Joanna A. Davis

Sézary syndrome in an 11-year-old girl

All forms of cutaneous T-cell lymphoma are rare in children. We describe an 11-year-old girl who had generalized exfoliative erythroderma, intense pruritus, peripheral lymphadenopathy, mycosis cells in the skin and lymph nodes, and Sézary cells in the peripheral blood. Results of a biopsy specimen of involved skin showed changes consistent with mycosis fungoides. A classic case of Sézary syndrome has not previously been reported in childhood or preadolescence.

Genital Rhabdomyosarcoma: Current Management and Review of the Literature

Rhabdomyosarcoma is the most common soft tissue sarcoma in childhood and 20 per cent of these cancers involve the pelvis or genitourinary system. Radical pelvic surgery, such as exenteration, was considered at one time to be the standard treatment for this cancer which carried a very poor prognosis. Over the past 15 years, a combined modality approach to treating rhabdomyosarcoma, using chemotherapy, radiotherapy, and less radical surgery, has evolved and survival rates have improved. This paper presents a case of rhabdomyosarcoma involving the perineum which was treated by combination chemotherapy of Vincristine, Actinomycin-D, and Cytoxan, followed by wide local excision, interstitial and external beam radiotherapy, and postoperative chemotherapy. The literature on pelvic rhabdomyosarcoma is reviewed and the current approach to treating this cancer using multimodal therapy is discussed.

Inhibitor recurrence after immune tolerance induction: a multicenter retrospective cohort study.

Immune tolerance induction (ITI) in patients with congenital hemophilia A is successful in up to 70%. Although there is growing understanding of predictors of response to ITI, the probability and predictors of inhibitor recurrence after successful ITI are not well understood.

Prevalence of hypertension (HTN) and cardiovascular risk factors in a hospitalized pediatric hemophilia population

Improved life expectancy in hemophilia has led to a greater interest in age-related disorders. Hypertension (HTN) as well as cardiovascular disease have been increasingly reported in hemophilic adults but there is currently very limited data in the pediatric population. We conducted a cross-sectional study using data from the 2012 National Health Cost and Utilization Project database to determine the prevalence of HTN and associated cardiovascular risk factors in a hospitalized pediatric hemophilia population, between the ages of 0 to 21 years, in comparison with the general pediatric population. The prevalence of HTN was significantly higher in children with hemophilia (CWH) in comparison with the general pediatric population (1.71% vs. 1.02%, P-value=0.005). When adjusting the analysis for sex, the prevalence of HTN in the hemophilia cohort remained higher, although not statistically significant (1.52% vs. 1.22%, P-value=0.2568). When examining the concomitant presence of ≥1 cardiovascular risk factors in the hypertensive subgroups, CWH had a higher prevalence of obesity (2.64% vs. 1.32%, P-value <0.0001). Interestingly, diabetes mellitus was more prevalent in nonhemophilic children (1.47% vs. 0.56%, P-value=0.0015). These data suggest that cardiovascular risk factors need to be closely monitored in CWH, and a better preventive strategy is likely needed to identify those hemophilic patients at higher risk of developing cardiovascular disease in adulthood.

Hemophilic pseudotumor: An important differential diagnosis of an intracranial mass

Hemophilic pseudotumor is a rare complication of hemophilia. We present the case of a male toddler with moderate hemophilia A and cranial hemophilic pseudotumor managed with factor VIII infusions. We also provide a review of the literature. Recognition of this rare manifestation of this complication of hemophilia is important to provide correct treatment and avoid unnecessary investigations, particularly biopsy, which is contraindicated in this condition.

Focusing in on use of pharmacokinetic profiles in routine hemophilia care

Emergence of population pharmacokinetic models for prediction of individual pharmacokinetic (PK) profiles facilitates individualization of prescribed prophylactic therapy for patients with hemophilia A and B and may have a favorable impact on clinical outcomes and annual factor utilization. How providers approach the integration and application of these data into routine clinical practice is not clear.

The spectrum of bleeding in women and girls with haemophilia B

Although hemophilia B affects 1 in 25,000 males there may be 3 female hemophilia B carriers per affected male. This clinical review highlights the unique challenges faced by hemophilia B carriers including the under‐recognition of bleeding symptoms associated with and without FIX deficiency, discrepancies in correlation between genotype and bleeding phenotype and therapeutic considerations utilizing clinical vignettes of common scenarios.

Von Willebrand Factor for Menorrhagia: A Survey and Literature Review

von Willebrand disease (VWD) is the most common congenital bleeding disorder. In women, menorrhagia is the most common bleeding symptom, and is disabling with iron deficiency anaemia, high health cost and poor quality of life. Current hormonal and non‐hormonal therapies are limited by ineffectiveness and intolerance. Few data exist regarding von Willebrand factor (VWF), typically prescribed when other treatments fail. The lack of effective therapy for menorrhagia remains the greatest unmet healthcare need in women with VWD. Better therapies are needed to treat women with menorrhagia.

Cold Infusion for Salvage Partial Hilar Nephrectomy in Patient With Bilateral Wilms Tumor

We describe the use of an ice-cold solution of Ringers lactate with additives to ameliorate ischemia-reperfusion injury and avoid renal failure in a child with bilateral Wilms tumor requiring nonanatomic, hilar resection that would leave the patient with marginal renal parenchyma postoperatively. The adequate renal function afforded by the procedure avoided the possible need for dialysis and allowed the resection area to be irradiated to prevent tumor recurrence before eventual renal transplantation.