We report a patient and his family, who have branchio-oto-renal (BOR) syndrome and coexisting mitral valve prolapse. A literature review of BOR syndrome failed to identify any similar families and we report this as a new observation. During the preoperative assessment of a patient with BOR syndrome, tachycardia was noted and a cardiologic examination including echocardiography revealed mitral valve prolapse. Members of his extended family were investigated, including carrying out cardiology and otolaryngology examinations to determine whether they had signs of either BOR syndrome or cardiac problems. Mitral valve prolapse was identified in five (71.4%) of the seven BOR syndrome patients in the family. Deafness was present in all patients. Distribution of the other clinical findings of the BOR syndrome patients were as follows: branchial fistula in five (71.4%), preauricular pits in four (57.1%), ear deformity in two (28.5%), renal anomalies in three (42.8%), lacrimal duct anomaly in two (28.5%) and orbital anterior compartment anomaly in one (14.2%). We conclude that mitral valve prolapse can be associated with BOR syndrome. Further large studies are needed to clarify this association.
We investigated the effects of smokeless tobacco on the survival of random-pattern skin flaps in rats. Twenty rats were divided into two groups (n=10 each). In the experimental group 200 mg smokeless tobacco (Maras powder) (1 mg nicotine) was inserted intraorally once a day for seven days under general anaesthesia. It was not given to the control group, but the rats were similarly anaesthetised with ketamine. On day 8, plasma cotinine concentrations were measured. The random-pattern dorsal skin flaps measuring 3 x 10 cm were then raised and resutured. Percentage survival area was assessed after a further eight days. The mean (SD) survival was 39 (7)% in the experimental, and 65 (8.9)% in the control, groups (p=0.0001). The mean (SD) plasma cotinine concentrations were 124.4 (73) ng/ml and <10 ng/ml, respectively. Smokeless tobacco use increased the incidence of flap necrosis in random-pattern skin flaps in rats.
We report on a 17-year-old man who presented with unreported combination of right sided microtia and preauricular skin tag with conductive hearing loss, unilateral renal agenesis, partial syndactyly of forth and fifth metacarpals, multiple tarsal coalitions, absent toe, and hypoplastic tibia and fibula. Radiological and clinical findings did not match with the previously described syndromes with the type of anomalies seen in the case. We propose that this represents a new syndrome.
Highlights
Superficial Acral Fibromixoma (SAF) is a benign and rare tumor of the soft tissues.
Local recurrence is often associated with a positive margin.
Follow-up is recommended due to the risk of recurrence.
Superficial Acral Fibromixoma, one of the rare myxoid neoplasms should be considered in the differential diagnosis.
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