Albright syndrome
Last Updated: 2023-07-07
Author(s): Anzengruber F., Navarini A.
ICD11: -
Last Updated: 2023-07-07
Author(s): Anzengruber F., Navarini A.
ICD11: -
McCune 1936
Albright 1937
Polyostotic fibrous dysplasia
Genodermatosis, which is defined by the triad: café au lait spots, pubertas praecox and fibrous dysplasia.
Postzygotic mutation of the GNAS11 gene.
Sharply defined, irregular (Coast of Maine), brownish macules, following Blaschko lines.
Pubertas praecox.
Fibrous dysplasia (predisposition to fractures)
Frequent endocrinological abnormalities
Anamnesis (e.g. bone fractures)
Clinical
Genetic analysis.
Endocrinological consultation.