Inherited epidermolysis bullosa: New diagnostic criteria and classification

Intong, Lizbeth R.A.; Murrell, Dédée F.

doi:10.1016/j.clindermatol.2011.03.012

Cited by 140 publications

(112 citation statements)

References 20 publications

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“…It is synthesized and secreted by both epidermal keratinocytes and dermal fibroblasts and undergoes a multistep process of proteolytic maturation and supramolecular assembly to form anchoring fibrils, which secure strong attachment of the epidermis to the underlying dermis (14). Abnormalities of the anchoring fibrils are associated with dystrophic EB, a form of skin fragility in which blisters and wounds heal with scarring (15)(16)(17). Its most severe form -generalized recessive dystrophic EB (RDEB), resulting from complete absence of COL7A1 -presents with repeated blistering, wounding, and soft tissue fibrosis leading to disabling deformities (17,18).…”

Section: Introductionmentioning

confidence: 99%

Collagen VII plays a dual role in wound healing

Nyström¹,

Velati²,

Mittapalli³

et al. 2013

J. Clin. Invest.

184

168

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Although a host of intracellular signals is known to contribute to wound healing, the role of the cell microenvironment in tissue repair remains elusive. Here we employed 2 different mouse models of genetic skin fragility to assess the role of the basement membrane protein collagen VII (COL7A1) in wound healing. COL7A1 secures the attachment of the epidermis to the dermis, and its mutations cause a human skin fragility disorder coined recessive dystrophic epidermolysis bullosa (RDEB) that is associated with a constant wound burden. We show that COL7A1 is instrumental for skin wound closure by 2 interconnected mechanisms. First, COL7A1 was required for re-epithelialization through organization of laminin-332 at the dermal-epidermal junction. Its loss perturbs laminin-332 organization during wound healing, which in turn abrogates strictly polarized expression of integrin α6β4 in basal keratinocytes and negatively impacts the laminin-332/integrin α6β4 signaling axis guiding keratinocyte migration. Second, COL7A1 supported dermal fibroblast migration and regulates their cytokine production in the granulation tissue. These findings, which were validated in human wounds, identify COL7A1 as a critical player in physiological wound healing in humans and mice and may facilitate development of therapeutic strategies not only for RDEB, but also for other chronic wounds.

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Section: Introductionmentioning

confidence: 99%

Collagen VII plays a dual role in wound healing

Nyström¹,

Velati²,

Mittapalli³

et al. 2013

J. Clin. Invest.

184

168

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“…In that way, for EB individuals, the physical condition -limited mouth opening and contracture of the fingers -could be added as etiological factors for dental caries to the classical ones already described. 20,21 Finally, EB is considered as a rare disease, 4,5,22 and because of that, there is a lack of information derived from clinical trials on oral health performed in a large group of subjects. Therefore, although the sample size of the present investigation is a limitation of this study, we believe that the outcomes obtained herein can contribute to the current knowledge about the influence of EB on the oral health status of individuals who present the disease.…”

Section: Discussionmentioning

confidence: 99%

Higher Dental Caries Prevalence and Its Association with Dietary Habits and Physical Limitation in Epidermolysis Bullosa Patients: A Case Control Study

Leal¹,

Lia²,

Amorim³

et al. 2016

The Journal of Contemporary Dental Practice

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Aim: Epidermolysis bullosa (EB) represents a highly rare subgroup of skin diseases that affects skin and mucous membrane. The aim of the present study was to assess caries prevalence and its associated factors in EB subjects. Salivary status was also assessed. Materials and methods:Ten subjects with EB who were under supervision were selected (cases) and matched by age and gender with unaffected individuals (controls). Dental caries were recorded using the World Health Organization (WHO) criteria. Oral hygiene and dietary habits were investigated by clinical examination and questionnaires. Both nonstimulated and stimulated saliva were collected and salivary pH, buffering capacity and mouth opening were evaluated. Results:The results showed that the median decay-missingfilled teeth was significantly higher (p = 0.0094) in EB cases 5 (3.9-20.3) than in controls 3 (2-3.25). The groups also differed when food consistency was analyzed. Individuals with EB have a higher intake of soft food. In addition, the median mouth-opening values from cases (0.84-2.84 cm) and controls (4.3-4.9 cm) have shown to be statistically different (p = 0.007). Considering the salivary parameters, none of them showed significant differences among groups. Higher Dental Caries Prevalence and Its Association with Dietary Habits and Physical Limitation in Epidermolysis Conclusion:Epidermolysis bullosa subjects present higher caries scores and might be related to their physical condition and dietary habits. Clinical significance:There is a lack of information about oral status in EB subjects. Hence, our findings add useful information regarding the relationship between caries prevalence and associated risk factors in EB subjects.

