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McCune Albright Syndrome

Abstract

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NORD gratefully acknowledges Emily K Sims, MD, Section of Pediatric Endocrinology/Diabetology, Riley Hospital for Children, Indiana University School of Medicine, for assistance in the preparation of this report.

Synonyms of McCune Albright Syndrome

  • Albright syndrome
  • MAS
  • osteitis fibrosa disseminata
  • PFD
  • POFD
  • polyostotic, fibrous dysplasia
  • precocious puberty with polyostotic fibrosis and abnormal pigmentation

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Summary
McCune-Albright syndrome (MAS) is an extremely rare disorder that classically affects the bones, skin, and endocrine system. MAS is characterized by fibrous dysplasia of bone that occurs with at least two additional findings – patches of abnormal skin pigmentation (i.e., areas of light-brown skin [cafe-au-lait spots] with jagged borders) and dysfunction of certain glands that regulate the body’s rate of growth, its sexual development, and certain other metabolic functions (multiple endocrine dysfunction). Fibrous dysplasia refers to bone that is replaced by abnormal scar-like (fibrous) connective tissue. This abnormal fibrous tissue weakens the bone, making it abnormally fragile and prone to fracture. Pain may occur in the affected areas. Malfunctioning endocrine glands can result in the development of secondary sexual characteristics at an age younger than normal (gonadotropin independent precocious puberty). MAS is the result of a genetic change (mutation) in the GNAS1 gene that occurs randomly, for no apparent reason (sporadic). In individuals with the disorder, this sporadic genetic mutation is present in only some of the body’s cells (mosaic pattern). The symptoms and physical characteristics associated with the disorder vary greatly from case to case, depending upon the specific body cells and tissues that are affected by the genetic mutation. This mutation occurs after fertilization (postzygotic somatic mutation). It is not inherited from the parents.

McCune Albright Syndrome Resources

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