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K. Moran, B. Straka, D. Rankin

McCune-Albright syndrome

McCune-Albright syndrome

Schlüsselwörter McCune-Albright syndrome; ICD 10: Q78.1 Polyostotic fibrous dysplasia, MAS, Albright syndrome, osteitis fibrosa disseminata, PFD, precocious puberty with polyostotic fibrosis and abnormal pigmentation, POFD
Keywords McCune-Albright syndrome; ICD 10: Q78.1 Polyostotic fibrous dysplasia, MAS, Albright syndrome, osteitis fibrosa disseminata, PFD, precocious puberty with polyostotic fibrosis and abnormal pigmentation, POFD
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Summary

McCune-Albright syndrome (MAS) is a disease that affects the skin, bones and endocrine tissues. The incidence of MAS is rare, affecting 1 in 100,000 to 1 in 1,000,000 people globally. It is not inherited, but results from a random mutation in the GNAS gene, an over-activation of adenylate cyclase and hormonal dysregulation. It classically presents with the presence of at least two of its three most common findings; polyostotic fibrous dysplasia (abnormally fragile bones that easily fracture), hyperpigmented skin patches (café au lait spots), and endocrine dysfunction. Acromegaly, pathologic fractures, spinal instability, scoliosis, hyperthyroidism, hypophosphatemia, liver disease, obstructive sleep apnea, neonatal Cushing’s syndrome, neuropathy, hypertension and arrhythmia can also accompany MAS. Airway management is complicated by distortion of the face and airway.    Abnormal bony growth can cause skeletal fractures and spinal instability, which can increase the risk of injury related to patient positioning. Endocrinopathies may also contribute to perioperative cardiac arrhythmias and haemodynamic instability.

 

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