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 the time when the diagnosis of McCune-Albright syndrome was made; the second, classified as clinical observation, is from the first observation until the 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 probability of manifesting main clinical signs according to age was calculated: almost all had skin dysplasia at birth, 50% probability of peripheral precocious 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 preceding the main signs leading to diagnosis of McCune-Albright syndrome even without specific genetic investigation. The most important clinical manifestations have different evolutions: skin lesions increase in dimensions according to body growth; precocious puberty in females evolves rapidly but periods of regression can be seen in some patients; bone dysplasia in most patients evolves with an increase both in the number of affected bones and in the severity of lesions.
de Sanctis
C
C
Divisione di Endocrinologia Pediatrica, Ospedale Regina Margherita, Torino, Italy.
Lala
R
R
Matarazzo
P
P
Balsamo
A
A
Bergamaschi
R
R
Cappa
M
M
Cisternino
M
M
de Sanctis
V
V
Lucci
M
M
Franzese
A
A
Ghizzoni
L
L
Pasquino
A M
AM
Segni
M
M
Rigon
F
F
Saggese
G
G
Bertelloni
S
S
Buzi
F
F
D002648:Child; D002675:Child, Preschool; D005260:Female; D005359:Fibrous Dysplasia, Polyostotic / Q000175:diagnosis / Q000473:pathology*; D006801:Humans; D007223:Infant; D008137:Longitudinal Studies; D008297:Male