Cause-Specific Risks of Childhood Death in Inherited Epidermolysis Bullosa

Fine, Jo David; Johnson, Lorraine; Weiner, Madeline; Suchindran, Chirayath

doi:10.1016/j.jpeds.2007.06.039

Cited by 138 publications

(111 citation statements)

References 9 publications

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“…Subclassification is important in determining the risk of mucosal involvement, the development of neoplasias and premature death, and in providing genetic counseling. [10][11][12][13][14] The most commonly requested laboratory test is anatomopathology, which is performed on biopsied material that includes the entire blister. Although this test is inconclusive for a diagnosis of epidermolysis bullosa, it is useful to differentiate it from other bullous dermatoses.…”

Section: Diagnosis Of Epidermolysis Bullosamentioning

confidence: 99%

Imunomapeamento nas epidermólises bolhosas hereditárias

Oliveira

Périgo

Fukumori

et al. 2010

An. Bras. Dermatol.

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Abstract:Immunological mapping, an immunofluorescence technique, is currently the method most used to diagnose and differentiate the principal types of hereditary epidermolysis bullosa, since this technique is capable of determining the level of cleavage of this mechanobullous disease Keywords: Collagen; Epidermolysis bullosa; Laminin; Fluorescence Microscopy Resumo: O imunomapeamento, uma técnica de imunofluorescência, é o método atual mais utilizado para o diagnóstico laboratorial e a diferenciação dos principais tipos de epidermólise bolhosa hereditária, uma vez que determina o plano de clivagem na junção dermo-epidérmica das doenças mecanobolhosas.

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Section: Diagnosis Of Epidermolysis Bullosamentioning

confidence: 99%

Imunomapeamento nas epidermólises bolhosas hereditárias

Oliveira

Périgo

Fukumori

et al. 2010

An. Bras. Dermatol.

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“…Oral mukoza tutulumu infantil ve çocukluk döneminde belirgindir, skar yoktur, diş minesi hipoplazisi vardır. Anemi ve büyüme geriliği, gastrointestinal, genitoüriner ve respiratuar sistem gibi ekstrakutanöz komplikasyonlar daha azdır 19,20 .…”

Section: Jeb Herlitz (Jeb-h)unclassified

“…Skar ve milia oluşumu yoktur. Tırnak tutulumu, diş minesi hipoplazisi, hiperhidroz, dermatoglifik kaybı gözlenebilir [5][6][7][19][20][21] .…”

Section: Non-herlitz Je Progresivaunclassified

Inherited Bullous Diseases

Karaduman¹

2011

Turkderm

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ÖzetEpidermolizis bülloza(EB), deri ve mukozaların frajilitesi ve küçük travmalarla bile bül oluşumu ile karakterize bir grup kalıtsal büllöz hastalığı içerir. Deri frajilitesi ve bül formasyonu epidermis, dermo-epidermal bileşke ve üst dermisde normalde de bulunan çok sayıda proteini kodlayan genlerde mutasyon sonucu oluşur. Epidermolizis bülloza simpleks (EBS), Junktional EB (JEB), distrofik EB ( Sum maryEpidermolysis bullosa (EB), refers to a group of inherited bullous disorders, characterized by fagility of the skin and mucous membranes, and blister formation in response to minor friction or trauma. Skin fragility and bulla formation of EB result from genetic mutations of any of dozen genes that encode structural proteins which normally reside within the epidermis, the dermo-epidermal juntion, or the upper dermis. There are four major type of inherited epidermolysis bullosa: EB simplex (EBS), junctional EB (JEB), dystrophic EB (

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“…1,3 Death may occur during infancy or early childhood due to sepsis, renal failure, upper airway occlusion, or failure to thrive (due to oesophageal stricture). 5,6 Skin biopsy light microscopy examination in EBS reveals separation and blister formation in the epidermal layer (keratinocytes). Examination by immunofluorescent antibody/antigen mapping is the sine qua non for the diagnosis of EBS because of its rapid turnaround time, and high sensitivity and specificity.…”

Section: Case Reportmentioning

confidence: 99%

Epidermolysis bullosae

An¹

2011

Medical Journal Armed Forces India

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normal. A clinical diagnosis of EBS was made. Screening test for congenital syphilis was negative. Skin biopsy (using electron microscopy) from the edge of affected lesion confirmed it to be EBS. There was no similar family history in the past. Supportive management in the form of skin dressing, puncture of blisters, local antiseptic application and careful handling was done. Complete breast feeds was started and genetic counselling was done. The baby is progressing well on regular OPD follow-up. DISCUSSIONEpidermolysis bullosae is a genetic disorder caused by a mutation in the keratin gene. The identified genes include those that encode keratins 5 and 14 in EBS (autosomal recessive), collagen VII in DEB (autosomal recessive and dominant types), and

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Cause-Specific Risks of Childhood Death in Inherited Epidermolysis Bullosa

Cited by 138 publications

References 9 publications

Imunomapeamento nas epidermólises bolhosas hereditárias

Imunomapeamento nas epidermólises bolhosas hereditárias

Inherited Bullous Diseases

Epidermolysis bullosae

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