What syndrome is associated with fibrous dysplasia that causes "café au lait" spots?

• A. Marfan syndrome
• B. McCune-Albright syndrome
• C. Turner syndrome
• D. Achondroplasia

Answer: (B)

The syndrome associated with fibrous dysplasia and characterized by "café au lait" spots is McCune-Albright syndrome. This condition is a result of a mutation in the GNAS gene, leading to abnormal proliferation of osteoblastic cells, which results in fibrous dysplasia of bone.

Individuals with McCune-Albright syndrome often present with distinct skin manifestations, including multiple "café au lait" macules, which are pigmented skin lesions that have a light brown color resembling coffee with milk. This specific skin finding, along with skeletal abnormalities and potentially endocrine dysregulation (such as premature sexual maturation), are hallmark features of the syndrome.

The other listed syndromes do not exhibit this specific combination of symptoms. For example, Marfan syndrome is primarily characterized by features affecting connective tissue, including tall stature and long limbs, but does not typically involve fibrous dysplasia or "café au lait" spots. Turner syndrome is a condition affecting females characterized by the partial or complete absence of one X chromosome, with features such as short stature and characteristic neck and ear changes, but it does not relate to fibrous dysplasia and "café au lait" lesions. Achondroplasia primarily affects bone growth and leads to dwarfism