Cowden's disease is a rare autosomal dominant condition with characteristic mucocutaneous papillomatous lesions. These lesions are mucocutaneous markers for increased risk of malignancies in the thyroid, breast and the gastrointestinal tract. We discuss the case of a 50-year-old female patient who presented with oral and cutaneous papillomoas and a past history of breast malignancy. Important management aspects of these patients are considered.
Until recently the options for reconstruction of the microtic ear were unsatisfactory and the ear was often left alone. With recent advances, both autologous rib reconstruction and osseointegration produce good quality results. It is our practice to offer all patients a choice of no surgery, autologous rib cartilage reconstruction or an osseointegrated prosthetic ear. This study reports on parental choice between the reconstructive options as assessed by questionnaire. Earlier patients who have had their surgery were compared with more recent patients who have chosen an option but are awaiting surgery. In the patients who have had surgery, seven (30%) chose a prosthetic ear and 16 (69.5%) chose rib cartilage reconstruction, compared to those patients that are awaiting surgery, four (11%) chose a prosthetic ear and 31 (88.6%) chose rib cartilage reconstruction. The results show a significant increase in the choice for rib cartilage reconstruction in those patients awaiting surgery. Although high quality autologous reconstruction is not widely available we feel it is important that parents are at least informed that it is an alternative to osseointegration and no surgery.
. Hemifacial microsomia (HFM) is a common birth defect involving first and second branchial arch derivatives. The phenotype is extremely variable. In addition to craniofacial anomalies there may be cardiac, vertebral and central nervous system defects. The majority of cases are sporadic, but there is substantial evidence for genetic involvement in this condition, including rare familial cases that exhibit autosomal dominant inheritance. As an approach towards identifying molecular pathways involved in ear and facial development, we have ascertained both familial and sporadic cases of HFM. A genome wide search for linkage in two families with features of HFM was performed to identify the disease loci. In one family data were highly suggestive of linkage to a region of approximately 10.7 cM on chromosome 14q32, with a maximum multipoint lod score of 3.00 between microsatellite markers D14S987 and D14S65. This locus harbours the Goosecoid gene, an excellent candidate for HFM based on mouse expression and phenotype data. Coding region mutations were sought in the familial cases and in 120 sporadic cases, and gross rearrangements of the gene were excluded by Southern blotting. Evidence for genetic heterogeneity is provided by the second family, in which linkage was excluded from this region.
Oil of Wintergreen (methyl salicylate) is a common ingredient for liniments, ointments and essential oils used in self-treatment of musculoskeletal pain. Its pleasant smell also encourages its use to flavour confectionery. The toxic potential of this preparation is not always fully appreciated by the general public and physicians. To appreciate the danger of this oil it can be compared to aspirin tablets (325 mg dose): one teaspoon (5 ml) of Oil of Wintergreen is equivalent to approximately 7000 mg of salicylate or 21.7 adult aspirin tablets. Ingestion of as little as 4 ml in a child can be fatal. Prevention of accidental ingestion of methyl salicylate containing products can be achieved by keeping the products out of reach of children, using child resistant bottles, restricting the size of the openings of the bottles, appropriate labeling on products and reducing the salicylate content. Immediate action should be taken to treat a patient with accidental poisoning and hospitalisation is needed for monitoring and treatment. The danger of this product should be fully appreciated by both physicians and the general public. We present a case of Oil of Wintergreen poisoning with development of laryngeal oedema as a complication, general information and management issues will also be discussed.
Epistaxis is common in children. Trials show antiseptic cream is as effective as cautery, but it is not known whether either is better than no treatment. We wished to know the efficacy of cream in children with recurrent epistaxis. The design was a single-blind, prospective, randomized controlled trial set in the Otolaryngology clinic in a children's hospital. The participants were 103 children referred by their general practitioner for recurrent epistaxis. Excluded were those with suspected tumours, bleeding disorders or allergies to constituents of the cream. Referral letters were randomized to treatment and no treatment groups. Treatment was antiseptic cream to the nose twice daily for 4 weeks, which was prescribed by the general practitioner before clinic attendance. All children were given an appointment for 8 weeks after randomization. The main outcome measures were the proportion of children in each group with no epistaxis in the 4 weeks preceding clinic review. Complete data were available for 88 (85%) of the children. Of the treatment group, 26/47 (55%) had no epistaxis in the 4 weeks before the clinic appointment. Of the controls, 12/41 (29%) had no epistaxis over the 4 weeks. This is a relative risk reduction of 47% for persistent bleeding (95% CI 9-69%) and an absolute risk reduction of 26% (95% CI 12-40%), giving a number needed to treat of 3.8 (95% CI 2.5-8.5). We conclude that antiseptic cream is an effective treatment for recurrent epistaxis in children.
The incidence of an aberrant internal carotid artery in the middle ear is approximately one per cent and most patients are asymptomatic. We present two patients with an aberrant internal carotid artery who presented with pulsatile tinnitus and an intra-tympanic mass. Here we discuss the clinical presentation, relevant radiographic investigations and further management of these patients.
Stridor in infants may be potentially serious and would require further investigations in all cases. Laryngomalacia is the most common cause of congenital stridor. This is a self-limiting condition with a good prognosis but other causes of stridor should be excluded to enable the surgeon to plan further intervention if needed. Traditionally microlaryngoscopy and bronchoscopy under a general anaesthetic is performed to evaluate the airway. We have investigated the use of the flexible fibreoptic laryngoscope under local anaesthetics in infants with inspiratory stridor. The procedure was performed in the day surgery unit on a non-fasting, non-sedated child. A retrospective analysis of procedures performed between January 1998 and August 1999 was carried out. Of the 43 patients studied, laryngomalacia was diagnosed in 35, vocal cord palsies in six and two infants had a normal larynx. There were no complications during the procedure and only one child required further intervention. The results showed that the combination of fibreoptic laryngoscopy under local anaesthetic with follow-up is a safe, effective and cost effective method of assessing stridor in this group of patients.