Muir-Torre syndrome: a case of unusual coexisting genetic mutations.

Patients with Muir-Torre syndrome (MTS) commonly have germline mismatch repair mutations in MLH1, MSH2 or MSH6, with a strong predominance in MSH2. A subset of approximately one-third of patients will instead have an autosomal recessive base excision repair mutation in MUTYH called MUTYH polyposis. To the best of our knowledge, this is the first report of coexisting germline MSH2 and MUTYH mutations in a patient with MTS.

Novel use of an air-filled breast prosthesis to allow radiotherapy to recurrent colonic cancer.

AIM: The authors present the novel and successful use of an air-filled breast prosthesis for extra pelvic exclusion of small bowel to facilitate adjuvant radiotherapy following resection of recurrent adenocarcinoma of the ascending bowel. The therapeutic use of radiotherapy in colon cancer can cause acute or chronic radiation enteropathy. Mobile small bowel can be sequestered in 'dead space' or by adhesions exposing it to adjuvant radiotherapy. A variety of pelvic partitioning methods have been described to exclude bowel from radiation fields using both native and prosthetic materials. METHOD: In this case a 68 year old presented with ascending colon adenocarcinoma invading the peritoneum and underwent en bloc peritoneal resection. Thirty-seven months later surveillance CT identified a local recurrence. Subsequent resection resulted in a large iliacus muscle defect which would sequester small bowel loops thus exposing the patient to radiation enteropathy. The lateral position of the defect precluded the use of traditional pelvic partitioning methods which would be unlikely to remain in place long enough to allow radiotherapy. A lightweight air-filled breast prosthesis (Allergan 133 FV 750 cms) secured in place with an omentoplasty was used to fill the defect. RESULTS: Following well tolerated radiotherapy the prosthesis was deflated under ultrasound guidance and removed via a 7-cm transverse incision above the right iliac crest. The patient is disease free 18 months later with no evidence of treatment related morbidity. CONCLUSION: The use of a malleable air-filled prosthesis for pelvic partitioning allows specific tailoring of the prosthesis size and shape for individual patient defects. It is also lightweight enough to be secured in place using an omentoplasty to prevent movement related prosthesis migration. In the absence of adequate omentum a mesh sling may be considered to allow fixation. In this case the anatomy of the prosthesis position allowed for its removal without the need for repeat laparotomy. Pre-operative deflation of the air-filled prosthesis under ultrasound guidance also reduces the size of the incision required for removal. This technique may be valuable to prevent collateral small bowel irradiation following resection of renal or retroperitoneal malignancy.

Facial artery musculomucosal flaps in oropharyngeal reconstruction following salvage transoral robotic surgery: a review of outcomes.

OBJECTIVE: There has been little reported on the transoral reconstructive options following salvage transoral robotic surgery. This paper describes the facial artery musculomucosal flap as a method to introduce vascularised tissue to a previously irradiated resection bed. METHODS: A facial artery musculomucosal flap was used to reconstruct the lateral pharyngeal wall in 13 patients undergoing salvage transoral robotic surgery for oropharyngeal squamous cell carcinoma. Outcomes recorded include flap and donor site complications, length of stay, and swallowing and speech outcomes. RESULTS: There were no immediate or late flap complications, or cases of delayed wound healing in this series. There were two facial artery musculomucosal related complications requiring surgical management: one bleed from the facial artery musculomucosal donor site and one minor surgical revision. Healing of the flap onto the resection bed was successful in all cases. CONCLUSION: The facial artery musculomucosal flap provides a suitable transoral local flap option for selected patients undergoing salvage transoral robotic surgery for oropharyngeal malignancies.

Vocal fold paralysis in the presence of thyroid disease: management strategies.

BACKGROUND: The presentation of vocal fold palsy with associated goitre has historically been considered to be due to malignancy with recurrent laryngeal nerve involvement. METHOD: In total, 830 consecutive patients who underwent thyroid surgery were reviewed. Patients with vocal fold paralysis and thyroid disease were examined to determine the aetiology of the paralysis. RESULTS: Nine patients were identified with new onset vocal fold paralysis prior to thyroid surgery. Six of the patients with recurrent laryngeal nerve paralysis had benign thyroid disease, and for three of the patients the paralysis was secondary to malignancy. CONCLUSION: Recurrent laryngeal nerve paralysis in the presence of thyroid disease is not pathognomonic for malignancy. The current literature may underestimate the association between vocal fold paralysis and benign thyroid disease. The paper also highlights the importance of recurrent laryngeal nerve preservation in patients who present with palsy and thyroid disease; the relief of benign compression often leads to complete recovery of recurrent laryngeal nerve paralysis.

Novel use of a supraclavicular transverse cervical artery customised perforator flap: a paediatric emergency.

Perforation of the piriform fossa is a rare, potentially life-threatening paediatric emergency. Prompt diagnosis and early operative intervention is key to patient survival, yet restoring aerodigestive continuity can pose a significant reconstructive challenge. A seven-month old baby girl presented to an emergency department acutely unwell with a twenty-four-hour history of haemoptysis, cough and worsening respiratory distress. A contrast swallow demonstrated extension of contrast into the retropharyngeal region necessitating immediate surgical intervention. A 3.0 cm×1.0 cm perforation within the left posterolateral piriform fossa was identified. The defect was repaired with a supraclavicular transverse cervical artery customised perforator flap. This was inset into the piriform fossa luminal defect as a life-saving procedure. Following a stormy post-operative course, the child was discharged home on day 28 of admission and admitted electively 6 weeks later for division of flap pedicle. This case highlights the novel use of this fasciocutaneous island flap to reconstruct an extensive, potentially fatal, piriform fossa defect in an acute paediatric setting. This simple flap design offers timely mobilisation, reliable blood supply, adequate tenuity and surface area, to reconstruct this extensive defect as a life-saving intervention in a profoundly septic child.

A rare angiosarcoma: retiform haemangioendothelioma.

OBJECTIVE: We report the case of a rare angiosarcoma, retiform haemangioendothelioma, in an 18-year-old young man, which presented as a recurrent ulcerating lesion of the left pinna. METHOD: Case report and literature review of retiform haemangioendothelioma. This is a low grade angiosarcoma with a high local recurrence rate and low metastasis rate, and was first described in 1994 by Calonje et al. RESULTS: This patient represents only the third report of lymph node metastasis in a case of retiform haemangioendothelioma. To date, 31 cases of the tumour have been reported. Histological diagnosis of this group of vascular neoplasms can be challenging, as their histopathological appearance is intermediate between haemangioma and angiosarcoma. CONCLUSION: Surgical excision remains the primary treatment modality, with adjuvant radiotherapy recommended in patients with large tumour size, local recurrence and lymph node metastasis, as seen in this case.