Laryngeal manifestations of pachyonychia congenita: a clinical case and discussion on management for the otolaryngologist.

BACKGROUND: Pachyonychia congenita is a rare keratinising disorder, which typically presents during the first three years of life and usually affects the nails and palmoplantar surfaces. It can involve the larynx and potentially result in life-threatening airway obstruction. METHODS: A case report is presented and the findings of a literature review are reported. The review involved a PubMed search using the keywords 'pachyonychia congenita' together with 'larynx', 'laryngeal involvement', 'laryngeal obstruction', 'airway obstruction', 'hoarseness' and/or 'stridor'. RESULTS: A five-year-old boy, with confirmed pachyonychia congenita, presented with complications of laryngeal involvement over a four-year period. He required three intubations and a tracheostomy for acute airway obstruction. Treatment with potassium titanyl phosphate laser laryngoscopy stabilised the progression of laryngeal disease. CONCLUSION: Patients with pachyonychia congenita and laryngeal involvement can have a varied presentation, ranging from hoarseness to acute airway obstruction. Management can be a challenge, requiring early evaluation, regular surveillance and aggressive treatment. This paper reports our experience in managing and treating the laryngeal complications of a child with pachyonychia congenita.

Small bowel obstruction secondary to an appendiceal tourniquet.

BACKGROUND: An 83-year-old lady was admitted with a 3-day history of non-specific abdominal pain that had rapidly increased in severity on the day of admission necessitating an emergency laparotomy. Intra-operative findings demonstrated a mechanical small bowel obstruction secondary to a chronically inflamed appendix acting as a tourniquet around a loop of terminal ileum. LEARNING POINT: This case highlights an extremely rare and life-threatening complication of appendicitis. LITERATURE REVIEW: True mechanical small bowel obstruction secondary to an acutely or chronically inflamed appendix encircling the distal small bowel remains extremely rare with only ten cases reported in the literature. CONCLUSION: Clinical assessment remains paramount in the treatment of these patients to facilitate prompt diagnosis and treatment which is vital to provide an optimal platform for post-operative recovery and survival. Although CT imaging is a highly effective investigative modality in these cases, operative treatment should not be delayed for a radiological investigation in the presence of abdominal peritonism.

A comparison of digital and screen-film mammography using quality control phantoms.

AIM: To compare the performance of a direct digital mammography system with normal-view and magnified-view conventional screen-film methods using quality control phantoms. MATERIALS AND METHODS: Using a Siemens Mammomat((R))3000 and an Opdima((R))digital spot imaging and biopsy attachment, film and direct digital images of two phantoms [DuPont and TOR (MAM)] were obtained under normal operating conditions. These were assessed by three groups of observers with differing expertise - radiologists, radiographers and medical physicists. Each observer was asked to compare the direct digital image with films taken in standard view and magnified view, providing scores for object visibility and confidence. For the digital images, observers were allowed to vary the image presentation parameters. RESULTS: Both phantoms showed that overall the direct digital view and the magnified view film performed significantly better (P < 0.05) than standard view film. For certain small or low contrast objects the differences became very highly significant (P < 0.001). CONCLUSION: Only the TOR (MAM) phantom showed any significant difference between digital and magnified modalities, with magnified views performing better for fine, faint filaments and digital acquisition better for low contrast objects. Almost no difference existed between the three observer groups. Undrill, P. E. (2000). Clinical Radiology53, 782-790.