desmoid tumours ( dts ) , also known as fibromatoses , are rare soft tissue tumours that result from the abnormal proliferation of fibroblasts in musculo - aponeurotic structures .
they account for 0.03% of all neoplasms and can occur in mesenchymal structures of the limb and limb girdle , intra - abdominally or within the abdominal wall , .
although they are thought to lack metastatic capacity , dts can cause significant morbidity and even mortality due to size , compression and invasion of adjacent structures .
aetiological factors associated with dts are female gender especially of reproductive age , a history of abdominal surgery or trauma , and a family history of fibromatoses .
intra - abdominal dts are more commonly associated with familial adenomatous polyposis ( fap ) , an autosomal dominant inherited disorder that arises from mutations of the apc tumour suppressor gene .
desmoid tumours localized in the abdomen have a worse prognosis as they can cause intestinal bleeding , obstruction and perforation .
we report a rare case of a patient presenting in an acute confusional state who was found to have small bowel obstruction and perforation due to two large intra - abdominal dts arising from the small bowel mesentery .
a 54-year old nigerian man presented to the emergency department in an acute confusional state .
he had a background of three weeks of colicky abdominal pain which was associated with intermittent vomiting , hiccupping and polydipsia .
he had been opening his bowels daily and there was no history of weight - loss , haematemesis or rectal bleeding .
he was scheduled to have an abdominal ultrasound scan and on the day prior to presenting to hospital he had an oesophago - gastro - duodenoscopy ( ogd ) .
this showed gastritis and a gastric ulcer in gastric antrum and pre - pyloric region , respectively , as well as a large volume of gastric content despite a 10-h fast . a tissue biopsy was taken .
his abdomen was mildy distended and tender with no signs of peritonism or palpable masses .
laboratory tests revealed a mild normocytic anaemia ( haemoglobin count 11.5  g / dl ) , raised inflammatory markers ( white cell count 29.5 10 * 9/l , c  reactive protein 238  mg / l ) , impaired renal function ( urea 23.4  mmol / l , creatinine 233 , estimate gfr 25  ml / min/1.73 ) , a significant hyponatraemia ( na 104 
mmol / l ) and a raised serum lactate ( 3.4  mmol / l ) .
serum osmolality , urinary sodium and urinary osmolality were all decreased ( 244  mosmol / kg , 27  mmol / l and 206  mosmol / kg , respectively ) .
however , a ct of the abdomen and pelvis revealed two soft tissue masses in the abdomen ; the largest measuring 6.8  cm in the mid abdomen appeared to be causing proximal small bowel obstruction , and separate mass of similar tissue density measuring 5  cm adjacent to the ileocaecal region surrounded by a small amount of free fluid ( fig .
he was admitted into the intensive care unit for support and monitoring . at laparotomy the next day he was found to have a necrotic 7  cm mass arising from the mesentery of the distal jejunum / proximal ileum invading the contiguous small bowel , causing obstruction and perforation ( fig .
2 ) . a second mass measuring 6  cm was found arising from the mesoappendix and infiltrating into the ileocaecal region ( fig .
ileal and ileocaecal resections were carried out but due to the poor general condition of the patient four blind ending loops were left in the abdomen .
a planned re - look laparotomy was undertaken 48  h later with formation of jejuno - ileal and ileo - colic anastomosis .
five days later he had a third laparotomy for suspected anastomotic dehiscence and was found to have a defect in the jejuno - ileal anastomosis .
a controlled enterostomy using a foley catheter was formed , and the abdomen was managed as a laparostomy for 10  days after which an abdominal vac dressing was applied to facilitate abdominal wall closure microscopically , both lesions involved the walls of each bowel segment and formed a mesenteric mass , involving the serosal surface , which was coated in acute inflammatory exudates .
the lesions were formed of bland , uniform spindle cells and partially replaced muscularis propria .
the lesional spindle cells in each mass expressed smooth muscle actin , beta - catenin and vimentin .
other immunomarkers were negative ( alk-1 , bcl-2 , cd117 , cd34 , cd45 , desmin , ema , mnf116 , p63 and s100 ) .
a diagnosis of desmoid type fibromatoses / synchronous dts was made and confirmed by an external expert sarcoma hitopathologist .
the immunohistochemical profile excluded differential diagnoses of gastrointestinal stromal tumour ( gist ) , inflammatory myofibroblastic tumour , leiomyoma , peripheral nerve sheath tumour , spindle cell carcinoma , peripheral nerve tumour and metastatic spindle cell melanoma . the patient s post - operative recovery was slow with a 49-day stay in the intensive care unit and multiple theatre sessions for change of abdominal vac dressing .
he was an inpatient for a total of 57  days and was eventually discharged with an abdominal vac dressing , with planned community follow - up .
he was seen in outpatients 6 weeks following discharge and was referred for a colonoscopy which did not show any evidence of colonic polyposis . as there was no family history of or clinical evidence for fap he was referred to a specialist sarcoma centre for follow up .
