A 40-year-old woman with known polyostotic fibrous dysplasia presents with café-au-lait spots with irregular ('Coast of Maine') borders and precocious puberty in her daughter. The syndrome combining polyostotic fibrous dysplasia, endocrine hyperfunction, and café-au-lait macules is called:
- A McCune-Albright syndrome ✓
- B Ollier's disease
- C Maffucci syndrome
- D Neurofibromatosis type 1 (NF-1)
Explanation
McCune-Albright syndrome is the triad of polyostotic fibrous dysplasia + café-au-lait skin macules with irregular 'Coast of Maine' borders (vs the smooth 'Coast of California' borders of NF-1) + autonomous endocrine hyperfunction (precocious puberty being commonest; also hyperthyroidism, acromegaly, Cushing's). It is caused by a somatic activating mutation in GNAS (Gsα subunit). Ollier's disease is multiple enchondromatosis without skin/endocrine features. Maffucci syndrome adds hemangiomas to enchondromas with high malignant transformation risk. NF-1 café-au-lait spots have smooth borders and is associated with neurofibromas, not precocious puberty.
Reference: Maheshwari Essential Orthopaedics, 6th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.