RESUMEN
We present a comprehensive review dealing with rare genetic skeletal disorders. More than 400 entities are included in the latest classification. The most severe or lethal phenotypes are identifiable in the prenatal period and the pregnancy can be terminated. Perinatal autopsy and posmortem X-rays are crucial in providing a definitive diagnosis. The number of cases confirmed by genetic testing is increasing. We report our own experience with genetic skeletal disorders based on 41 illustrative fetal and neonatal cases which we encountered over a 10-year period. Thanatophoric dysplasia and osteogenesis imperfecta represent approximately half of the cases coming to autopsy. Achondrogenesis type 2 and hypochondrogenesis, short-rib dysplasia, chondrodysplasia punctata, campomelic dysplasia and achondroplasia are less common. Skeletal dysplasias with autosomal recessive inheritance are the least frequent, e.g. perinatally lethal hypophophatasia, achondrogenesis type 1A, diastrophic dysplasia/atelosteogenesis type 2 or mucolipidosis type 2 (I cell disease).
Asunto(s)
Displasia Campomélica , Osteocondrodisplasias , Displasia Tanatofórica , Embarazo , Femenino , Humanos , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/genética , Displasia Tanatofórica/genética , Receptor Tipo 3 de Factor de Crecimiento de Fibroblastos , FetoRESUMEN
Salivary gland choristoma is an extremely rare middle ear pathology. We present the case of a 10-year-old girl with unilateral conductive hearing loss. Tympanotomy showed a nonspecific middle ear mass, absence of stapes, anomaly of incus, and displaced facial nerve. It was not possible to remove the mass completely. Histology confirmed salivary gland choristoma. The hearing in this case can be improved with a bone-anchored hearing aid.
Asunto(s)
Coristoma/complicaciones , Pérdida Auditiva Conductiva/congénito , Enfermedades del Laberinto/complicaciones , Glándulas Salivales , Niño , Oído Medio/patología , Nervio Facial/anomalías , Femenino , Audífonos , Pérdida Auditiva Conductiva/terapia , Humanos , Yunque/anomalías , Ilustración Médica , Prótesis Osicular , Estribo/anomalíasRESUMEN
Spindle cell hemangioma is a benign vascular tumor typically occurring in the dermis or subcutis of distal extremities as red-brown lesions that can grow in both size and number over time. They can be very painful and potentially disabling. A family history of cancer or previous history may be relevant and must be taken into consideration. Juxtaglomerular cell tumor (reninoma) is an extremely rare cause of secondary hypertension diagnosed mostly among adolescents and young adults. Excessive renin secretion results in secondary hyperaldosteronism. Subsequent hypokalemia and metabolic alkalosis, together with high blood pressure, are clues for clinical diagnosis. Histological examination of the excised tumor leads to a definitive diagnosis. Reninoma is found in subcapsular localization, in most cases as a solitary mass, in imaging studies of kidneys. Exceptionally, it can be located in another part of a kidney. Both spindle cell hemangioma and reninoma are extremely rare tumors in children and adolescents. Herein, the authors present a case report of a patient with hereditary BRCA1 interacting protein C-terminal helicase 1 (BRIP1) mutation, spindle cell hemangioma, and secondary hypertension caused by atypically localized reninoma.
Asunto(s)
Proteínas del Grupo de Complementación de la Anemia de Fanconi/genética , Predisposición Genética a la Enfermedad , Hemangioma/genética , ARN Helicasas/genética , Mutación de Línea Germinal/genética , Hemangioma/diagnóstico , Hemangioma/patología , Humanos , Aparato Yuxtaglomerular/patología , Riñón/metabolismo , Riñón/patologíaRESUMEN
Myringotomy is a surgical incision of tympanic membrane used mainly as therapy for acute otitis media. It is a safe and simple procedure; however possible complications must be considered. In this article is described a case study of a 2-and-a-half-year-old girl with a massive oto-liquorrhea following myringotomy.
