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Pathology Endocrinology 2d9f028c

A patient presents with endocrinopathy, fibrous dysplasia of bone and Hyperpigmentation. Diagnosis-

A
McCune Albright syndrome
B
Addison's disease
C
Alagille syndrome
D
Lynch syndrome
High-Yield Explanation
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)

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