Birmingham epidermolysis severity score and vitamin D status are associated with low BMD in children with epidermolysis bullosa

Rodari, Giulia; Guez, Sophie; Manzoni, Francesca; Chalouhi, Katia Khouri; Profka, Eriselda; Bergamaschi, S.; Salera, Simona; Tadini, Gianluca; Ulivieri, Fabio Massimo; Spada, Anna; Giavoli, Claudia; Esposito, Susanna

doi:10.1007/s00198-016-3883-1

Cited by 10 publications

(33 citation statements)

References 31 publications

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“…BMD decrease is a multifactorial process in patients with RDEB. 3,[10][11][12] These results illustrate that although sufficient serum vitamin D levels are important for bone health, it is possible that chronic inflammation, reduced mobility and other nutritional deficiencies such as iron and vitamin K will also play a part in this decline in BMD for patients with RDEB. 19 Vitamin D deficiency in our cohort was due to poor compliance, caused by taste acceptance and/or difficulty purchasing or remembering to take the vitamin D supplements.…”

Section: Discussionmentioning

confidence: 87%

“…3 A number of mechanisms are thought to contribute to the observed low BMD for chronological age seen in RDEB. 3,8,[10][11][12]17 These include reduced mobility, poor nutritional intake, reduced sunlight exposure (from restricted outdoor activities and extensive bandaging), chronic inflammation (because proinflammatory cytokines increase osteoclastic activity) and pubertal delay. 3,8 In addition, gastrointestinal complications may affect the absorption of relevant nutrients.…”

Section: Discussionmentioning

confidence: 99%

“…1,3,[9][10][11] The Institute of Medicine, the European Food Safety Authority, the European Society for Paediatric Gastroenterology, Hepatology and Nutrition and the American Academy of Paediatrics all suggest that a serum 25(OH)D concentration > 50 nmol/ L is adequate for ensuring optimal bone health. 12,13 However, The Endocrine Society Task Force on Vitamin D suggests that higher levels of total 25(OH)D are required for optimum bone health, asserting that individuals are deficient at 50 nmol/L and sufficient at > 75 nmol/L. 14 In our tertiary EB centre, deficiency is defined as a serum 25(OH)D concentration of < 25 nmol/L and insufficiency as < 50 nmol/L.…”

Section: Introductionmentioning

confidence: 99%

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Establishing an appropriate level of vitamin D supplementation in paediatric patients with recessive dystrophic epidermolysis bullosa

Yerlett

Loizou

Bageta

et al. 2022

Clin Experimental Derm

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Summary Background Paediatric patients with recessive dystrophic epidermolysis bullosa (RDEB) are at risk of vitamin D deficiency, owing to lack of sunlight from reduced mobility and having large areas of skin being covered with dressings, and to impaired nutritional intake and status. Aim To establish an appropriate level of vitamin D supplementation in paediatric patients with RDEB. Methods Patients with RDEB attending the EB tertiary multidisciplinary team clinic were enrolled. Serum levels of total 25(OH)D were retrospectively recorded for the study period 2012–2018. Data from clinical records on supplements, bone mineral density (BMD) Z scores, compliance, and use of enteral feeds and/or formula were also recorded. Results In total, 24 patients met the inclusion criteria: 20 with severe RDEB, 3 with RDEB inversa and 1 with intermediate RDEB. Of the 24 patients, 21 (88%) were advised to take a vitamin D3 supplement in line with Department of Health Guidelines (UK), with the remaining 3 patients receiving sufficient intake from formula or enteral feeds. Thirteen of the 24 (54%) had vitamin D deficiency or insufficiency despite advice to supplement; 9 of these 13 (69%) subsequently started or increased the dosage of vitamin D supplements and levels became sufficient (> 50 nmol/L), while the remaining 4 patients (31%) continued to have persistent insufficient levels due to noncompliance with supplements. Reasons for noncompliance were palatability, cost and forgetting to take the tablets. The dose required to maintain sufficient serum levels increased with age, up to 300% of the reference nutrient intake (RNI). Conclusion All patients with RDEB require a supplement or a formula or enteral/sip feed containing vitamin D to maintain sufficient serum vitamin D. The dose required increases with age and can be up to three times higher than the RNI for the normal population. Compliance may improve using a once‐weekly loading dose of vitamin D3. Vitamin D deficiency was not solely causative of a low BMD Z score.

