A patient presents with endocrinopathy, fibrous dysplasia of bone and Hyperpigmentation. Diagnosis-
Correct Answer: McCune Albright syndrome
Description: Polyostotic fibrous dysplasia ,hyper pigmentation and endocrinopathies are the features of McCune-Albright syndrome. It clinically presents as precocious sexual development , most commonly in girls.other endocrinopathies like hypehyroidism,pituitary adenomas may also be seen. Bone lesions are often unilateral. Cutaneous macules are classically large ;dark to cafe-au-lait in color;with irregular serpiginous borders.McCune-Albright syndrome is caused by mutations in the GNAS gene. A small number, but not all, of the person's cells contain this faulty gene (mosaicism). (Ref:ROBBINS Text book of pathology)
Category:
Pathology
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now