Albright Syndrome Treatment & Management

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

Medical Care

Medical treatment for McCune-Albright syndrome (MAS) is only partially effective and transsphenoidal surgery remains difficult secondary to massive thickening of the skull base. Radiotherapy is contraindicated because of the possibility of sarcomatous transformation.[24] Their puberty does not generally respond to gonadotropic-releasing hormone agonists, and short-acting aromatase inhibitors have had limited effectiveness. Bromocriptine, cabergoline, and octreotide or a combination of these has demonstrated inconsistent results; pegvisomant, a GH receptor antagonist, is a possibility, although it has not yet been used as a treatment for MAS with GH pathology.[24] Note the following:

  • Diagnosis and treatment require a high index of suspicion in any patient with characteristic CALMs and endocrine dysfunction or pathologic fractures.
  • Address symptomatic hyperthyroidism with supportive care such as oral or intravenous iodine, antithyroid agents, propranolol, and dexamethasone.
  • Address metabolic acidosis by correcting the underlying endocrine disorder and providing supportive care.
  • One study found that long-term bisphosphonate treatment had beneficial effects on the bone health of patients with MAS; the fracture rate and bone pain were reduced and radiological evidence of long bone pathology resolution was observed.[29] One other study suggested bisphosphonate may be helpful.[30] However, another report described that bisphosphonate treatment of PFD in children with MAS did not arrest progressive bone pathology.[31]
  • Despite disappointing results in other trials, one study indicated gonadotropin-releasing hormone analogue therapy for children has had some success in girls with MAS.[32]
  • The third-generation aromatase inhibitor letrozole has had some success.[33]
  • Combined treatment with ketoconazole and cyproterone acetate in a boy with MAS and peripheral precocious puberty was used in one report, with some positive effect.[34]
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Surgical Care

Ovarian cysts occur frequently in females with PPP with MAS.[35] Surgery remains an option for the evaluation and treatment of cysts.

Laparoscopy minimizes surgical aggression and allows for the acquisition of tissue biopsy specimens for molecular analysis. Additionally, hyperestrogenism can be arrested with the excision of hyperactive ovarian tissue. In girls younger than 3 years, laparoscopy can be performed using the transumbilical laparoscopic ovarian cystectomy approach. In older females, traditional techniques are used.

The need for excision of hyperfunctional endocrine tissue is directed by the severity of the patient's endocrine imbalance and the efficacy of medical treatment.

En bloc resection and free metatarsal transfer have been used to treat fibrous dysplasia of the fourth metacarpal associated with MAS.[36]

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Consultations

Endocrinologist consultation is indicated because patients may have multiple endocrine defects, which may require careful orchestration of treatment. Orthopedist consultation is indicated for pathologic fractures.

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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.

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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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