[McCune-Albright syndrome: a difficult and complicated case study].
McCune-Albright syndrome is a rare G proteins alpha disorder. The disorder is characterized by polyostotic fibrous dysplasia, sexual precocity and hyperpigmented macules. It is caused due to mutations in the gene Gsalpha that incodes the alpha subunit of the trimeric guanosine triphate-binding protein. There is no specific treatment for this syndrome. Treatment is generally symptomatic. This paper reported three cases of McCune-Albright syndrome and reviewed the relevant literatures regarding to the pathogenesis, pathological features, diagnosis and treatment. All three cases presented with a characteristic triad: polyostotic fibrous dysplasia, sexual precocity and hyperpigmented macules and were thus definitely diagnosed with McCune-Albright syndrome.
Liang
Li-Yang
LY
Department of Pediatrics, Second Affiliated Hospital of Sun Yat-sen University, Guangzhou 510120, China. doctorlly@yahoo.com.cn
Meng
Zhe
Z
Zeng
Qiao-Hui
QH
Li
Wen-Yi
WY
D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D005359:Fibrous Dysplasia, Polyostotic / Q000175:diagnosis* / Q000209:etiology / Q000473:pathology / Q000628:therapy; D006801:Humans; D011379:Prognosis