McCune-Albright syndrome

Abstract

McCune-Albright syndrome (MAS) is a very rare disease characterizedby the triad of bone defects, skin hyperpigmentation, andvarious types of endocrine and non-endocrine manifestations. Itfalls into the category of sporadic genetic disorders and its exactincidence is unknown. In its more severe forms, the disease manifestsitself already in early childhood and can gradually affectmore and more organs throughout life. The extent and degree ofinvolvement of affected tissues are heterogeneous due to themosaicism of the genetic mutation. The disease is the subject ofextensive research and new pathogenetic mechanisms are beingelucidated, leading to new diagnostic and therapeutic choices. Inaddition, the authors present a case report of an adult femalepatient with McCune-Albright syndrome. The clinical picture isdominated by bone involvement, thyroid hyperfunction and persistenthyperestrogenism. The case report underlines the fact thatmanagement of patients with McCune-Albright syndrome continuesto be a challenge.

Keywords

• zespół McCune’a-Albrighta
• białko G
• postać poliostotyczna dysplazji włóknistej kości
• autonomiczna nadczynność gruczołów wydzielania wewnętrznego
• plamy typu café-au-lait