Iron status and burden of anemia in children with recessive dystrophic epidermolysis bullosa

Background and Objectives

To describe the prevalence, severity, and management of anemia in a cohort of children with recessive dystrophic epidermolysis bullosa (RDEB) and to highlight the use of soluble transferrin receptor (sTfR) to diagnose iron deficiency in this chronic inflammatory state.

Methods

We studied a cohort of 114 patients with RDEB followed at a pediatric hospital-based Epidermolysis Bullosa Center from 2010 to 2020; data were prospectively tracked in a comprehensive clinical database that captured all visits, laboratory tests, iron infusions, and transfusions. The primary outcome was occurrence of anemia, which was assessed by age and sex, with and without transfusion support. Secondary outcomes included iron status using a combination of ferritin and sTfR levels, the cumulative incidence of parenteral iron therapy and transfusions, and survival.

Results

In RDEB, anemia begins in the first year of life and becomes more frequent and severe with age. The prevalence of iron deficiency anemia (IDA) estimated by ferritin was 33.6% (37/110), but the sTfR/log₁₀-ferritin ratio indicated a 1.5-fold higher true prevalence of IDA of 50.6% (41/81). 53.5% (61/114) received parenteral iron infusions, transfusions, or both. Higher ferritin was associated with earlier mortality.

Conclusions

Individuals with RDEB have a high burden of anemia (IDA and anemia of inflammation) that requires frequent medical interventions. The sTfR/log₁₀-ferritin ratio improves the detection of iron deficiency in the context of inflammation and guides therapy.     

Use of topical morphine gel in epidermolysis bullosa wounds—A series of case studies

In recent years, the use of topical morphine gel has increased in the palliative care setting to reduce pain in chronic wounds and fungating tumours. However, there is a paucity of evidence to support its effectiveness. Epidermolysis bullosa (EB) is a rare genetic skin fragility disorder characterised by painful chronic wounds. Adequate control of wound pain can be challenging in this patient group due to other complexities associated with the more severe sub-types of the disease. Topical morphine gel has been used as an adjunct therapy in a small number of EB patients in our tertiary centre in an attempt to improve pain control and quality of life. The purpose of this paper is to demonstrate the efficacy of topical morphine gel used in a variety of EB wounds as well as patient reported reduction in pain through a series of case studies. The case studies suggest a positive effect of topical morphine gel on painful wounds across a spectrum of EB subtypes.     

Transition of care in patients with epidermolysis bullosa: A survey study

There are little published data on the transition of care in EB. We conducted a survey study recruiting EB patients from the Dystrophic EB Research Association (debra) website and centers caring for high numbers of EB patients in the United States and internationally from Sept 17, 2019 to Nov 3, 2021. The majority of participants had not discussed the transition of care with their healthcare providers, nor the healthcare needs to be required as an adult. Ongoing pediatric subspecialty care was reported by 12% of adults, most commonly in pediatric dermatology. Identified barriers to transition included the perceived lack of adult providers' knowledge about EB patient healthcare needs. The results suggest the need for transition guidelines, early discussions with families about transition, and practical information for the adult providers accepting care.     

临床药师参与中毒性表皮松解症并血流感染的药学实践

目的：通过参与1例药源性中毒性表皮松解症患者的药学治疗实践,体现了临床药师在药源性疾病的识别、处理以及在合并感染治疗中的价值。方法：2019年9月8日鄂尔多斯市中心医院收治1例脑出血后并发严重肺部感染的患者,先后使用头孢哌酮钠舒巴坦钠、替加环素、亚胺培南西司他丁、奥硝唑、阿米卡星等抗感染治疗1月后患者出现了中毒性表皮松解症(Toxic Epidermal Necrolysis ,TEN),继而出现鲍曼不动杆菌和金黄色葡萄球菌菌血症,临床药师结合患者情况及相关文献文献及时的识别该不良反应并处理,针对患者感染提出个体化的治疗建议。结果：临床药师使用特定的ALDEN方法(与常规不良反应评价方法不同)评估引起中毒性表皮松解症(TEN)的药物因果关系的个体评价,协助医师及时停药并建议甲泼尼龙和丙种球蛋白治疗。患者在出现TEN后伴体温升高,1周之内三次不同时期的血培养提示鲍曼不动杆菌和金黄色葡萄球菌,临床药师协助医师判断血培养的价值,建议医师给予利奈唑胺 600mg q12h,全程监护患者情况,经过两周的抗感染治疗,患者皮肤明显好转。结论：临床药师帮助医师识别药源性疾病,并协助医师制定个体化的治疗方案并全程监护,避免了患者再次药源性疾病的发生,充分体现了临床药师在治疗团队中的价值。     

MEBO治疗大疱性表皮松解型药疹临床体会

目的 观察美宝湿润烧伤膏(MEBO)治疗大疱性表皮松解型药疹的疗效.方法 对我院2009年收治的5例大疱性表皮松解型药疹患者采用美宝湿润烧伤膏油纱换药治疗,并配合全身综合治疗.结果 患者受损面积最小者占体表总面积的52％,面积最大者占99％,5例患者均痊愈出院,创面愈合时间最短16 d,最长58 d,无出血、感染.结论 美宝湿润烧伤膏油纱对大疱性表皮松解型药疹具有良好的疗效.     

Fungal ball in concha bullosa as incidentaloma: A case report and the review of the literature

Concha bullosa is an anatomic variant consisting in an enlargement and pneumatization of the middle nasal turbinate. A fungal ball (FB) localized in this structure is an extremely rare disease. This article describes the unusual case of a young patient with an asymptomatic fungal mass in the concha bullosa, incidentally discovered at computed tomography (CT) scan of the head, which was performed after trauma.