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“…В настоящее вре-мя выделяют два основных типа ПБЭ (локальный и генерализованный) и 12 подтипов. Клинические проявления могут варьировать от легкой локаль-ной формы (высыпания располагаются преиму-щественно на кистях и стопах) до тяжелой гене-рализованной формы, приводящей к летальному исходу [1,[4][5][6][7]. Промежуточный буллезный эпидермолиз (ПоБЭ, JEB) имеет аутосомно-рецессивный тип наследования и включает в себя мутации в ге-нах, кодирующих синтез плектина, коллагена XVII типа, α6β4-интегрина или одну из трех цепей ла-минина-332, что вызывает нарушение формиро-вания гемидесмосом и фиксации соединительных волокон.…”

Section: классификация и клинические проявленияunclassified

“…В обоих случаях заболевание развивается вследствие мутации в гене, отвечаю-щем за синтез коллагена VII типа (COL7A1). Бул-лы при этом образуются между базальной мем-браной и дермой [1,3,[7][8][9].…”

Section: классификация и клинические проявленияunclassified

“…В на-стоящий момент БЭ относят к группе редких ге-нетических болезней, обусловленных мутациями в генах, кодирующих строение белков кератино-цитов и дермоэпидермальной пластинки. Мута-ции вызывают изменения в структуре белков, от-ветственных за адгезию между слоями дермы, что и приводит к образованию булл [1,2].…”

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Dystrophic epidermolysis bullosa associated with congenital contractures of the upper and lower limbs: literature review

Agranovich

Евгеньевна²,

Buklaev

et al. 2015

Pediatr Traum Orthop Reconstr Surg

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Буллезный эпидермолиз (БЭ)-это редкое наследственное заболевание, его главный признак -образование пузырей и мокнущих ран (эрозий) на коже и слизистых оболочках, возникающих при незначительном травмировании. Клинические проявления заболевания могут варьировать от локализованных пузырей на руках и стопах до генерализованных высыпаний по всему кожному покрову, а также с поражением слизистой оболочки внутренних органов. В настоящее время выделено четыре основные группы БЭ: простой, промежуточный, дистрофический и синдром Киндлера. Мутации вызывают изменения в структуре белков, ответственных за адгезию между слоями дермы, что и приводит к образованию везикул. Лечение БЭ представляет собой сложную задачу вследствие отсутствия возможности прямого воздействия на патогенез заболевания, и его основной целью является купирование существующих кожных проявлений и предотвращение появления новых элементов. В статье приводится описание основных типов БЭ, видов современной диагностики и лечения заболевания, а также представлен клинический случай редкого сочетания двух тяжелых патологий -дистрофического буллезного эпидермолиза и артрогрипоза с поражением верхних и нижних конечностей.Ключевые слова: буллезный эпидермолиз, артрогрипоз, сгибательные контрактуры конечностей.

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Inherited epidermolysis bullosa: New diagnostic criteria and classification

Cited by 140 publications

References 20 publications

Collagen VII plays a dual role in wound healing

Collagen VII plays a dual role in wound healing

Higher Dental Caries Prevalence and Its Association with Dietary Habits and Physical Limitation in Epidermolysis Bullosa Patients: A Case Control Study

Dystrophic epidermolysis bullosa associated with congenital contractures of the upper and lower limbs: literature review

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