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Diseases

Genetic and Rare Diseases Information Center (GARD)

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McCune Albright syndrome

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Other Names for this Disease

  • Albright syndrome
  • Albright's disease
  • MAS
  • PFD
  • POFD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of McCune Albright syndrome?

People with McCune Albright syndrome (MAS) may have symptoms related to bones, the endocrine system, and/or skin. The symptoms can range from mild to severe.[1]

Bone symptoms may include:
  • Polyostotic fibrous dysplasia: This is when normal bone is replaced by softer, fibrous tissue.[1] Polyostotic means the abnormal areas may occur in many bones; often they are confined to one side of the body.[2] Replacement of bone with fibrous tissue may lead to fractures, uneven growth, and deformity.[2][1] When it occurs in skull and jaw it can result in uneven growth of the face. This may also occur in the long bones; uneven growth of leg bones may cause limping.[2]
  • Abnormal curvature of the spine (scoliosis)[2]
  • Cancer: Bone lesions may become cancerous, but this happens in less than 1% of people with MAS.[2]

Endocrine symptoms may include:

  • Early puberty: Girls with MAS usually reach puberty early. They often have menstrual bleeding by age 2 (as early as 4-6 months in some), many years before characteristics such as breast enlargement and pubic hair growth are evident.[2][3][1] This early onset of menstruation is believed to be caused by excess estrogen, a female sex hormone produced by cysts that develop in one of the ovaries.[2] Less commonly, boys with MAS may also experience early puberty.[2][3][1]
  • Enlarged thyroid gland: The thyroid gland may become enlarged (a condition called a goiter) or develop masses called nodules. About half of affected individuals produce excessive amounts of thyroid hormone (hyperthyroidism), resulting in a fast heart rate, high blood pressure, weight loss, tremors, sweating, and other symptoms.[2][1]
  • Increased production of growth hormone: The pituitary gland may produce too much growth hormone. This can result in acromegaly, a condition characterized by large hands and feet, arthritis, and distinctive facial features that are often described as "coarse."[2][1]
  • Cushing’s syndrome: Rarely, individuals with MAS produce too much of the hormone cortisol in the adrenal glands. Cushing's syndrome causes weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems.[2][1]

Skin symptoms may include:

  • Cafe-au-lait spots: Individuals with MAS usually have light brown patches of skin called cafe-au-lait spots.[2][1] Like the bone lesions, these spots often appear on only one side of the body.[2] Most children have these spots from birth and the spots rarely grow. There are usually not any medical problems caused by these skin changes.[1]
Last updated: 12/26/2013

References
  1. McCune-Albright Syndrome. National Institute of Child Health and Human Development (NICHD). 2013; http://www.nichd.nih.gov/health/topics/mccune-albright/Pages/default.aspx. Accessed 10/17/2013.
  2. McCune-Albright syndrome. Genetics Home Reference (GHR). January 2009; http://ghr.nlm.nih.gov/condition=mccunealbrightsyndrome. Accessed 10/17/2013.
  3. Haldeman-Englert C. McCune-Albright syndrome. MedlinePlus. 2012; http://www.nlm.nih.gov/medlineplus/ency/article/001217.htm. Accessed 10/17/2013.


Other Names for this Disease
  • Albright syndrome
  • Albright's disease
  • MAS
  • PFD
  • POFD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.