McCune-Albright Syndrome

A ten-year-old female presented to our dermatology clinic with her mother, our patient, at which time we incidentally noted a large light brown patch on the daughter's cheek (shown above). The girl was a fifth grader in elementary school. On physical exam, a large brown smooth patch with jagged borders consistent with a caféau-lait patch was noted on the right cheek. The lesion was present since birth, was asymptomatic, and had grown in proportion with her growth overtime. The girl noted a history of early menses beginning at the age of two for which she follows with endocrinology. She noticed breast enlargement at the age of seven years old. She also noted a history of multiple bone fractures, most recently of the femur after falling in the yard. Musculoskeletal exam revealed asymmetric limb length with the left leg longer than the right. She was ambulating on crutches after fracturing her femur in a fall. Breast exam revealed large breasts relative to height and age. The remainder of the physical exam was non-contributory. DISCUSSION Given the clinical manifestations, the patient was diagnosed with McCune Albright Syndrome (MAS), a genetic syndrome characterized by the clinical triad of polyostotic fibrous dysplasia, endocrine

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McCune-Albright Syndrome

2018

Imaging in Otolaryngology

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A ten-year-old female presented to our dermatology clinic with her mother, our patient, at which time we incidentally noted a large light brown patch on the daughter's cheek (shown above). The girl was a fifth grader in elementary school. On physical exam, a large brown smooth patch with jagged borders consistent with a caféau-lait patch was noted on the right cheek. The lesion was present since birth, was asymptomatic, and had grown in proportion with her growth overtime.The girl noted a history of early menses beginning at the age of two for which she follows with endocrinology. She noticed breast enlargement at the age of seven years old. She also noted a history of multiple bone fractures, most recently of the femur after falling in the yard. Musculoskeletal exam revealed asymmetric limb length with the left leg longer than the right. She was ambulating on crutches after fracturing her femur in a fall. Breast exam revealed large breasts relative to height and age. The remainder of the physical exam was non-contributory. DISCUSSIONGiven the clinical manifestations, the patient was diagnosed with McCune Albright Syndrome (MAS), a genetic syndrome characterized by the clinical triad of polyostotic fibrous dysplasia, endocrine

show abstract

McCune-Albright Syndrome

Cited by 3 publications

References 9 publications

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McCune-Albright Syndrome

McCune-Albright Syndrome

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