Albright Syndrome Clinical Presentation

  • Author: Noah S Scheinfeld, MD, JD, FAAD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Sep 21, 2011
 

History

Patients with MAS can present with a variety of bone, skin, and endocrine pathology. Note the following:

  • Premature pubertal changes occur, including premature pubarche (the beginning of growth of pubic hair), thelarche (the beginning of breast development), and menarche. Average age is 4.9 years, with a female predominance.
  • Pathologic fractures and bone pain occur at sites of PFD.
  • CALMs are often noted at birth.
  • A wide variety of endocrine symptoms are noted, including metabolic acidosis and abnormal electrolyte, insulin, and/or glucose levels.
  • Patients do not have a family history of MAS.
  • Developmental abnormalities and associated problems may include failure to thrive, developmental delay, microcephaly, and neonatal jaundice.
  • Pregnant women with MAS have accelerated bone turnover with potential complications involving the bone.[7]
  • A persistence of autonomous ovarian hyperfunction may occur in females with MAS during adolescence and early adult age.[8]
  • Hepatobiliary dysfunction and cardiac disease are likely important risk factors for early death in patients with MAS.[9]
  • Albright hereditary osteodystrophy, a syndrome distinct from MAS, is associated with pseudohypoparathyroidism.[10]
  • A 52-year-old man has been described as having a limited form of MAS. He had PFD, acromegaly resulting from a pituitary tumor, and subclinical hyperthyroidism resulting from a toxic multinodular goiter. He did not have a history of sexual precocity, nor did he have CALMs on his skin.[11]
  • Leet et al[12] at the US National Institutes of Health report that in children with PFD, loss of a normal femoral neck-shaft angle and the lower extremity disease burden cause the maximum impact on functional activity based on the Pediatric Outcomes Data Collection Instrument tool.
  • Fibrous dysplasia protuberans is a type of benign fibroosseous exophytic mass originating in the intramedullary cavity of an adjacent bone, and this was reported as an exudative pleural effusion in a 49-year-old man with MAS.[13]
  • MAS reportedly is associated with acromegaly and bipolar affective disorder.[14]
  • Restrictive lung disease and cor pulmonale secondary to polyostotic fibrous dysplasia has been reported in MAS patients.[15]
  • Bhat et al[16] noted hyperthyroidism associated with MAS.
  • Sudden infant death syndrome and activating GNAS1 gene mutations are described in association with MAS.[17]
  • Platelet dysfunction and increased bleeding tendency have been reported in MAS.[18]
  • Expansion of the mandible with radiopaque-radiolucent areas with ground-glass radiographic appearance has also been reported in MAS.[19]
  • Severe arterial hypertension can be a complication of MAS.[20]
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Physical

Hyperpigmented patches, which roughly follow the lines of Blaschko, are located most commonly on the buttocks and lumbosacral back. The patches are large, are few in number, and have irregular borders resembling the coast of the US state of Maine, as shown in the image below. This is in contrast to the CALMs of neurofibromatosis, which have a smooth border resembling the coast of the US state of California. The CALMs are usually on the same side of the body as the skeletal lesions and respect the midline. They may be bilateral.

Large café au lait patches around the shoulder in Large café au lait patches around the shoulder in a child with McCune-Albright syndrome.

Signs of sexual precocity (98% of cases) include pubarche, menarche, and thelarche. Precocious puberty is found much more commonly in girls than in boys (9:1 female-to-male ratio).

The following are other signs of endocrine dysfunction:

  • Thyroid storm (particularly during general anesthesia), tachyarrhythmia, and fever
  • Cushingoid habitus
  • Acromegaly
  • Hirsutism
  • Galactorrhea

Skeletal deformities include recurrent fractures, limb bowing, and length discrepancies.

Testis enlargement (macroorchidism) occurs in males with MAS. It is usually bilateral and occurs against a context of sexual precocity. However, the enlargement is not always bilateral. A 4.6-year-old boy with unilateral macroorchidism without sexual precocity or other MAS pathology has been described.[21]

In 2007, Medow et al described polyostotic fibrous dysplasia of the cervical spine as a finding of MAS.[22]

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Causes

MAS is caused by a sporadic, early postzygotic somatic mutation in the GNAS1 gene at locus 20q13.1-13.2, coding for G protein subunit, Gs-alpha.

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Contributor Information and Disclosures
Author

Noah S Scheinfeld, MD, JD, FAAD  Assistant Clinical Professor, Department of Dermatology, Columbia University College of Physicians and Surgeons; Consulting Staff, Department of Dermatology, St Luke's Roosevelt Hospital Center, Beth Israel Medical Center, and New York Eye and Ear Infirmary; Private Practice

Noah S Scheinfeld, MD, JD, FAAD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Optigenex Consulting fee Independent contractor

Specialty Editor Board

Eleanor E Sahn, MD  Director, Division of Pediatric Dermatology, Associate Professor, Departments of Dermatology and Pediatrics, Medical University of South Carolina

Eleanor E Sahn, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, and Southern Medical Association

Disclosure: Nothing to disclose.

Richard P Vinson, MD  Assistant Clinical Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Consulting Staff, Mountain View Dermatology, PA

Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Association of Military Dermatologists, Texas Dermatological Society, and Texas Medical Association

Disclosure: Nothing to disclose.

Van Perry, MD  Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas School of Medicine at San Antonio

Van Perry, MD is a member of the following medical societies: American Academy of Dermatology and American Society for Laser Medicine and Surgery

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

The authors and editors of eMedicine gratefully acknowledge the contributions of previous author, D. Stanton Whittaker Jr, MD, to the development and writing of this article.

References

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Large café au lait patches around the shoulder in a child with McCune-Albright syndrome.
Lucency characteristic of polyostotic fibrous dysplasia in a patient with McCune-Albright syndrome.
 
 
 
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