McCune-Albright syndrome
2008
Understanding McCune-Albright Syndrome
publication
Evidence: moderate
Author Information
Author(s): Dumitrescu Claudia E, Collins Michael T
Primary Institution: National Institute of Dental and Craniofacial Research, National Institutes of Health
Conclusion
McCune-Albright syndrome is a rare condition characterized by fibrous dysplasia of bone, café-au-lait spots, and precocious puberty, with various associated endocrinopathies.
Supporting Evidence
- McCune-Albright syndrome is defined by a triad of fibrous dysplasia, café-au-lait spots, and precocious puberty.
- Renal phosphate wasting is seen in approximately 50% of patients with McCune-Albright syndrome.
- Malignant transformation of fibrous dysplasia lesions occurs in less than 1% of cases.
Takeaway
McCune-Albright syndrome is a rare disease that can cause bone problems, skin spots, and early puberty in kids.
Methodology
The diagnosis of McCune-Albright syndrome is primarily clinical, often confirmed through radiographs and sometimes genetic testing.
Limitations
Genetic testing is not routinely available and may not significantly impact management.
Digital Object Identifier (DOI)
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