McCune-Albright syndrome
McCune-Albright syndrome (MAS) (also known as McCune-Albright-Sternberg syndrome) is a genetic disorder characterized by the association of:
- endocrinopathy: precocious puberty
- polyostotic fibrous dysplasia: more severe than in sporadic cases
- cutaneous pigmentation: coast of Maine 'café au lait' spots
Clinical presentation
Presentation is variable :
- leg pain, limp, pathological fracture: ~ 75%
- abnormal vaginal bleeding: ~25%
- coast of Maine café au lait spots
- predominantly on posterior trunk: ~40% (range 30-50%)
- often ipsilateral to bone lesions
- irregular borders
- hypercortisolism (Cushing syndrome): ~7%
Pathology
Genetics
MAS results from a sporadically occurring somatic GNAS gene mutation .
History and etymology
The condition is named after:
- Fuller Albright (1900-1969), an American endocrinologist
- Donovan James McCune (1902-1976), an American pediatrician
- Carl Sternberg (1872-1935), an Austrian pathologist
Radiographic features
Role of imaging in MAS is predominantly to identify and define fibrous dysplasia (refer to the article for specific features). It is also complementary in identifying related endocrinological conditions.
See also
Siehe auch:
- Fibröse Dysplasie
- intraduktale papillär muzinöse Neoplasie
- cafe-au-lait spots
- polyostotische fibröse Dysplasie
- Mazabraud-Syndrom
- list of conditions associated with café au lait macules
- list of radiographic findings associated with cutaneous conditions
und weiter:
