McCune Albright Syndrome

McCune Albright Syndrome

McCune-Albright syndrome (#174800, 20ql3.2, somatic mutation of the GNASI gene (139320), ED). The predominant gender is female

Clinical manifestations

• • Skin – spots like coffee with milk
  • Skeletal
  • Polyostotic fibrous dysplasia
  • Pseudarthrosis
  • Rickets
  • pathological fractures
  • neurological
  • Syringomyelia
  • Arnold-Chiari Syndrome
  • Deafness
  • Blindness
  • Endocrine
  • hyperthyroidism
  • hyperparathyroidism
  • Syndrome Itsenko-Cushing
  • precocious puberty
  • pituitary adenomas
  • Acromegaly and pituitary gigantism
  • Gynecomastia.

Treatment has not been developed. Palliative intervention includes orthopedic correction and administration of calcitonin.

Synonyms

• • Albright syndrome
  • Fibrous dysplasia

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See also Albright’s disease

ICD. Q78.1 Polyostotic fibrous dysplasia MIM. Fibrous panostotic dysplasia (139320, 174800,260490)

Notes

• • McKeon-Albright syndrome should not be confused

with inherited osteodystrophy of Albright (Albright’s disease)

• Arnold-Chiari syndrome – a combination of ataxia, nystagmus, cranial nerve palsies and epileptiform seizures, due to congenital displacement of the brain in the caudal direction with its infringement in the foramen magnum
• Fibrous panostotic dysplasia (#260490, 20ql3.2, GNASI gene mutation, p)
• Clinically:
• saddle nose
• Hyperpigmentation of the skin according to the type of the bank of the Main
• Myelofibrosis
• Recurrent hip fractures
• Reducing the thickness of the cortical layer of the bone and the number of bone trabeculae
• Laboratory:
• Increasing the level of alkaline phosphatase
• Increasing the content of 1,25-(OH)2-vitamin D
• hypophosphatemia
• Increasing the concentrations of hydroxyproline and y-carboxyglutamic acid. Literature. Albright F et al: Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females: report of five cases. NewEng. J. Med. 216:727-746; McCune DJ, Bruch H: Progress in pediatrics: osteodystrophia fibrosa. Am. J. Dis. child. 54: 806-848, 1937