McCune-Albright syndrome: a Case Report

McCune-Albright syndrome (MAS) is a rare disease characterized by polyostotic fibrous dysplasia of bone, hyperpigmented skin lesions, and endocrinopathies, most commonly precocious puberty and especially in girls. We presented the case of a female patient aged 5 years hospitalized for pathological fracture of the right femur with findings of lytic lesions of the contralateral femur, pelvis, thorax, and calvarium, and cafe-au-lait spots of the anterior, perineal, and dorsolumbar thorax; Tanner stage 2 breasts and pubes, a history of vaginal bleeding on two occasions one month earlier, left-wrist X-ray compatible with a bone age of 9 years and pituitary microadenoma. MAS is caused by sporadic postzygotic somatic mutations of the gene that codifies the alpha subunit of the C(s) protein (GNAS1). This protein acts in the transduction of signals by binding with cyclic-adenosine-monophosphate (cAMP) producing adenylate cyclase. It is important to be aware of this group of associated signs in order to achieve early diagnosis and appropriate treatment.