McCune-Albright syndrome: A longitudinal clinical study of 32 patients

We report the diagnostic clinical features and their long term evolution in 32 patients with McCune-Albright syndrome. Patient data are made up of two periods: the first, classified as personal history, is from birth until th e time when the diagnosis of McCune-Albright syndrome was made; the second, classified as clinical observation, is from the first observation until th e end of follow up, The total duration of these two periods was 9.6 +/- 2.9 yr; mean age at first observation was 5.7 yr (range 0.7-11 yr), The probab ility of manifesting main clinical signs according to age was calculated: a lmost all had skin dysplasia at birth, 50% probability of peripheral precoc ious puberty in females at 4 years and 50% of bone dysplasia at 8 years of age were found, Other clinical signs had diagnostic relevance when precedin g the main signs leading to diagnosis of McCune-Albright syndrome even with out specific genetic investigation. The most important clinical manifestati ons have different evolutions: skin lesions increase in dimensions accordin g to body growth; precocious puberty in females evolves rapidly but periods of regression can be seen in some patients; bone dysplasia in most patient s evolves with an increase both in the number of affected bones and in the severity of lesions.