Fibrous Dysplasia (FD)

Cause
Gain-in-function mutation in the gene encoding the signal transducing G protein.
Clinical Features
o Most cases are monostotic.
Polyostotic Type
-Jaffe type: when 3/4 of the skeleton is involved.

-McCune-Albright syndrome includes polyostotic fibrous dysplasia as part of its presentation.

McCune Albright Syndrome

Clinical Features:
– Endocrine Disturbances: Precocious puberty and/or Hyperthyroidism.

– Multiple areas of cutaneous pigmentation (Café-au-lait spots)

Café au lait pigmentation: unilateral, tanned macules with irregular margins on the trunk and thighs. May also be present on the oral mucosa.
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