RESUMEN
Epispadias and exstrophy of the cloaca, also known as OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects), respectively constitute the most benign and severe ends of the bladder exstrophy-epispadias complex (BEEC) spectrum. In 2009, El-Hattab et al. reported the first patient with OEIS complex associated with a chromosome 1p36 deletion. Here we report a second patient with 1p36 deletion who also has classic bladder exstrophy, supporting the possible role of genes in this region in the development of BEEC. The absence of omphalocele and imperforate anus in our patient places him toward classic bladder exstrophy while presence of spina bifida and the absence of coccyx suggest an overlap with OEIS complex. An additional differential diagnosis is the pentalogy of Cantrell in our patient as he also has a diaphragmatic hernia and an incomplete sternum. This is the second observation of a ventral midline birth defect in association with 1p36 deletion syndrome, following El-Hattab et al.'s report [2009]. The three genes (NOCL2, DVL1, and MMP23B) discussed as possible candidates are also among the deleted ones in our patient, supporting the possible role of these genes in BEEC spectrum. © 2016 Wiley Periodicals, Inc.
Asunto(s)
Anomalías Múltiples/genética , Ano Imperforado/genética , Trastornos de los Cromosomas/genética , Epispadias/genética , Hernia Umbilical/genética , Escoliosis/genética , Anomalías Urogenitales/genética , Anomalías Múltiples/fisiopatología , Ano Imperforado/fisiopatología , Extrofia de la Vejiga/fisiopatología , Preescolar , Deleción Cromosómica , Trastornos de los Cromosomas/fisiopatología , Cromosomas Humanos Par 1/genética , Epispadias/fisiopatología , Femenino , Estudios de Asociación Genética , Hernia Umbilical/fisiopatología , Humanos , Masculino , Embarazo , Diagnóstico Prenatal , Escoliosis/fisiopatología , Anomalías Urogenitales/fisiopatologíaRESUMEN
There is a paucity of knowledge about benign bone lesions. The advances in imaging methods can screen bone lesions incidentally, and missing information can be provided. The aim of the study is to collect information about the prevalence and natural history of benign bone lesions with the use of whole-body biplanar slot-scanning imaging (EOS). EOS images acquired between 2015 and 2020 were retrospectively analyzed. Anatomical locations of lesions, number of lesions with polyostotic involvement and radiographic features of each were recorded. Fibrous lesions were further categorized according to the transition stages. The natural course was noted as remained in the same stage, progressed and disappeared during follow-up. A total of 1944 EOS images of 1378 (936 women and 442 men) patients were analyzed. The mean age was 12.3 (5-18) years. Bone lesions of the lower extremities were found in 278 scans (14.3%) of 196 (139 women and 57 men) patients (14.2%). Monostotic lesions were observed in 172 patients, and 24 had polyostotic lesions. The prevalence of lesions was 10.5%, 1.8%, 1.7%, 1.7% and 1.4 for fibrous cortical defect (FCD), nonossifying fibroma (NOF), osteochondroma, bone island and simple bone cyst, respectively. Among 145 FCDs, 55.2% of the lesions were stage A, 27.6% were stage B, 9.6% were stage C and 7.5% were stage D. EOS images acquired predominantly for spinal pathologies revealed a prevalence of 14% of benign bone tumors in the lower extremities. With the developments in imaging methods, the probability of encountering incidental lesion increases, and information about bone pathologies can be gathered.
Asunto(s)
Neoplasias Óseas , Enfermedades de los Cartílagos , Neoplasias de los Tejidos Blandos , Enfermedades de la Columna Vertebral , Neoplasias Óseas/diagnóstico por imagen , Neoplasias Óseas/epidemiología , Neoplasias Óseas/patología , Niño , Femenino , Humanos , Extremidad Inferior/patología , Masculino , Prevalencia , Estudios Retrospectivos , Imagen de Cuerpo EnteroRESUMEN
Osteoblastoma-like osteosarcoma, a rare form of osteosarcoma, is a malignant lesion associated with risks of both local recurrence and distant metastasis. The differential diagnosis of osteoblastoma-like osteosarcoma from osteoblastoma and aggressive osteoblastoma remains controversial and challenging. Previous studies suggest that these three types of tumor are distinct entities. However, working out a precise diagnosis may not always be possible immediately on the basis of initial clinical, radiological, and histopathological features. On the other hand, the importance of a correct diagnosis cannot be overemphasized since the treatment strategies change dramatically according to the nature of the lesion. In all of our cases, initial Tru-Cut biopsies revealed osteoblastic features with minimal atypia, but further biopsies confirmed malignancy. A high index of suspicion and considerable experience are prerequisites for accurate diagnosis in case of clinicopathological and radiological discordance.