only 5% of sporadic dts are intra - abdominal . in contrast , 80% of patients with familial adenomatous polyposis ( fap)-associated desmoid tumours develop intra - abdominal disease .
the majority of intra - abdominal dts ( 85% ) arise from the mesentery ,   and can cause significant morbidity and mortality due to their locally infiltrative behaviour which can result in bowel obstruction , perforation or fistula formation .
the subject of this case report presented to the physicians in an acute confusional state with a history of polydipsia and finding of profound hyponatraemia ( na 104  mmol / l ) .
the collateral history then revealed three weeks of abdominal pain and intermittent vomiting but there was no report of constipation .
the patient had no prior history of surgery or trauma to the abdomen , and no family history of fibromatoses or fap .
the final diagnosis of bowel obstruction was not established until a ct scan of the abdomen and pelvis revealed the two intra - abdominal masses which were thought to represent gist or lymphoma .
his demographics and lack of risk factors and/or family history made this diagnosis all the more unlikely .
the final diagnosis was established after histological analysis of the specimens and further confirmation by an external expert sarcoma hitopathologist .
the overall presentation was atypical for bowel obstruction and perforation from synchronous , mesenteric dts .
the confirmation of the non - fap status of the disease was made after the patient , who was in his mid - fifties , had a follow - up colonoscopy which revealed no colonic polyposis .
it is essential to exclude fap and investigate for attenuated fap ( afap ) in all patients presenting with abdominal dts since these two conditions carry a very high risk of development of colorectal cancer , , , , .
attenuated afp ( afap ) , where the mutation occurs at the extreme ends of the apc gene , is defined by the presence of three and 99 adenomas .
histological assessment is mandatory for differentiating dts from other neoplasms such as gastrointestinal stromal tumours , lymphoma , pleomorphic sarcoma and fibrosarcoma .
microscopically they are composed of spindle- or stellate - shaped fibroblastic cells embedded in a collagenous stroma .
genetic testing for fap or afap was not performed as up to 30% of patients with a clear fap phenotype and 75% with afap have no identifiable apc gene mutation . ultrasonography ( uss ) , computed tomography ( ct ) and magnetic resonance imaging ( mri ) can and have all been used to establish the nature , extension and anatomical relationship of dts . on uss dts appear as lesions of variable echogenicity and on ct scanning they are homogenously enhanced with well - defined margins .
desmoid tumours appear hypo - intense on t1-weighted mri and predominantly hyper - intense on t2-weighted mri , reflecting the proliferation of fibroblasts , . due to the rarity of these tumours
there are no clear guidelines on their management and this is instead based on small case series from specialist centres , . before consideration of surgery , in the non - acute setting , patients should be fully investigated for fap , afap and other hereditary polyposis syndromes with a family history , full colonoscopy with dye spray ( chromoendoscopy ) , random biopsies to identify microadenomas , and ogd to look for cystic gland polyps in the stomach and duodenal adenomas .
the management of desmoid tumours is then dependent on whether they are sporadic or not . in the presence of fap or other polyposis syndrome the patient
instead medical therapies such as non - steroidal anti - inflammatory drugs , tamoxifen and chemotherapy are trialled as first and often second line therapy .
this contrasts with the management of sporadic intra - abdominal dts , which should be managed in a specialist sarcoma unit by a multidisciplinary team .
they are thought to have low recurrence rates after resection and therefore surgery is recommended as the first - line treatment for amenable tumours .
emergent presentations such as in this case require emergency laparotomy in suitable surgical candidates . in our patient ,
the treatment of choice was small bowel and ileocaecal resections as resection of the mesenteric tumours alone would have interrupted the mesenteric blood supply to the bowel , resulting in bowel ischaemia .
some studies suggest that margins are significant for predicting recurrence but others have demonstrated that they do not add prognostic value , .
this is a rare case of sporadic , synchronous intra - abdominal dts presenting with atypical symptoms .
the patient made a good recovery following emergency surgery . in non - emergency settings it is essential to exclude fap , afap and other hereditary polyposis syndromes since this affects treatment and subsequent follow - up .
written informed consent for publication of this case report and any accompanying images was obtained from
 highlightsintra - abdominal desmoid tumours have a poor prognosis as they can cause intestinal bleeding , obstruction and perforation.the authors report a rare case of small bowel obstruction and perforation secondary to sporadic , synchronous intra - abdominal desmoid tumours.in non - emergency presentations of desmoid tumours , it is essential to exclude hereditary polyposis syndromes.sporadic intra - abdominal desmoid tumours should be managed in a specialist sarcoma unit.in the presence of polyposis syndromes patients with desmoid tumours should be managed at a specialist colorectal unit . 
Introduction
Presentation of case
Discussion
Conclusion
Consent
Conflict of interest