McCune-Albright syndrome: a case report and literature review

被引：0

作者：

Chabouni, Hedi ^{[1
,2
]}

Ben Jemaa, Mohamed ^{[1
,2
]}

Ghorbel, Mohamed ^{[1
,2
]}

Trigui, Moez ^{[1
,2
]}

Zribi, Wassim ^{[1
,2
]}

Zribi, Mohamed ^{[1
,2
]}

Ayadi, Kamel ^{[1
,2
]}

Aoui, Mourad ^{[1
,2
]}

Keskes, Hassib ^{[1
,2
]}

机构：

[1] Ctr Hosp Univ Habib Bourguiba Sfax, Serv Chirurg Orthoped & Traumatol, Sfax, Tunisia

[2] Fac Med Sfax, Sfax, Tunisia

来源：

PAN AFRICAN MEDICAL JOURNAL | 2023年 / 46卷

关键词：

Fibrous dystrophy; cafe au lait task; precocious puberty; mutation; case report; ACTIVATING MUTATIONS;

D O I：

10.11604/pamj.2023.46.33.35274

中图分类号：

R1 [预防医学、卫生学];

学科分类号：

1004 ; 120402 ;

摘要：

McCune-Albright syndrome (MAS) is an inherited disease characterized by the association of fibrous dystrophy of bone, cafe-au-lait skin spots and precocious puberty revealing endocrine hyperactivity. Genetically, this disease is due to a mutation of the Gs protein responsible for activation of adenylate cyclase with excessive production of cAMP. The particular morphology of cafe-au-lait spots should suggest early diagnosis. Its treatment depends on the endocrinopathy from which the patient suffers and the extent of the fibrous dysplasia. Bisphophonates have proven their effectiveness on bone pain and the limitation of fibrous dysplasia. Surgery retains its place in complicated forms. We report a rare case of McCune-Albright syndrome complicated by a femur fracture in a 12-year-old girl and we discuss the clinical and paraclinical characteristics of this pathological entity.

引用

页数：7

共 10 条

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