de Sanctis C, Lala R, Matarazzo P, Balsamo A, Bergamaschi R, Cappa M, Cisternino M, de Sanctis V, Lucci M, Franzese A, Ghizzoni L, Pasquino A M, Segni M, Rigon F, Saggese G, Bertelloni S, Buzi F
Divisione di Endocrinologia Pediatrica, Ospedale Regina Margherita, Torino, Italy.
J Pediatr Endocrinol Metab. 1999 Nov-Dec;12(6):817-26. doi: 10.1515/jpem.1999.12.6.817.
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.
我们报告了32例McCune - Albright综合征患者的诊断性临床特征及其长期演变情况。患者数据由两个阶段组成：第一个阶段，归类为个人病史，从出生至做出McCune - Albright综合征诊断之时；第二个阶段，归类为临床观察，从首次观察至随访结束。这两个阶段的总时长为9.6±2.9年；首次观察时的平均年龄为5.7岁（范围0.7 - 11岁）。计算了根据年龄出现主要临床体征的概率：几乎所有患者出生时都有皮肤发育异常，4岁时女性外周性早熟的概率为50%，8岁时骨发育异常的概率为50%。即使没有进行特定的基因检测，在导致McCune - Albright综合征诊断的主要体征出现之前，其他临床体征也具有诊断相关性。最重要的临床表现有不同的演变过程：皮肤病变会随着身体生长而增大；女性性早熟发展迅速，但部分患者可见病情缓解期；大多数患者的骨发育异常会随着受累骨骼数量的增加和病变严重程度的加重而演变。
