Definition

Syndrome of fibrous dysplasia associated with skin and endocrine manifestations

Manifestations

Polyostotic fibrous dysplasia

Tendency for the bone lesions to be unilateral

Cafe au lait spots
  • Skin pigmentations found in midline, most commonly over neck, chest, shoulders and pelvic region (sacrum and buttock specifically)
  • Classically, skin pigmentations have border described as "Coast of Maine" – outline jagged or rough like coast of Maine
  • Lesions distinguished from the cafe au lait spots of neurofibromatosis, which have smooth border and described as "Coast of California"
  • Multiple myxomas of soft tissues also found in this condition
Endocrine disturbances
  • Numerous endocrine disturbance may be present: Cushing’s, hyperthyroidism, acromegaly, and adenomas of various endocrine glands
  • Classically, patient presents with precocious puberty and short stature