RESUMEN
Mutations in the gene that encodes Fibroblast Growth Factor Receptor 3 (FGFR3) are associated with Achondroplasia (MIM 100800), Hypochondroplasia (MIM 146000), Muenke Syndrome (MIM 602849), Thanatophoric Dysplasia (MIM 187600, MIM 187601) and Lacrimo-Auriculo-Dento-Digital Syndrome (MIM 149730).Here we report a clinical and molecular study in a large cohort of 125 Portuguese patients with these skeletal disorders. The identification of the P250R mutation allowed the confirmation of the Muenke Syndrome in 9 out of the 52 cases referred. Two known mutations were found in the Thanatophoric Dysplasia referred cases. No mutations were identified in the LADD syndrome patient. In Achondroplasia and Hypochondroplasia, genetic heterogeneity was present amongst the 70 clinically diagnosed patients with 5 different mutations identified. As in other studies, complex phenotypic heterogeneity amongst patients carrying the same gene defect was observed. In several cases, the new amino acids encoded, as a consequence of mutations, were related to the severity of patients' phenotype. The presence of 10 misdiagnosed cases emphasizes the importance of performing mutation analysis of the hotspot regions responsible for both dysplasias (Ach and Hch). For patients with an unquestionable clinical diagnosis, lacking the most common mutations, a complete screening of FGFR3 is necessary.
Asunto(s)
Anomalías Musculoesqueléticas/diagnóstico , Anomalías Musculoesqueléticas/genética , Mutación , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/genética , Receptor Tipo 3 de Factor de Crecimiento de Fibroblastos/genética , Acondroplasia/diagnóstico , Acondroplasia/genética , Adolescente , Adulto , Anciano , Preescolar , Estudios de Cohortes , Femenino , Humanos , Masculino , Persona de Mediana Edad , Fenotipo , Portugal , Displasia Tanatofórica/diagnóstico , Displasia Tanatofórica/genéticaRESUMEN
The authors report a huge lymphangioma of the tongue in a sixty-seven years old female patient. The remarkable progression in dimensions of this lesion, leading to the inevitable protrusion of the tongue, led to the realization of an extended glossectomy, with a functional objective in mind. This simple procedure showed an excellent five years follow-up results. From this case report, the authors stress up on the etiopathogenic, pathological, clinical as well as therapeutic aspects of lingual lymphangioma.
Asunto(s)
Linfangioma/patología , Neoplasias de la Lengua/patología , Anciano , Progresión de la Enfermedad , Femenino , Estudios de Seguimiento , Glosectomía , Humanos , Linfangioma/cirugía , Macroglosia/patología , Macroglosia/cirugía , Neoplasias de la Lengua/cirugía , Resultado del TratamientoAsunto(s)
Malformaciones Arteriovenosas/complicaciones , Hemangioma Cavernoso/irrigación sanguínea , Hemangioma Cavernoso/etiología , Mandíbula/irrigación sanguínea , Neoplasias Mandibulares/irrigación sanguínea , Arteria Maxilar/anomalías , Adolescente , Malformaciones Arteriovenosas/terapia , Embolización Terapéutica , Cara/irrigación sanguínea , Femenino , Hemangioma Cavernoso/cirugía , Humanos , Neoplasias Mandibulares/etiología , Neoplasias Mandibulares/cirugía , Neovascularización PatológicaRESUMEN
The authors report two new cases of proliferating tricholemmal cyst. Physiopathological, clinical and histological findings are described. Differential diagnosis with squamous cell carcinoma is discussed.
Asunto(s)
Quiste Epidérmico/patología , Dermatosis del Cuero Cabelludo/patología , Anciano , Carcinoma de Células Escamosas/patología , Diagnóstico Diferencial , Femenino , Estudios de Seguimiento , Humanos , Persona de Mediana Edad , Cuero Cabelludo/patología , Neoplasias Cutáneas/patologíaRESUMEN
Three cases of osteochondroma of the mandibular condyle were observed with arthrosis type lesions. Based on a review of the literature, the epidemiologic, symptomatologic, pathologic and diagnostic characteristics of this rare benign tumour with facial localization are presented together with the therapeutic approach.