McCune Albright Syndrome: Epidermal Nevus Syndrome

Herman and Siegel examine the case a 6-year-old boy with left testicular enlargement. The sonogram demonstrated left macroorchidism with heterogeneously mixed echogenicity of the testes bilaterally without focal mass. The skeletal survey demonstrated ground glass osseous lesions in the axial skeleton and a sclerotic cranial lesion consistent with polyostotic fibrous dysplasia. In addition, the bone age was advanced at 8 years, when the chronological age was 6 years. The testicular biopsy revealed Sertoli cell proliferation. Given the presence of polyostotic fibrous dysplasia, elevated growth hormone and testicular enlargement with Sertoli cell hyperplasia, a diagnosis of McCune Albright syndrome was made. The presence of the epidermal nevus as well as the aforementioned skeletal changes of fibrous dysplasia and pituitary abnormality with excess growth hormone also allowed a diagnosis of epidermal nevus syndrome.