Cavernous lymphangioma of the breast

<p>Abstract</p> <p>Background</p> <p>Cavernous lymphangioma is a rare lesion in the breast of adults. Only a few cases have been documented in literature.</p> <p>Case presentation</p> <p>We describe a 38-year-old woman who presented with a palpable breast lump, which measured 5 × 4 cm. A local excision of the lump was performed and a diagnosis of cavernous lymphangioma was made. The patient is alive and well, after five years of follow-up, with no complaints or recurrence.</p> <p>Conclusion</p> <p>To the best of our knowledge, this is the first case to be documented in a black African woman. Complete surgical excision seems to be the best modality of treatment of this lesion.</p

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

BACKGROUND: Sporadic vascular malformations (VMs) are complex congenital anomalies of blood vessels that lead to stroke, life-threatening bleeds, disfigurement, overgrowth, and/or pain. Therapeutic options are severely limited, and multidisciplinary management remains challenging, particularly for high-flow arteriovenous malformations (AVM). METHODS: To investigate the pathogenesis of sporadic intracranial and extracranial VMs in 160 children in which known genetic causes had been excluded, we sequenced DNA from affected tissue and optimized analysis for detection of low mutant allele frequency. RESULTS: We discovered multiple mosaic-activating variants in 4 genes of the RAS/MAPK pathway, KRAS, NRAS, BRAF, and MAP2K1, a pathway commonly activated in cancer and responsible for the germline RAS-opathies. These variants were more frequent in high-flow than low-flow VMs. In vitro characterization and 2 transgenic zebrafish AVM models that recapitulated the human phenotype validated the pathogenesis of the mutant alleles. Importantly, treatment of AVM-BRAF mutant zebrafish with the BRAF inhibitor vemurafinib restored blood flow in AVM. CONCLUSION: Our findings uncover a major cause of sporadic VMs of different clinical types and thereby offer the potential of personalized medical treatment by repurposing existing licensed cancer therapies. FUNDING: This work was funded or supported by grants from the AVM Butterfly Charity, the Wellcome Trust (UK), the Medical Research Council (UK), the UK National Institute for Health Research, the L'Oreal-Melanoma Research Alliance, the European Research Council, and the National Human Genome Research Institute (US)

A study of dermal grafts and cultured autologous keratinocytes in a porcine model

SIGLEAvailable from British Library Document Supply Centre-DSC:DXN005066 / BLDSC - British Library Document Supply CentreGBUnited Kingdo

Vicryl rapide inclusion cysts and suture sinus tracts following hypospadias repair

SummaryWe report three patients with vicryl rapide inclusion cysts and suture sinus tracts as late presentations and complications of primary hypospadias repair. All three patients underwent correction surgery to remove the cysts and lay open the suture sinus tracts with wounds closed with tissue glue with no further complications reported up to time of publication.Level of evidenceV

Circumcision in 'buried penis'--a cautionary tale.

BACKGROUND: The aim of a circumcision is to remove sufficient foreskin from the penile shaft and preputial epithelium to uncover the glans. Removal of too much preputial skin may lead to an unsatisfactory cosmetic and functional result. Patients with a congenital anomaly known as 'buried penis' are particularly susceptible to this. In this condition, abnormal dartos fascial bands or muscle fibres tether the penile shaft and as a result conceal its true length. CASE REPORT: A 5-year-old boy underwent circumcision but his 'buried penis' was not recognised by the surgeon pre-operatively. Unfortunately, his penile shaft was left almost entirely denuded of skin as a result. The wound required a full thickness graft. Follow-up at 1 year has so far been satisfactory. CONCLUSIONS: This case highlights the importance of early recognition of a buried penis when considering circumcision. It demonstrates the abnormal anatomy of a buried penis and its management. It also provides a potential reconstructive option in cases of excess skin removal

Two siblings with an unusual nasal malformation: Further instances of craniorhiny?

We report a brother and sister born to consanguineous parents. The siblings have hypertelorism, bifid nose, upturned nares, histologically proven intranasal dermoid, and soft-tissue swellings of the philtrum. One sibling also has a midline cleft lip and the other has narrowing of the posterior choanae. We suggest that they have craniorhiny, despite the absence of an abnormal skull shape. The differential diagnosis is discussed. (c) 2007 Wiley-Liss, In