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Section: Discussionmentioning

confidence: 87%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Establishing an appropriate level of vitamin D supplementation in paediatric patients with recessive dystrophic epidermolysis bullosa

Yerlett

Loizou

Bageta

et al. 2022

Clin Experimental Derm

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“…It is widely known that gastrointestinal malabsorption, lack of sun exposure, inadequate nutrition can all interfere with both vitamin D serum levels and adequate peak bone mass [ 28 ], along with limited physical activity and chronic inflammation [ 28 ]. According to the literature, children with DEB and JEB have a lower BMD than subjects with EBS [ 29 ]. Nevertheless, only 3 patients of our population presented osteoporosis.…”

Section: Discussionmentioning

confidence: 99%

Epidermolysis Bullosa in children: the central role of the pediatrician

Marchili

Spina

Roversi

et al. 2022

Orphanet J Rare Dis

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Epidermolysis bullosa (EB) is a severe hereditary disease characterized by defective epithelial adhesion causing mucocutaneous fragility. The major types are EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and more than 35 EB subtypes. Another very rare type of EB is Kindler EB (KEB). Clinically, it is a very heterogeneous disease which ranges from localized to extensive skin lesions with frequent multisystem extra cutaneous involvement. The role of a pediatrician-dermatologist cooperation within a multidisciplinary team is fundamental for both the diagnosis and management contributing to these patients’ better life expectancy. Aim of this study is to describe clinical and laboratory characteristics of the main EB subtypes focusing on nutritional and gastrointestinal aspects, providing information to aid the paediatric management of children with EB. This retrospective study reviewed the cases of 160 pediatric EB patients (76 male and 84 female): 31 patients affected by EBS (mean age ± SD: 4.37 ± 7.14), 21 patients affected by JEB (mean age ± SD: 9.26± 17.30) and 108 with DEB (mean age ± SD: 11.61 ± 13.48). All patients were admitted at the Bambino Gesù Children’s Hospital in Rome, between June 2005 to June 2020. The reduced gastrointestinal absorption, chronic losses, esophageal stenosis and chronic inflammatory state, represent the basis of nutritional problems of EB patients. In particular, anemia represents one of the most important complications of DEB patients which could require transfusion-dependent patterns. Malnutrition, vitamin deficiencies and anemia have been related to growth delay in EB patients. A specific diet with a balance of all macronutrients is required and improving caloric intake with sugar limitations is fundamental to prevent dental caries and tooth decay typical of EB patients. While sepsis proved to be the major cause of morbidity and mortality in younger patients, squamous cell carcinoma was mostly observed in older patients, especially those affected by DEB. Patients with EB require regular monitoring for complications and sequelae with a frequency of evaluations which varies based on age and EB subtypes. Cooperation among medical teams involving paediatricians, dermatologists, specialist clinicians including nutritionists such as families and patient’s association is fundamental to approach the disease and improve the quality of life of these patients.

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“…У детей с ВБЭ недостаточность витамина D может возникнуть в результате нарушения его всасывания в кишечнике [16][17][18], а также при пониженном синтезе в коже ввиду ограничений на пребывание больных на солнце [16]. Как следствие, у детей с ВБЭ наблюдаются нарушение минерального обмена и торможение роста [19]. В этой связи детям с ВБЭ рекомендовано назначать пищевые добавки, содержащие витамин D [2,20].…”

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Vitamin D Provision in Children with Congenital Epidermolysis Bullosa: Cross-Sectional Study

Pronina¹,

Мурашкин

Макарова

et al. 2021

Vopr. sovr. pediatr.

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Background. Children with congenital epidermolysis bullosa (CEB) can have vitamin D deficiency due to its malabsorption in intestine and reduced synthesis in skin as these patients have restrictions on staying in the sun. However, the prevalence of vitamin D insufficiency/deficiency among patients with CEB remains not fully studied due to the small samples' sizes in previously studies. Objective. Our aim was to study vitamin D provision in children with CEB. Methods. The study included children aged from 3 to 18 years old with simplex and dystrophic types of CEB hospitalized in our department. The serum level of 25(OH)D was determined via chemiluminescence immunoassay. Vitamin D deficiency was established at 25(OH)D concentration of 20-30 ng/ml, deficiency — < 10-20 ng/ml, deep deficiency — < 10 ng/ml. Results. The study included 129 children with CEB (62 (48%) males, median age 6 (3; 10) years). 101 patients had dystrophic type of disease, 28 — simplex. The median 25(OH)D serum concentration in children with CEB was 21.7 (13.0; 36.6) ng/ml. Vitamin D insufficiency was revealed in 36 (28%) patients, deficiency — in 38 (29%), deep deficiency — in 16 (12%). Independent predictors of 25(OH)D concentration were the type of CEB (concentration was higher in children with simplex type) and age (negative association), but not the patients' gender and the examination season, according to multivariate regression analysis. Conclusion. The study has shown low level of vitamin D provision in children with CEB, whilst 25(OH)D concentration depended on the type of disease and the age of patients.

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Birmingham epidermolysis severity score and vitamin D status are associated with low BMD in children with epidermolysis bullosa

Cited by 10 publications

References 31 publications

Establishing an appropriate level of vitamin D supplementation in paediatric patients with recessive dystrophic epidermolysis bullosa

Establishing an appropriate level of vitamin D supplementation in paediatric patients with recessive dystrophic epidermolysis bullosa

Epidermolysis Bullosa in children: the central role of the pediatrician

Vitamin D Provision in Children with Congenital Epidermolysis Bullosa: Cross-Sectional Study

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