A rare subtype of McCune-Albright syndrome in a 5.4 years old girl: a case report and review of the literature

Abstract

Abstract Background McCune–Albright syndrome (MAS) is a rare sporadic disease Characterized by café-au-lait lesions and hyperfunctional endocrinopathies and bone fibrous dysplasia with estimated prevalence ranges between 1/100,000 and 1/1,000,000. This subtype of McCune-Albright is very rare and forms 1% of the of all cases.Case presentation We present an atypical case of McCune–Albright syndrome missing fibrous dysplasia in a 5.4 years old girl that manifest with recurrent vaginal bleeding, initially diagnosed as precocious puberty. On clinical examination large skin pigmentation was noted on the back, X-ray revealed no radiolucent lesions in numerous bones which excludes Polyostotic fibrous dysplasia and makes the diagnosis dependent on the other 2 out of 3 features: Café-au-lait skin pigmentation and Autonomous endocrine hyperfunction (which represented in this case as a precocious puberty). The patient was treated successfully with letrozole and after 5 months of follow-up, she stopped having vaginal bleeding.Conclusions McCune-Albright syndrome can presents without fibrous dysplasia and the physician must be able to detect the syndrome in cases of vaginal bleeding and café-au-lait spots in young females. Additionally following-up and surveillance are necessary to detect other manifestations of the syndrome that might appear subsequently.