RESUMEN
Ewing's sarcoma is one of the most aggressive primary bone tumours. Ewing's sarcoma arising from the bones of the head and neck region is extremely rare; only 4-9% of all Ewing's sarcoma originate in this region. We report a case of Ewing's sarcoma localized in the mandible because of its unusual presentation.
RESUMEN
Familial hemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive lethal condition characterized by fever, cytopenia, hepatosplenomegaly and hemophagocytosis. The presence of central nervous system involvement has a profound impact on the prognosis, treatment, and clinical outcome of the disease. Therefore, the identification of the clinical manifestations of the disease and the characterization of the accompanying neurological symptoms are of prime importance for the rapid diagnosis and subsequent clinical management of the disease. Herein, we report a case of FHL with homozygosity for perforin gene mutation, who presented with central nervous system involvement in the absence of systemic findings.
Asunto(s)
Enfermedades del Sistema Nervioso Central/genética , Homocigoto , Linfohistiocitosis Hemofagocítica/genética , Mutación Missense , Perforina/genética , Niño , Resultado Fatal , Femenino , Humanos , TurquíaRESUMEN
OBJECTIVE: Down's syndrome is the most frequent chromosomal anomaly that can affect a multiple organ systems, including skin. In this study, we compared the frequency of mucocutaneous disorders in children with Down's syndrome with normal children. METHODS: We recruited fifty children with Down's syndrome and 50 healthy children as a control in our study. Mucocutaneous abnormalities were examined in both groups. FUNDINGS: Of 50 patients, 22 were girls and 28 were boys. The skin findings such as xerosis and Mongolian spots were the most frequently seen in the patients with Down's syndrome. Seborrheic dermatitis, cheilitis and fissured tongue were seen frequently, as well. The rare findings were plantar hyperkeratosis, alopecia areata, geographic tongue, café-au-lait macula, livedo reticularis, cutaneous infections, pityriasis capitis simplex, cutis marmorata, neurotic excoriation, trichotillomania, keratosis pilaris and diaper dermatitis. No mucocutaneous finding was seen in 16 patients. The prevalence of the skin disorders including Mongolian spot, seborrheic dermatitis, cheilitis, fissured tongue was significantly higher in patients with Down syndrome than normal individuals (p<0.05). CONCLUSION: Therefore, large-scaled epidemiological studies covering the entire population are needed. We believe that these studies could provide better understanding the dermatological diseases in children with Down's syndrome that would help to practitioners to treat these problems.