McCune-Albright Syndrome Differential Diagnoses

Updated: Jan 17, 2019
  • Author: Gabriel I Uwaifo, MD; Chief Editor: George T Griffing, MD  more...
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DDx

Diagnostic Considerations

Early recognition of McCune-Albright syndrome (MAS) is vital. The diagnostic possibility of MAS should be considered in all patients with recurrent fractures, particularly if the fractures occur in the setting of minimal trauma or without trauma. The common pitfall is to simply refer the patient for orthopedic procedures whenever a fracture occurs, without considering the underlying primary diagnosis. The physician should have a high index of suspicion for other endocrinopathies associated with the condition.

If multiple bony fractures and deformity predominate, MAS may be mistaken for a milder form of osteogenesis imperfecta. If precocious puberty predominates, the differential diagnosis becomes even wider and includes congenital adrenal hyperplasia. Vaginal bleeding in neonates and infants is one of the typical presentations of MAS. In this setting, rhabdomyosarcoma of the vaginal tract is an important differential. This typically appears as a “bunch of grapes” (hence the name sarcoma botryoides).

In a typical case, the diagnosis of MAS usually is not in doubt. However, in atypical cases, the combination of cutaneous pigmentation, bony lesions, and soft-tissue masses may suggest other conditions (eg, systemic mastocytosis and neurofibromatosis).

In addition to the conditions listed in the differential diagnosis, other problems to be considered include the following:

  • Central precocious puberty

  • Congenital adrenal hyperplasia

  • Exogenous estrogens, androgens, steroids, or thyroid hormone

  • Organic brain disease or tumors

  • Ovarian tumors

  • Ossifying fibromas of bone

  • Proteus syndrome

  • Russell-Silver syndrome

  • Stein-Leventhal syndrome

  • Thyrotoxicosis

  • Various congenital syndromes associated with hydrocephalus

Differential Diagnoses