McCune-Albright
Syndrome
Epidemiology and
Etiology:
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Somatic (not hereditary) mutation during embryogenesis
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G-protein gene mutation
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Results in constitutive activation of adenylyl
cyclase
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Excess production of cAMP
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Hyperfunction of cells in the involved
tissues
Common sites:
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Bones
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Polyostotic fibrous
dysplasia
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Skin
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Café au lait skin pigmentation
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Large
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Dark
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Irregular serpiginous borders
(coastline of Maine)
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Endocrinopathies
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Sexual precocity
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Hyperthyroidism
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Pituitary adenomas (GH-secreting)
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Primary adrenal hyperplasia
Gross features:
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Unilateral bone and skin lesions often
Histologic
features:
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Immunophenotype:
Marker: |
Sensitivity: |
Specificity: |
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Molecular features:
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Other features:
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Severity depends on the number and kinds of cells with the
G-protein mutation
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References:
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Kumar V, Fausto N, Abbas
A. Robbins & Cotran Pathologic Basis of Disease, Seventh
Edition. 7th ed. Saunders; 2004.