Early invasive vulvar squamous cell carcinoma arising in a woman with vulvar pemphigus vulgaris and systemic lupus erythematosus

Pemphigus vulgaris (PV) is an autoimmune blistering disease of the skin and mucous membranes. Genital involvement occurs when most other common sites are concurrently affected or are in remission. Systemic lupus erythematosus (SLE) is an autoimmune disease that may affect many parts of the body and the skin with occasional bullous lesions. Pemphigus vulgaris and SLE may be associated, albeit rarely. Here, we report the first case of a woman affected with SLE presenting with early invasive squamous cell carcinoma (SCC) arising from Pemphigus Vulgaris of the vulva

Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit.

Metopic synostosis (MS) accounts for approximately 10-15% of all craniosynostosis and is etiologically heterogeneous. This study aimed to examine the causes of MS, as observed in a tertiary craniofacial unit. We reviewed the case notes of 110 children with a diagnosis of MS, attending the craniofacial unit in Oxford between 1991 and 2008. Our results showed 38 children (38/110 or 34.6%) who had at least one additional structural abnormality or had a known syndromic diagnosis were classed as having syndromic MS. Chromosomal abnormalities were noted in 8/38 (21.4%) children: mosaic marker chromosome 2, 9p deletion (2/8), 11q deletion, 12pter deletion and duplication of 15q25 with other additional chromosomal abnormalities (3/8). Other syndromic diagnoses included Silver-Russell syndrome and Greig cephalopolysyndactyly. Prenatal exposure to sodium valproate (VPA) was noted in 8/110 children (7.8%), with the dose of the VPA being >or=1,000 mg/day in all cases. Other prenatal exposures reported in this study were: maternal diabetes (6/110), enoxaparin for hypercoagulable state (1/110), and thyroxine (1/110). The majority of patients (72/110 or 65.4%) had nonsyndromic MS. Speech delay was present in 11 children with nonsyndromic MS (11/72 or 15.3%) and 10 children with syndromic MS (10/38 or 26.3%). We conclude that approximately two-thirds of all MS is nonsyndromic. Prenatal exposure to VPA is a common cause of MS. Maternal diabetes, not previously linked to MS, was noted in 5.5% of cases. Chromosomal abnormalities account for about 6% of MS. An increased risk of speech delay is seen with both the syndromic and nonsyndromic forms

The incidence of raised intracranial pressure in nonsyndromic sagittal craniosynostosis following primary surgery.

OBJECT Raised intracranial pressure (ICP) is recognized to occur in patients with nonsyndromic isolated sagittal craniosynostosis (SC) prior to surgery. However, the incidence of raised ICP following primary surgery is rarely reported and there appears to be a widely held assumption that corrective surgery for SC prevents the later development of intracranial hypertension. This study reports the incidence of postoperative raised ICP in a large cohort of patients with SC treated by 1 of 2 surgical procedures in a single craniofacial unit. METHODS A retrospective review was performed of all patients with SC who underwent either a modified strip craniectomy (MSC) or calvarial remodeling (CR) procedure under the care of the Oxford Craniofacial Unit between 1995 and 2010 and who were followed up for more than 2 years. The influence of patient age at surgery, year of surgery, sex, procedure type, and the presence of raised ICP preoperatively were analyzed. RESULTS Two hundred seventeen children had primary surgery for SC and were followed up for a mean of 86 months. The overall rate of raised ICP following surgery was 6.9%, occurring at a mean of 51 months after the primary surgical procedure. Raised ICP was significantly more common in those patients treated by MSC (13 of 89 patients, 14.6%) than CR (2 of 128 patients, 1.6%). Also, raised ICP was more common in patients under 1 year of age, the majority of whom were treated by MCS. No other factor was found to have a significant effect. CONCLUSIONS Postoperative raised ICP was found in more than 1 in 20 children treated for nonsyndromic SC in this series. It was significantly influenced by the primary surgical procedure and age at primary surgery. Careful long-term follow-up is essential if children who develop raised ICP following surgery are not to be overlooked

The microbiology of chronic osteomyelitis: prevalence of resistance to common empirical anti-microbial regimens.

OBJECTIVES: This study describes the microbiological spectrum of chronic osteomyelitis and so guides the choice of empirical antibiotics for this condition. METHODS: We performed a prospective review of a 166 prospective patient series of chronic osteomyelitis from Oxford, UK in which a standardised surgical sampling protocol was used. RESULTS: Staphylococcus aureus was most commonly isolated (32%) amongst a wide range of organisms including gram negative bacilli, anaerobes and coagulase negative staphylococci. Low grade pathogens were not confined to patients with a history of metalwork, a high proportion of cases were polymicrobial (29%) and culture negative cases were common (28%). No clear predictors of causative organism could be established. Many isolates were found to be resistant to commonly used empirical anti-microbial regimens. CONCLUSIONS: The wide range of causative organisms and degree of resistance to commonly used anti-microbials supports the importance of extensive intra-operative sampling and provides important information to guide clinicians' choice of empirical antibiotics

Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

OBJECTIVES: We describe the first cohort-based analysis of the impact of genetic disorders in craniosynostosis. We aimed to refine the understanding of prognoses and pathogenesis and to provide rational criteria for clinical genetic testing. METHODS: We undertook targeted molecular genetic and cytogenetic testing for 326 children who required surgery because of craniosynostosis, were born in 1993-2002, presented to a single craniofacial unit, and were monitored until the end of 2007. RESULTS: Eighty-four children (and 64 relatives) had pathologic genetic alterations (86% single-gene mutations and 14% chromosomal abnormalities). The FGFR3 P250R mutation was the single largest contributor (24%) to the genetic group. Genetic diagnoses accounted for 21% of all craniosynostosis cases and were associated with increased rates of many complications. Children with an initial clinical diagnosis of nonsyndromic craniosynostosis were more likely to have a causative mutation if the synostoses were unicoronal or bicoronal (10 of 48 cases) than if they were sagittal or metopic (0 of 55 cases; P = .0003). Repeat craniofacial surgery was required for 58% of children with single-gene mutations but only 17% of those with chromosomal abnormalities (P = .01). CONCLUSIONS: Clinical genetic assessment is critical for the treatment of children with craniosynostosis. Genetic testing of nonsyndromic cases (at least for FGFR3 P250R and FGFR2 exons IIIa/c) should be targeted to patients with coronal or multisuture synostoses. Single-gene disorders that disrupt physiologic signaling in the cranial sutures often require reoperation, whereas chromosomal abnormalities follow a more-indolent course, which suggests a different, secondary origin of the associated craniosynostosis