[McCune-Albright syndrome: a case report and literature review]. / Syndrome de McCune-Albright : à propos d'un cas et revue de la littérature.
Pan Afr Med J
; 46: 33, 2023.
Article
in Fr
| MEDLINE
| ID: mdl-38145201
ABSTRACT
McCune-Albright syndrome is an inherited disease characterized by the association of fibrous dystrophy of bone, café-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 café-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. Bisphosphonates 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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Puberty, Precocious
/
Fibrous Dysplasia of Bone
/
Fibrous Dysplasia, Polyostotic
Limits:
Child
/
Female
/
Humans
Language:
Fr
Journal:
Pan Afr Med J
Year:
2023
Document type:
Article
Affiliation country: