Hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease is a systemic autosomal dominant disorder involving blood vessels. Phenotypically, the disease presents with telangiectases that involve all areas of the body. Ninety percent of patients experience epistaxis and are referred to the otolaryngologist for evaluation. Because otolaryngologists may be the primary physicians caring for these patients, it is critical they be knowledgeable about high risk groups, screening protocols for arteriovenous malformations, antibiotic prophylaxis, and genetic screening. It is important that they be aware of the many therapeutic modalities available for the treatment of epistaxis. In this article, the diagnosis, screening, treatment, and molecular genetics of HHT will be discussed. In addition, our experience with 20 patients treated with the Nd:YAG laser for recurrent epistaxis will be reviewed.

The authors have investigated whether genetic abnormalities in two genes, loss of heterozygosity (LOH) of p53 and amplification of the cyclin D1 gene, correlate with clinical outcome in 56 matched pairs of blood and tumor from patients with squamous cell carcinoma of the head and neck (SCCHN). Frequency of p53 LOH was 47.4%, of cyclin D1 amplification 33.9%, and of both abnormalities together 23.7%. p53 LOH was associated with T4 (P = 0.003) and stage IV (P = 0.015) tumors. Cyclin D1 amplification was associated with recurrences and/or metachronous tumors (P = 0.007). The total number of p53 and cyclin D1 abnormalities (scored as zero, one, and two) show a pattern that seems to be additive; the increase in the number of these abnormalities is associated with a proportional increase in the frequency of T4, stage IV, presence of recurrences and/or metachronous tumors, and possibly a proportional decrease in the disease‐free interval in the sample. The association of the markers with recurrences and/or metachronous tumors persists if the tumor stage effect is mathematically removed. The combined analysis of the p53 and cyclin D1 abnormalities seems to be more informative than either of them individually and may have predictive value in SCCHN.

The cochlear aqueduct is a bony channel which contains the fibrous periotic duct and connects the perilymphatic space of the basal turn of the cochlea with the subarachnoid space of the posterior cranial cavity. Previous histological studies suggested that patency depended on age, whereas a more recent study showed no statistical correlation between age and patency. To clarify patency in pediatric cochlear aqueducts, we selected 21 temporal bones from 12 infants and children, varying in age from birth to 9 years, in which the cochlear aqueduct was fully visible on one histological section. Photographs were taken for documentation and the length and width of the orifice of the external aperture of the aqueduct at the scala tympani were measured and followed to the internal aperture at the subarachnoid space. The lumen of the duct was examined for mononucleated cells, blood cells and fibrous tissue. Measurements revealed that the mean length of the cochlear aqueduct was 4.6 mm (range, 2.4-10.7 mm), mean width of the external aperture was 484 microm (range, 225-869 microm), and mean width of the internal aperture was 1293 microm (range, 699-2344 microm). The mean diameter of the narrowest part (isthmus) was 151 microm (range, 75-244 microm). In all temporal bones the cochlear aqueduct was patent, with one exception. This latter temporal bone was from a 2-month-old girl with multiple intralabyrinthine anomalies, with the missing cochlear aqueduct believed to be due to an aplasia. Our results support prior measurements of the cochlear aqueduct and demonstrate a short and patent cochlear aqueduct in newborns. With growth, a significant increasing length of the duct was found.