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Background: Vascular anomalies that exhibit a slow velocity of blood flow, specifically venous malformations (VM), are associated with hypercoagulability. There is limited literature on the utilization of hormonal contraceptives (HCs) and the development of clotting events in female individuals diagnosed with VM. Objective: We aimed to characterize HC utilization and associated odds of hypercoagulopathy in patients with VM of child-bearing age. Methods: Using a national administrative claims database, we identified female patients with VM aged 15–49 years and a control population, matched for age and length of insurance enrollment, from 2016 to 2021. Multivariable logistic regression was used to estimate the odds of hypercoagulation events associated with HC use. Results: Two hundred and sixty-seven (47.2%) patients with VM and 1284 (45.4%) control patients utilized HCs during the study period. Oral contraceptives were the most common HC for patients with and without VM (73.8% and 76.9% of those taking HCs, respectively), and estrogen-containing combination HCs (70.4% in patients with VM and 75.9% in controls) were more prevalent than progestin-only HCs in both populations. Despite a heightened baseline odds of hypercoagulopathy in patients with VM relative to patients without VM (odds ratio = 12.54; 95% confidence interval 7.73–20.3), HC use was not associated with an increased odds of hypercoagulation in the VM subpopulation (odds ratio = 0.82; 95% confidence interval 0.46–1.46). In contrast, tobacco use (odds ratio = 2.12; 95% confidence interval 1.09–4.12) and a history of coagulopathy (odds ratio = 3.92; 95% confidence interval 1.48–10.36) were predictive of thromboembolic events in the VM cohort. Conclusions: These findings suggest that patients with VM may safely use HCs with careful consideration of other risk factors for thromboses. [ABSTRACT FROM AUTHOR]

A boy with acute lymphoblastic leukemia (ALL) experienced life-threatening vincristine neurotoxicity while simultaneously exposed to itraconazole. Five pediatric and six adult cases of itraconazole-enhanced vincristine toxicity have been reported, all with ALL. Upon cessation of the itraconazole, the patient's symptoms resolved, which is similar to the outcome of the previously reported cases: 10 of 11 patients had complete resolution of symptoms. [ABSTRACT FROM AUTHOR]

Xanthoma disseminatum is a normolipemic non-Langerhans cell histiocytosis characterized by red-brown rubbery papules of the skin which coalesce into plaque-like lesions with symmetric involvement of face, flexor, and intertriginous areas. Less commonly, xanthoma disseminatum may affect mucosal linings, abdominal organs, and the central nervous system, leading to endocrinopathies. We report a 12-year-old adolescent with mucosal, central nervous system, and painful cutaneous lesions, further complicated by diabetes insipidus and amenorrhea. Treatment with 2-chlorodeoxyadenosine led to relief of pain and significant improvement of mucosal, central nervous system, and cutaneous lesions, with subsequent restoration of menstrual cycles. [ABSTRACT FROM AUTHOR]

Our objective was to describe the efficacy of darbepoetin alfa and ferric gluconate complex in the treatment of the anemia associated with recessive dystrophic epidermolysis bullosa. To accomplish this aim, we retrospectively reviewed a series of patients with this disease treated in a single institution with darbepoetin alfa and parenteral iron for anemia. Four patients with recessive dystrophic epidermolysis bullosa were treated for a mean length of treatment of 14.5 months (4–18 months). Three patients received parenteral iron in the form of ferric gluconate complex and one received iron dextran. The mean pretreatment hemoglobin was 6.8 g/dL (4.9–9.6 g/dL). All four had improvements in their hemoglobin levels and energy levels with a mean increase in hemoglobin level of 2.8 g/dL (p = 0.003). We found darbepoetin alfa and ferric gluconate complex to be effective in the treatment of anemia associated with recessive dystrophic epidermolysis bullosa and to have distinct advantages over previously described formulations, and we concluded that they should be considered in the supportive care of this disease. We recommend the development of a standardized protocol for the evaluation and management of recessive dystrophic epidermolysis bullosa-associated anemia. [ABSTRACT FROM AUTHOR]

We report four cases of diffuse infantile hepatic hemangioma, a rare but potentially life-threatening subset of hepatic hemangiomas. All patients demonstrated distinctive dome-shaped red-purple cutaneous hemangiomas. Two patients responded to steroids and propranolol (one in combination with vincristine), and two responded to steroids and vincristine. After a systematic literature review, we identified 26 previously reported cases of diffuse infantile hepatic hemangioma. Diffuse infantile hepatic hemangioma had a mortality rate of 17% and a >70% incidence of hypothyroidism, often severe ( n = 30). More than one-third of patients developed heart failure (high output in half the cases). Based on our experience, early aggressive medical management, as well as thyroid replacement when indicated, should be initiated early in the course of diffuse infantile hepatic hemangioma pending evaluation for liver transplant. [ABSTRACT FROM AUTHOR]

Abstract: Idiopathic neutropenia (IN) in children is characterized by decreased neutrophil counts (<1500/μl), can be acute or chronic (greater than 6 months duration). The pathophysiology is not well understood; therefore, potential mechanisms of pediatric IN were investigated. An increase in Fas transcripts in neutrophils of IN patients compared to age-matched healthy control (HC) neutrophils was observed (p <0.005). Increased expression of Fas protein was found in IN neutrophils, while Fas surface expression on other immune cells was similar. Plasma from acute IN patients had higher protein levels of soluble FasL than chronic IN patients. When HC neutrophils were incubated in plasma from IN patients, greater rates of apoptosis were observed. Biochemical studies suggest the apoptotic factor(s) in plasma is heat-sensitive, non-IgG, and 12–50 kD protein. Addition of anti-sFasL blocking antibodies to patient plasma caused a statistically significant decrease in neutrophil apoptosis. These studies show that the Fas/FasL pathway could be associated with neutrophil apoptosis in childhood IN. [Copyright &y& Elsevier]

Iron-overload associated endocrinopathy is the most frequently reported complication of chronic transfusion therapy in patients with thalassaemia (Thal). This study compared iron-overloaded subjects with Thal ( n = 142; 54%M; age 25·8 ± 8·1 years) and transfused sickle-cell disease (Tx-SCD; n = 199; 43%M, 24·9 ± 13·2 years) to non-transfused SCD subjects (non-Tx-SCD; n = 64, 50%M, 25·3 ± 11·3 years), to explore whether the underlying haemoglobinopathy influences the development of endocrinopathy. Subjects were recruited from 31 centres in the USA, Canada and the UK. Subjects with Thal had more evidence of diabetes (13% vs. 2%, P < 0·001), hypogonadism (40% vs. 4%, P < 0·001), hypothyroidism (10% vs. 2%, P = <0·001) and growth failure (33% vs. 7%, P < 0·001), versus Tx-SCD. Fifty-six per cent of Thal had more than one endocrinopathy compared with only 13% of Tx-SCD ( P < 0·001). In contrast, Tx-SCD was not different from non-Tx-SCD. Multivariate analysis indicated that endocrinopathy was more likely in Thal than SCD [Odds Ratio (OR) = 9·4, P < 0·001], with duration of chronic transfusion a significant predictor (OR = 1·4 per 10 years of transfusion, P = 0·04). Despite iron overload, endocrinopathy was not increased in Tx-SCD versus non-Tx-SCD, suggesting that the underlying disease may modulate iron-related endocrine injury. However, because transfusion duration remained a significant predictor of endocrinopathy, these data should be confirmed in SCD subjects that have been chronically transfused for longer periods of time. [ABSTRACT FROM AUTHOR]