dysplasia http://www.osteo.org/newfile.asp?doc=p111i&doctitle=Fibrous+Dysplasia&doctype=HTML+Fact+Sheet