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