Nutritional outcome in children with severe generalized recessive dystrophic epidermolysis bullosa: a short- and long-term evaluation of gastrostomy and enteral feeding

Colomb, V.; Bourdon-Lannoy, E.; Lambe, Cécile; Sauvat, Frédérique; Hadj‐Rabia, Smail; Teillac, D.; Prost, Y. De; Bodemer, Christine

doi:10.1111/j.1365-2133.2011.10592.x

Cited by 37 publications

(50 citation statements)

References 29 publications

(90 reference statements)

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“…Insensible losses and thermal dysregulation from chronic wounds leads to a hypercatabolic inflammatory state requiring an increased calorie intake (19). As a result, the severity of EB often correlates with malnutrition and so RDEB patients often have an inadequate nutrition with growth retardation commonly seen in at least half of all children with RDEB (19).…”

Section: Current Management: Symptoms and Complicationsmentioning

confidence: 99%

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Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa

Rashidghamat

McGrath

2017

IRDR

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Section: Current Management: Symptoms and Complicationsmentioning

confidence: 99%

“…As a result, the severity of EB often correlates with malnutrition and so RDEB patients often have an inadequate nutrition with growth retardation commonly seen in at least half of all children with RDEB (19). One consequence of inadequate nutrition is pubertal delay and short stature.…”

Section: Current Management: Symptoms and Complicationsmentioning

confidence: 99%

Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa

Rashidghamat

McGrath

2017

IRDR

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“…very severe and chronic oral lesions or oesophageal strictures not susceptible to dilation treatment) and/or presenting loss in weight and height of at least 1 standard deviation compared with their best growth level, despite regular nutritional advice. Starting GTF before malnutrition onset also reduces the problems linked to the choice of the button device and to the insertion site dehiscence [89-91]. A regular surveillance is necessary in order to prevent and/or early treat the possible local complications (chronic wound and infection).…”

Section: Care Of the Eb Newborn And Infantmentioning

confidence: 99%

“…The use of anti-secretory and anti-acid drugs (e.g. ranitidine or proton pump inhibitors) is recommended to treat gastro-oesophageal reflux and also to prevent skin damage due to gastric acid leakage at gastrostomy site [91]. GTF also easies the supply of micronutrients (iron, zinc, selenium, vitamins), nutritional supplements or drugs.…”

Section: Care Of the Eb Newborn And Infantmentioning

confidence: 99%

Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa

Hachem

Zambruno

Bourdon-Lanoy

et al. 2014

Orphanet J Rare Dis

143

136

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BackgroundInherited epidermolysis bullosa (EB) comprises a highly heterogeneous group of rare diseases characterized by fragility and blistering of skin and mucous membranes. Clinical features combined with immunofluorescence antigen mapping and/or electron microscopy examination of a skin biopsy allow to define the EB type and subtype. Molecular diagnosis is nowadays feasible in all EB subtypes and required for prenatal diagnosis. The extent of skin and mucosal lesions varies greatly depending on EB subtype and patient age. In the more severe EB subtypes lifelong generalized blistering, chronic ulcerations and scarring sequelae lead to multiorgan involvement, major morbidity and life-threatening complications. In the absence of a cure, patient management remains based on preventive measures, together with symptomatic treatment of cutaneous and extracutaneous manifestations and complications. The rarity and complexity of EB challenge its appropriate care. Thus, the aim of the present study has been to generate multicentre, multidisciplinary recommendations on global skin care addressed to physicians, nurses and other health professionals dealing with EB, both in centres of expertise and primary care setting.MethodsAlmost no controlled trials for EB treatment have been performed to date. For this reason, recommendations were prepared by a multidisciplinary team of experts from different European EB centres based on available literature and expert opinion. They have been subsequently revised by a panel of external experts, using an online-modified Delphi method to generate consensus.ResultsRecommendations are reported according to the age of the patients. The major topics treated comprise the multidisciplinary approach to EB patients, global skin care including wound care, management of itching and pain, and early diagnosis of squamous cell carcinoma. Aspects of therapeutic patient education, care of disease burden and continuity of care are also developed.ConclusionThe recommendations are expected to be useful for daily global care of EB patients, in particular in the community setting. An optimal management of patients is also a prerequisite to allow them to benefit from the specific molecular and cell-based treatments currently under development.

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“…Dietary intake is often restricted due to oral scarring, dental caries, and esophageal strictures, and nutritional requirements are greater in severe EB due to insensible losses and thermal dysregulation from chronic wounds contributing to a hypercatabolic inflammatory state. 25 As a result, the severity of EB often correlates with the degree of energy and protein malnutrition that can impact negatively on the wound healing potential.…”

Section: Eb Chronic Woundsmentioning

confidence: 99%

Management of chronic wounds in patients with dystrophic epidermolysis bullosa: challenges and solutions

Rashidghamat¹,

Mellerio²

2017

CWCMR

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Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of severe inherited blistering diseases that affects 500,000 individuals worldwide. Clinically, individuals with EB have fragile skin and are susceptible to blistering following minimal trauma and show involvement of mucus membrane and other organs in some subtypes. Dystrophic EB (DEB) is divided into 2 major types depending on the inheritance pattern: recessive DEB (RDEB) and dominant DEB (DDEB). RDEB tends to be at the more severe end of the clinical spectrum and has a prevalence of 8 per 1 million of the population, accounting for approximately 5% of all cases of EB. RDEB is caused by loss-of-function mutations in the type VII collagen gene, COL7A1, which leads to reduced or absent type VII collagen (C7) and structurally defective anchoring fibrils at the dermal-epidermal junction. In this review, we will discuss the management of chronic wounds in individuals with DEB, highlighting the changes to practice and the novel therapies that may offer a solution to this debilitating and complex problem which is one of the greatest sources of morbidity in this disease.

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Nutritional outcome in children with severe generalized recessive dystrophic epidermolysis bullosa: a short- and long-term evaluation of gastrostomy and enteral feeding

Abstract: Malnutrition was observed in 50% of the children with generalized RDEB. Protein and energy needs are particularly high. GTF is well tolerated and helps with catch-up growth and puberty. It must be considered before malnutrition onset, and, if necessary, before puberty.

Cited by 37 publications

References 29 publications

Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa

Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa

Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa

Management of chronic wounds in patients with dystrophic epidermolysis bullosa: challenges and solutions

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