Hypohidrotic ectodermal dysplasia (HED) is a rare condition characterized by abnormalities to ectodermal derived tissues although other organs or systems are frequently involved. Patients with HED can have a number of symptoms that may lead them to present to the otolaryngologist. We present a case of a 37-year-old female with HED who initially presented with nasal obstruction but then very rapidly developed stridor due to a tracheal squamous cell carcinoma. We suggest a possible association between HED and carcinoma of the upper respiratory tract that has not previously been reported.

Clear cell carcinoma of the salivary glands is a rare tumour that represents less than one per cent of all salivary tumours. They are divided into a biphasic, epithelial-myoepithelial carcinoma and a monophasic pattern which may be myoepithelial or ductal in origin. The latter is accompanied by prominent fibrohyaline stroma and has been described recently as hyalinizing clear cell carcinoma (HCCC).

Most of the HCCC occur in the oral cavity, and are associated with minor salivary glands, unlike the biphasic pattern which is more common in the major salivary glands. In the oral cavity, the commonest site is the palate followed by the lips and the buccal mucosa. Its occurrence in the oropharynx and the larynx is extremely rare.

We report a case of an abscess from an ’ectopic’ accessory parotid gland in the cheek demonstrated by sialography and computed tomography (CT). The accessory parotid gland was ectopically located anterolateral to the masseter muscle and isolated from the main parotid gland. The orifice and ductal system of the ectopic accessory parotid gland were separated from those of Stensen’s duct. The abscess developed from this ectopic accessory gland, and the main parotid gland was free of inflammation. Using sialography and CT, we confirmed the presence of this ectopic accessory gland.

A rare case of multiple infiltrating lipomas in the tongue of a 54-year-old man is reported. There have been only five previously reported cases of infiltrating lipoma of the tongue. They were all solitary in nature. The present lesion is the first case reported in the English literature of multiple infiltrating lipoma of the tongue. Because of its infiltrating nature, this tumour may be mistaken for a liposarcoma. Achievement of adequate surgical margins is essential, as the recurrence rate may be as high as 62.5 per cent without complete excision.

Sporadic medullary thyroid carcinoma (MTC) usually presents with a thyroid mass, cervical lymphadenopathy or other local cervical symptoms. Often the diagnosis is unsuspected pre-operatively. We report a unique case of a mixed follicular medullary thyroid carcinoma presenting as a tumour with extreme vascularity. The management of hypervascular thyroid tumours is discussed together with current controversies regarding persistent hypercalcitoninaemia.

Desmoid tumours are uncommon benign neoplasms. They arise from fascial and musculoaponeurotic tissues and are locally infiltrative, resulting in a high rate of local recurrence following surgical resection. They present difficult loco-regional control. The location and extent of the tumour, as well as the potential for significant morbidity and mortality, dictate the most appropriate therapeutic option. Complete surgical extirpation is the optimal treatment for primary and recurrent desmoid tumours. Radiotherapy isindicated in incompletely excised or recurrent tumours. Radiation as a primary treatment is seldom recommended. A case of desmoid tumour of the neck, primarily treated with radical radiation, is described and relevant literature reviewed.

Epithelioid sarcoma (ES) is a rare tumour that seldom presents to the otolaryngologist. It typically occurs in the extremities of young adolescents; however, it has the capability of metastasizing, often to the lungs or skin. The diagnosis is by histopathological examination and immunohistochemistry. We present a case of metastatic ES occurring in the tongue, a tumour not reported previously in the English literature.

Focal myositis (of Heffner) in the right trapezius and paraspinal muscles accompanied by a pseudotumour of the left orbit has not been reported previously. The clinical, pathological and radiological features of these unusual benign pseudotumours of the head and neck are discussed. Computerized tomography (CT) scan of the neck and orbital ultrasound were suggestive of an inflammatory process without an abscess formation. This was followed by fine needle aspiration cytology (FNAC), which confirmed the diagnosis. The patient was treated with intravenous steroids and antibiotics, that led to complete resolution of symptoms, and there was no recurrence at six months follow-up. This report highlights the importance of imaging in inflammatory neck swellings.

