Article ; Online: Caracterización clínica de pacientes chilenos con displasia fibrosa/síndrome de McCune-Albright.
2023 Volume 150, Issue 10, Page(s) 1275–1282
Abstract: Background: Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS) is characterized by a spectrum of manifestations that may include fibrous dysplasia of bone and multiple endocrinopathies.: Aim: To describe the clinical spectrum, the study and follow- ... ...
| Title translation | Clinical features of Chilean patients with Fibrous Dysplasia/McCune-Albright Syndrome. |
|---|---|
| Abstract | Background: Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS) is characterized by a spectrum of manifestations that may include fibrous dysplasia of bone and multiple endocrinopathies. Aim: To describe the clinical spectrum, the study and follow-up of patients with FD/MAS cared at our institution. Material and methods: Review of medical records of 12 pediatric and adult patients (11 women) who met the clinical and genetic diagnostic criteria for FD/ MAS. Results: The patients' mean age at diagnosis was 4.9 ± 5.5 years. The most common initial clinical manifestation was peripheral precocious puberty (PPP) in 67% of patients and 75% had café-au-lait spots. Fibrous dysplasia was present in 75% of patients and the mean age at diagnosis was 7.9 ± 4.7 years. Ten patients had a bone scintigraphy, with an age at the first examination that varied between 2 and 38 years of age. The most frequent location of dysplasia was craniofacial and appendicular. No patient had a recorded history of cholestasis, hepatitis, or pancreatitis. In four patients, a genetic study was performed that was positive for the pathogenic variant of guanine nucleotide binding protein, alpha stimulating (GNAS). Conclusions: These patients demonstrate the variable nature of the clinical presentation and study of FD/MAS. It is essential to increase the index of diagnostic suspicion and adherence to international recommendations. |
| MeSH term(s) | Adult ; Humans ; Child ; Female ; Child, Preschool ; Adolescent ; Young Adult ; Fibrous Dysplasia, Polyostotic/diagnostic imaging ; Fibrous Dysplasia, Polyostotic/genetics ; Chile/epidemiology ; Fibrous Dysplasia of Bone/diagnostic imaging ; Puberty, Precocious/etiology ; Puberty, Precocious/genetics ; Cafe-au-Lait Spots/genetics |
| Language | Spanish |
| Publishing date | 2023-06-26 |
| Publishing country | Chile |
| Document type | English Abstract ; Journal Article |
| ZDB-ID | 732136-3 |
| ISSN | 0717-6163 ; 0034-9887 |
| ISSN (online) | 0717-6163 |
| ISSN | 0034-9887 |
| DOI | 10.4067/S0034-98872022001001275 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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