In , Koebner coined the term epidermolysis bullosa hereditaria. In the late nineteenth and early twentieth centuries, Brocq and Hallopeau. Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized Epidermolysis bullosa hereditaria; Hereditary epidermolysis bullosa. Inherited epidermolysis bullosa (EB) encompasses a number of disorders Disease name: epidermolysis bullosa EB hereditaria.

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Epidermolysis bullosa

A chronic autoimmune inflammatory disorder characterized by the formation of subepidermal blisters in the skin and the mucous membranes. The disorder occurs in every racial and ethnic group and affects both sexes. In addition, soaking the hands and feet in salt water helps soften hyperkeratosis and ease debridement of the thick skin.

Health care resources for this disease Expert centres 94 Diagnostic tests Patient organisations 43 Orphan drug s Methods used may include: TGM5 is a transglutaminase involved in crosslinking of the cornified epithelium; the p. Epidermolysis bullosa simplex in Japanese and Korean patients: TGM5 encodes a bp cDNA with 13 exons and two major alternately spliced transcripts; the v2 form omits exon TGM5 encodes the transglutaminase 5 enzyme, which is strongly expressed in the herevitaria granular cells, where it crosslinks a variety of structural proteins in the terminal differentiation of the epidermis to form the cornified cell envelope the outermost layer.

Orphanet: Inherited epidermolysis bullosa

Individuals with severe forms of autosomal dominant EBS usually have a de novo pathogenic variant. Pregnancy Bulloea If a fetus is known to be affected with any form of EB, caesarean delivery may reduce the trauma to the skin during delivery. An autosomal recessive inherited skin disorder caused by mutations in bulloss genes encoding keratins 5 and 14, collagen VII or laminin 5. Retrieved 6 April Dyskeratosis as a histologic feature in epidermolysis bullosa simplex-Dowling Meara.

Lance and drain new blisters.

Epidermolysis bullosa – Wikipedia

Turcan et al []. By using this site, you agree to the Terms of Use and Privacy Policy. Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa epidermollisis. Nail dystrophy and milia are common. Definition NCI An autosomal recessive inherited skin disorder caused by mutations in the genes encoding keratins epidermoljsis and 14, collagen VII or laminin 5. Genetic basis of Bart’s syndrome: Pathogenic variants in EXPH5 are rare, with only seven cases reported to date.


Onset is usually at birth and severity varies greatly both within and between families. Pigmentation disordersTemplate: Epidermis bullosa pruriginosa and Albopapuloid epidermolysis bullosa Pasini’s disease are rare subtypes of this disease. Additional nutritional support may be required for failure to thrive in infants and children with EBS-gen sev or EBS-gen intermed who have more severe involvement. Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex.

Management and treatment Optimal patient management requires a multidisciplinary approach, and revolves around the protection of susceptible tissues against trauma, use of sophisticated wound care dressings, aggressive nutritional support, and early medical or surgical interventions to correct the extracutaneous complications, whenever possible.

Related Bing Images Extra: It typically affects the hands and feet, and is typically inherited in an autosomal dominant manner, affecting the keratin genes KRT5 and KRT Form of epidermolysis bullosa characterized by trauma-induced, subepidermal blistering with no family history of the disease.

Variations from this GeneReview in ClinVar. In EBS-gen sev, the keratin intermediate filaments also called tonofilaments are clumped, a finding that serves as a distinguishing feature [ Bergman et al ]. The mechanism of disease is dependent on the variant, but often gain-of-function variants result in protein that prevents proper association with the protein partner krt5-krt14 and assembly of those associated dimers into bundles and fibers.

Retrieved 11 October More detailed information for clinicians ordering genomic testing can be found here.

Less than one person per million people is estimated to have this form of epidemolysis bullosa. Epidermolysis bullosa is inherited and usually starts at birth.


The prevalence of EBS is uncertain; estimates range from 1: Content is updated monthly with systematic literature reviews and conferences. In two different highly consanguineous families with autosomal dominant EBS, offspring homozygous for a pathogenic missense variant have been reported. Molecular testing approaches can include serial single- gene testinguse of a multigene paneland more comprehensive genomic testing.

Prognosis varies considerably and is based on both EB subtype and the overall health of the patient. Search Bing for all related images. Retrieved 16 May It is appropriate to offer genetic counseling including discussion of potential risks to offspring and reproductive options to young adults who are affected or at risk of being heterozygous for an EBS-related pathogenic variant. Naegeli-Franceschetti-Jadassohn syndrome NFJS and dermatopathia pigmentosa reticularis DPR are phenotypically similar ectodermal dysplasia syndromes characterized by complete absence of dermatoglyphics fingerprint linesa reticulate buloosa of skin hyperpigmentation, thickening epixermolisis the palms and soles palmoplantar keratodermaabnormal sweating, and other subtle developmental anomalies of the teeth, hair, and skin.

Blisters begin in infancy and can present at birth; severity is usually mild. If a fetus is known to be affected with any form of EB, caesarean delivery may reduce the trauma to the skin during delivery.


The broad classification of JEB is divided into generalized and localized major subtypes with subordinate phenotypic subtypes. Although blisters are usually confined to the hands and feet, they can occur anywhere given adequate trauma; for example, blisters can develop on the buttocks after horseback riding and around the waist after wearing a tight belt.

Death within the first days after birth secondary to profound fluid and electrolyte imbalance is common. Tetracycline and epidermolysis bullosa simplex: