McCune-Albright Syndrome

 

Epidemiology and Etiology:

ˇ         Somatic (not hereditary) mutation during embryogenesis

ˇ         G-protein gene mutation

ˇ         Results in constitutive activation of adenylyl cyclase

ˇ         Excess production of cAMP

ˇ         Hyperfunction of cells in the involved tissues

 

Common sites:

ˇ         Bones

ˇ         Polyostotic fibrous dysplasia

ˇ         Skin

ˇ         Café au lait skin pigmentation

ˇ         Large

ˇ         Dark

ˇ         Irregular serpiginous borders (coastline of Maine)

ˇ         Endocrinopathies

ˇ         Sexual precocity

ˇ         Hyperthyroidism

ˇ         Pituitary adenomas (GH-secreting)

ˇ         Primary adrenal hyperplasia

 

Gross features:

ˇ         Unilateral bone and skin lesions often

 

Histologic features:

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Immunophenotype:

Marker:

Sensitivity:

Specificity:

 

 

 

 

Molecular features:

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Other features:

ˇ         Severity depends on the number and kinds of cells with the G-protein mutation

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References:

ˇ         Kumar V, Fausto N, Abbas A. Robbins & Cotran Pathologic Basis of Disease, Seventh Edition. 7th ed. Saunders; 2004.