McCune albright syndrome with severe facial disfigurement

Introduction: McCune Albright syndrome (MAS) is a rare disease due to post zygotic somatic activating mutation in the Gs protein. It includes skin patches, bone dysplasia, and hyperfunctioning endocrinopathies. Our objective is to report an unusual disfiguring form with precocious pseudo puberty (PPP), and hot thyroid nodule. Case report: A 19 year-old girl was hospitalized for the first time at the age of 5.5 years for breast development and vaginal bleeding which began when she was 6 months old. The diagnosis was PPP due to MAS. In addition to ovarian hyperfunction, there were multifocal disfiguring bone dysplasia, and brown skin patches. As aromatase inhibitors were not available, she was treated by cyproterone acetate, which was efficient on the ovarian function, but not on bone maturation (final height: 1.35m, bone deformities, and recurrent fractures). Fortunately, bone dysplasia was stabilized under biphosphonates. But, ovarian hyper functioning relapsed, because of polycystic ovaries. Following that, a hot thyroid nodule with normal thyroid function appeared. Conclusion: This patient has MAS with severe bone dysplasia leading to a disfiguring face, hot thyroid nodule, and ovarian hyper function causing PPP then polycystic ovaries. So, in future checking for tumours development due to estrogens excess is mandatory.

Angaben zum Objekt

• Standort: Deutsche Nationalbibliothek Frankfurt am Main
• Umfang: Online-Ressource
• Sprache: Englisch

Verweise und Beziehungen

• Erschienen in: McCune albright syndrome with severe facial disfigurement ; volume:05 ; number:03 ; year:2013 ; pages:157-161 ; Ibnosina journal of medicine and biomedical sciences ; 05, Heft 03 (2013), 157-161

Beteiligte, Orts- und Zeitangaben

• Beteiligte Personen und Organisationen: Chentli, Farida ; Zentar, Yamina ; Fedala, Nora ; Azzoug, Said

Weitere Informationen

• DOI: 10.4103/1947-489X.210539
• URN: urn:nbn:de:101:1-2022101002325826187746
• Rechteinformation: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
• Letzte Aktualisierung: 15.08.2025, 07:36 MESZ