Which syndrome is characterized by cafe-au-lait spots, polyostotic fibrous dysplasia, and precocious puberty?

Which syndrome is characterized by cafe-au-lait spots, polyostotic fibrous dysplasia, and precocious puberty?

• A. McCune-Albright syndrome
• B. Turner syndrome
• C. Metachromatic leukodystrophy
• D. Carney complex

Answer: (A)

McCune-Albright syndrome is characterized by a triad of clinical findings: cafe-au-lait spots, polyostotic fibrous dysplasia, and endocrine abnormalities, which often manifest as precocious puberty. The cafe-au-lait spots are typically seen as light brown skin lesions and are a hallmark feature of this syndrome. The polyostotic fibrous dysplasia involves the replacement of normal bone with fibrous tissue, leading to deformities and fractures. In addition to these features, patients with McCune-Albright syndrome may experience early activation of the hypothalamic-pituitary-gonadal axis, resulting in precocious puberty, particularly in females, which can include early breast development and menstruation. While other conditions like Turner syndrome, metachromatic leukodystrophy, and Carney complex have their own distinctive features, they do not present with this specific combination of symptoms. Turner syndrome is associated with short stature and gonadal dysgenesis but not with fibrous dysplasia or cafe-au-lait spots. Metachromatic leukodystrophy is a lysosomal storage disorder affecting the nervous system, and Carney complex primarily involves cardiac myxomas, skin spots, and endocrine tumors but does not include the classic triad seen

McCune-Albright syndrome is characterized by a triad of clinical findings: cafe-au-lait spots, polyostotic fibrous dysplasia, and endocrine abnormalities, which often manifest as precocious puberty. The cafe-au-lait spots are typically seen as light brown skin lesions and are a hallmark feature of this syndrome. The polyostotic fibrous dysplasia involves the replacement of normal bone with fibrous tissue, leading to deformities and fractures.

In addition to these features, patients with McCune-Albright syndrome may experience early activation of the hypothalamic-pituitary-gonadal axis, resulting in precocious puberty, particularly in females, which can include early breast development and menstruation.

While other conditions like Turner syndrome, metachromatic leukodystrophy, and Carney complex have their own distinctive features, they do not present with this specific combination of symptoms. Turner syndrome is associated with short stature and gonadal dysgenesis but not with fibrous dysplasia or cafe-au-lait spots. Metachromatic leukodystrophy is a lysosomal storage disorder affecting the nervous system, and Carney complex primarily involves cardiac myxomas, skin spots, and endocrine tumors but does not include the classic triad seen