Diagnostic and Management Considerations in Pediatric Dermatofibrosarcoma Protuberans.

BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a rare fibrohistiocytic tumor of dermal origin. Six percent of all cases present in children, with a childhood incidence of 1 per million. METHODS: This is a retrospective review of all cases of pediatric DFSP managed at a single institution over a 23-year period. RESULTS: Seventeen patients (10 male; mean age, 9.9 years) were managed during the study period. The median follow-up was 29 months. All patients had surgical excision. Three patients required further excision to achieve uninvolved final margins. There were no recurrences observed. CONCLUSIONS: Pediatric DFSP should be managed by a soft tissue tumor multidisciplinary team, with experienced pathologists and reconstructive surgeons. Where R0 resections are obtained, patients can experience recurrence-free survival.

Outcomes for minimally invasive parathyroidectomy: widening inclusion criteria based on preoperative imaging results.

BACKGROUND: Primary hyperparathyroidism is caused by a single adenoma in at least 80% of cases. Minimally invasive parathyroidectomy (MIP) has overtaken bilateral neck exploration as the gold standard for treatment in cases with adequate preoperative localization. There is evidence that, following careful review of preoperative imaging by the surgeon, increasing numbers of patients can successfully undergo MIP. METHODS: We conducted a retrospective review of 225 consecutive cases performed by a single surgeon. Outcomes for patients with disease reported as localized by radiologists and nuclear medicine physicians using sestamibi and ultrasound were compared with patients with negative or indeterminate localization studies, in which the surgeon reviewed the sestamibi, performed an ultrasound study and identified likely single adenomas and planned MIP. RESULTS: One hundred and sixty patients with radiologist-localized disease and an additional 29 patients with surgeon-localized disease underwent MIP. The surgeon-localized group had higher rates of conversion to bilateral neck exploration (21% compared with 4%, P = 0.004), but rates of failure to cure were comparable between the two groups (4.3% compared with 2.8%). CONCLUSION: Careful review of preoperative sestamibi and ultrasound studies by an experienced surgeon can increase the number of patients that can successfully undergo MIP for the treatment of primary hyperparathyroidism. Offering MIP to these patients does not result in increased rates of failure or recurrence.

Rhabdomyoblastic differentiation in metastatic melanoma: making sense of a rare but complex form of mimicry.

A case of melanoma with rhabdomyoblastic differentiation is presented in the context of the previously reported cases. The emerging literature seeking to identify the molecular basis of rhabdoid and rhabdomyoblastic differentiation, as well as their poor prognosis, is reviewed. The combination of a diverse range of morphology and the potential for spontaneous primary tumor regression, despite metastasis, makes the accurate diagnosis of melanoma challenging. Histopathology review is often recommended in these cases, as is referral to a specialized cancer center for discussion in a multidisciplinary meeting. Improved recognition of this rare pattern of melanoma morphology may provide the means for omics-based techniques to identify novel therapeutic targets to improve the prognostic outlook for these patients.

Torsion of the gallbladder: a systematic review.

BACKGROUND: Gallbladder torsion is a rare disease, predominantly affecting elderly women. It is an important differential in the acute surgical abdomen. METHODS: A total of 324 published case reports of torsion of the gallbladder were reviewed. Features in diagnostic imaging suggestive of torsion were reviewed and summarized. RESULTS: Gallbladder torsion is primarily a disease of elderly people; the median age at presentation is 77 years. It is more common amongst women, occurring at a female : male ratio of 4 : 1, although not in childhood, when it occurs at a male : female ratio of 2.5 : 1. CONCLUSIONS: Improved imaging techniques within the last 20 years have enabled the preoperative diagnosis of one quarter of patients with gallbladder torsion. With prompt surgical intervention, the condition has an excellent prognosis.

Connective tissue disorder--a new subgroup of boys with slow transit constipation?

PURPOSE: Slow transit constipation (STC) is a form of chronic constipation, with delayed colonic passage of stool. Possible etiologies include reduced neurotransmitter levels, reduced interstitial cells of Cajal density, or a disorder of connective tissue (CT) synthesis. A common CT disorder is generalized joint hypermobility (GJH). This study aimed to investigate whether there was a greater prevalence of GJH among patients with STC than controls. METHODS: Children (aged 7-17) diagnosed with STC by radio/nuclear transit study were recruited from outpatient clinics. Controls (no history of constipation) were recruited from outpatient clinics and a scout jamboree. Hypermobility was assessed using the Beighton score (4 or more = hypermobile). This project received ethical approval by the human research ethics committee. RESULTS: Thirty-nine STC subjects and 41 controls were measured. Of 39 STC subjects, 15 (38%) were hypermobile, compared to 8 (20%) of 41 controls (P = .06). Analyzed by gender, 10 (38%) of 26 STC males and 1 (4%) of 23 control males were hypermobile (P < .01). CONCLUSIONS: These results show that GJH is higher in STC children, particularly males, suggesting that a disorder of CT synthesis plays a role in the etiology of STC. Further research is required to ascertain the nature of any relationship and how this knowledge may aid our understanding and treatment of STC.