Franco Jéferson Martins Pereira Lucena, Rêgo Roberto Dias, Gomes George Matos Ferreira, Santos Daniel Facó da Silveira, Santos Eliardo Silveira
Department of Oral and Maxillofacial Surgery, Hospital Geral de Fortaleza-HGF, University of Fortaleza, Fortaleza, Brazil.
J Craniofac Surg. 2019 Sep;30(6):1806-1808. doi: 10.1097/SCS.0000000000005498.
The McCune-Albright syndrome (MAS) is a complex congenital disorder caused by the embryonic post-zygotic somatic activating mutations in the GNAS1 gene. In such syndrome, phenotypes are heterogeneous and comprised polyostotic/monostotic fibrous dysplasia, café au lait macules, and hyperfunctioning endocrinopathies as the excess growth hormone. Likewise, acromegaly, as a manifestation of the endocrine hyperfunction, is unusual and affects about 20% of patients with MAS.
This research study describes a case of a 31-year-old female subject presenting polyostotic fibrous dysplasia with severe facial involvement, along with acromegaly and the MAS. The case was satisfactorily managed by surgical re-alignment and presented no clinical signs of relapse in a 12-year follow-up period. Finally, a literature review was conducted to discuss the standard protocols and the controversies when treating such cases.
Patients with craniomaxillofacial fibrous dysplasia associated with acromegaly may present significant facial deformities that can be satisfactorily treated by cosmetic treatment, especially in patients with psychological problems and severe social acceptance.
McCune-Albright综合征（MAS）是一种复杂的先天性疾病，由GNAS1基因的胚胎期合子后体细胞激活突变引起。在这种综合征中，表型具有异质性，包括多骨/单骨纤维发育不良、咖啡牛奶斑和内分泌功能亢进，如生长激素过多。同样，肢端肥大症作为内分泌功能亢进的一种表现，并不常见，约20%的MAS患者会出现。
本研究描述了一名31岁女性患者的病例，该患者患有多骨纤维发育不良并伴有严重面部受累，同时患有肢端肥大症和MAS。该病例通过手术重新复位得到了满意的治疗，在12年的随访期内未出现复发的临床迹象。最后，进行了文献综述，以讨论治疗此类病例的标准方案和争议。
伴有肢端肥大症的颅颌面纤维发育不良患者可能会出现明显的面部畸形，通过美容治疗可以得到满意的治疗效果，尤其是对于有心理问题和严重社会接受度问题的患者。
