Estudio clínico-molecular de pacientes chilenas con síndrome de McCune-Albright

R, Rossana Román; D, Ethel Codner; O, Andreína Cattani; B, Hernán García; Mericq, Verónica; S, Angélica Boric; O, Mónica Muñoz; S, Ruth Schneider; G, Fernando Cassorla

doi:10.4067/s0034-98872001001200001

Cited by 4 publications

(2 citation statements)

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“…El 48% de los pacientes tendrá un estudio molecular positivo en este tejido si presentan la tríada clásica 26 . Una serie nacional, publicada en 2001, describe una variante patogénica en leucocitos en 71% de las pacientes con dos o más signos clínicos de DF/SMA 27 . En nuestra serie, 33,3% tenía estudio genético y en todos resultó positivo, destacando el paciente #2 que presentaba estudio en leucocitos con resultado negativo.…”

Section: Discussionunclassified

Caracterización clínica de pacientes chilenos con displasia fibrosa/síndrome de McCune-Albright

Jiménez

Schneider²,

Baudrand

et al. 2022

Rev. méd. Chile

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Clinical features of Chilean patients with Fibrous Dysplasia/McCune-Albright SyndromeBackground: 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.

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Section: Discussionunclassified

Caracterización clínica de pacientes chilenos con displasia fibrosa/síndrome de McCune-Albright

Jiménez

Schneider²,

Baudrand

et al. 2022

Rev. méd. Chile

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“…Es más frecuente en el sexo femenino, alrededor de la segunda década de la vida 3,5 ; existiendo dos formas clínicas: la displasia monostótica, que compromete un sólo hueso y constituye el 80% de los casos, y la poliostótica que compromete más de un hueso [1][2][3][4][5]7,8 . La forma poliostótica presenta un subtipo, el síndro-me de McCune-Albright, que se caracteriza por la tríada de pubertad precoz periférica, manchas cutá-neas café con leche de bordes irregulares y displasia poliostótica [1][2][3][4]8,9 .…”

Section: Introductionunclassified

Displasia osteofibrosa de cornete inferior: causa inusual de obstrucción nasal

et al. 2007

Rev. Otorrinolaringol. Cir. Cabeza Cuello

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RESUMENLa displasia osteofibrosa es una patología ósea benigna e idiopática, poco frecuente en cabeza y cuello. Afecta principalmente el hueso maxilar, mientras en fosa nasal su frecuencia es baja. Habitualmente asintomática, puede ser agresiva por crecimiento local y eventual malignización. El tratamiento es quirúrgico cuando produce alteraciones en la estética facial, síntomas compresivos orbitarios, rinosinusales, vasculares, nerviosos o ante sospecha de malignización. Se presenta un caso de un paciente con obstrucción nasal persistente, en cuya evaluación se diagnostica un tumor óseo de cornete inferior, que es extirpado mediante técnica endoscópica, con resultado satisfactorio. El estudio histopatológico confirmó el diagnóstico de displasia osteofibrosa. Se discuten los problemas diagnósticos y terapéuti-cos, destacando la importancia del examen físico y el diagnóstico oportuno, pudiendo tratarse endoscópicamente sin inconvenientes cuando son pequeños.Palabras clave: Displasia osteofibrosa, Cornete inferior, Tumores benignos de cabeza y cuello. ABSTRACTFibrous dysplasia is an idiopathic benign bone disease, infrequent in head and neck. It is mainly located in the maxillary bone, while its nasal cavity frequency is low. It is usually asymptomatic, but it can be aggressive due to local growth and malignant degeneration. Its treatment is surgical when the disease produces an important facial deformity, orbital, rhinosinusal or vascular-nervous compressive symptoms or when malignization is suspected. A case report of a patient with persistent nasal obstruction is presented. Upon evaluation, a bony tumor of the inferior turbinate was diagnosed. Excision was performed using endoscopic technique, with satisfactory clinical results. Histopathological examination confirmed the diagnosis of fibrous dysplasia. We emphasize the importance of the otolaryngology physical examination and the early diagnosis in order to offer the more adequate treatment when lesions are small, so as to be able to perform an endoscopic surgery without potential disadvantages.

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