A thrombosed varicose vein arising in the neck is quite rare. A 68-year-old Japanese male was referred to our hospital because of a mass in his left upper neck. The mass did not change in size in response to strain resulting from Valsalva’s manouvre. Magnetic resonance imaging (MRI) showed iso-signal intensity of the mass on T1-weighted images and a target-like signal arrangement (concentric hyper-, hypo-, hyper-signal intensity from outside to inside) on T2-weighted images. Surgical excision revealed that the tumour arose from the intramuscular small vein in the sternocleidomastoid muscle. The pathological examination revealed the mass to be a thrombosed varicose vein with capillarization in the dilated vein wall. The de-oxygenation and degradation of haemoglobin were thought to be responsible for these characteristic MRI findings. The concentric signal distribution on MRI strongly suggested this pathology.

Anaplastic thyroid cancer is a condition with a dismal prognosis in most cases. We present a case of subclavian vein compression in a case of anaplastic thyroid carcinoma treated with subclavian venous stenting. Subclavian vein compression is a recognized complication in disseminated carcinomatosis particularly in carcinoma of the breast and bronchus. It has never been described in anaplastic thyroid carcinoma.

Endolymphatic sac tumours (ELST) are rare tumours of the petrous temporal bone. They may arise sporadically or be associated with von Hippel-Lindau disease. Their differential diagnosis is discussed. We present the clinical and histopathological features of two new patients with ELST and outline the management of their condition. In addition, we review a third case previously reported as a choroid plexus papilloma in which the histology has been re-assessed and the diagnosis changed to ELST. The controversy regarding the cellular origins of adenomatous tumours of the temporal bone is highlighted.

A case of spontaneous haemorrhage into the retropharyngeal and parapharyngeal space secondary to bleeding from a thyroid cyst is described. While many conditions are known to cause this entity, no previous papers have reported a thyroid cyst to cause such extensive haemorrhage. Haemorrhage in these spaces is of particular importance as it causes rapid airway compromise and can be life-threatening. Forty cases of non-traumatic retropharyngeal and parapharyngeal haematomas have been reported in the literature to date. Although the diagnosis can be easily established in most patients, no published review of this condition exists. This paper reviews all reports of non-traumatic retropharyngeal and parapharyngeal haematoma published in the literature to date and discusses management guidelines. We also present here for the first time the demographics and treatment results of this rare entity.

Dermoid cysts are rare benign tumours, they represent the simplest form of teratoma. Approximately seven per cent affect the head and neck region, within this region they are frequently encountered in the area of the lateral eyebrow, the orbit and the nose. A case of a 17-year-old girl who developed a rapidly growing facial swelling due to an infratemporal fossa dermoid cyst is presented. A review of the literature using Medline has not revealed any previous reports of similar cases. The lesion was completely excised using a lateral approach to the infratemporal fossa.

Spontaneous orbital haematoma is uncommon in ENT practice. The sudden presentation of proptosis and diplopia may guide the differential diagnosis towards more common pathologies such as an intraorbital complication of acute sinusitis or neoplasm of the orbit. The diagnosis by computed tomography (CT) scan, the management of this orbital disease and the literature in this field are discussed.

Twenty-eight patients with a clinical diagnosis of sinonasal Wegener’s granulomatosis were referred for imaging during the period 1990-2001. Of these, 10 had clinical symptoms and signs confined to the nose and sinuses and 18 had classical systemic Wegener’s. The computed tomography (CT) and magnetic resonance (MRI) scans of the series were reviewed by a panel of one otolaryngologist and two radiologists. From the total of 28 patients, 85.7 per cent showed non-specific mucosal thickening in the nasal cavity or paranasal sinuses, 75 per cent showed evidence of bone destruction, and 50 per cent new bone formation in the walls of the sinus cavities. In addition the orbit was affected in 30 per cent of patients.

The diagnosis of systemic Wegener’s granulomatosis is made clinically but the condition may present characteristic features on imaging by CT and MRI. In a patient without a history of previous sinonasal surgery, a combination of bone destruction and new bone formation on CT is virtually diagnostic of Wegener’s especially when accompanied on MRI by a fat signal from the sclerotic sinus wall. These changes are important diagnostically in localized sinonasal Wegener’s granulomatosis where the clinical diagnosis may be uncertain and the cANCA test can be negative.