Epithelioid hemangioendothelioma of the nasal septum.

Epithelioid hemangioendothelioma of the nasal septum. BACKGROUND: Epithelioid hemangioendothelioma is a tumour of vascular origin and unknown aetiology, which occurs in all age groups. The most common locations are the liver, bone, lungs, and brain, with less common occurrence in head and neck regions, and no prior reports of origination from nasal septum. CASE REPORT: Here we report a case of epithelioid hemangioendothelioma of the nasal septum. A 62-year-old male patient attended our clinic with epistaxis and congestion in his left nasal cavity. Endoscopic examination revealed a mass within the left nasal passage. Clinical and histopathological examinations showed that the mass was a septum-originated epithelioid hemangioendothelioma. The mass was removed endoscopically using a transnasal approach. CONCLUSIONS: No recurrence was observed over 36 months of follow-up. Here we discussed this uncommon case along with a literature review.

A PATIENT WITH PARTIAL CHROMOSOME 12q DUPLICATION AND 10q DELETION.

Chromosomal deletions and/or duplications are relatively common cytogenetic abnormalities. Clinical findings depend on pure or complex forms of the anomaly, the location and size. In those cases, using current analytical technologies increases the possibility of discovering candidate genes that were not detected by conventional karyotyping responsible for these features. Here, we report an 18-month-old girl with prenatal and postnatal growth retardation, secundum ASD and PDA, facial dysmorphic features including frontal bossing, arched eyebrows, hypertelorism, wide nasal bridge and chronic diarrhea. Chromosome analysis on the peripheral leukocytes showed a 46,XX del(10)(q26.3),dup(12)(q24.11-q24.33) dn karyotype. An array-CGH analysis was performed to understand which genes were located on the deletion and duplication regions and what was their relationship with the phenotype. Based on our analyses, the deletion of the CALY gene on Chromosome 10q and the duplication of PTPN11 and TBX5 genes on chromosome 12q were possibly relevant for the clinical findings with our patient.