Disease definition. Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility. Epidermolysis bullosa (EB) is a group of inherited bullous disorders characterized by blister formation in response to mechanical trauma. EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT, INCLUDED. EPIDERMOLYSIS BULLOSA DYSTROPHICA.

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These lesions were provoked by the trauma of eating and reduced food intake, which exacerbated constipation caused by anal blisters and resulted in malnutrition. The role of human skin collagenase in epidermolysis bullosa. All patients had oral involvement, including ankyloglossia, loss of tongue papillae, and obliteration of the oral vestibule between the bullksa and gingiva.

Clinical Synopsis Toggle Dropdown. Standard Therapies Treatment By definition, inherited EB is a genetically transmitted disorder characterized by marked fragility of the skin.

Recessive dystrophic epidermolysis bullosa: Hoffman first described an autosomal dominant form of epidermolysis bullosa see also von Verschuer, Oral involvement of recessive dystrophic epidermolysis bullosa inversa. Collagen VII is a very large molecule kDa that dimerizes to form a semicircular looping structure: One recipient died at days after transplant from graft rejection and infection.

Injection of genetically engineered fibroblasts corrects regenerated human epidermolysis bullosa skin tissue.

Rare Disease Database

The chronic inflammatory state seen in recessive dystrophic epidermolysis bullosa RDEB may cause Small fiber peripheral neuropathy SFN ; [3] RDEB patients have reported the sensation of pain in line with neuropathic pain qualities.

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Basic science of epidermolysis bullosa and diagnostic and molecular characterization: Seven patients had features of both dominant and recessive forms of disease and were found to carry both dominant and recessive mutations.


Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.

The eyes xystrophica the genitourinary tract can also be affected. Remaining fibrils were hypoplastic and reduced in diameter.

Novel glycine substitution mutations in Bullsa reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic. The same mutation was found in 3 affected individuals from an unrelated Scottish family with dominant epidermolysis bullosa dystrophica. Epidermolysis bullosa dystrophica, AD. Recessive Dystrophic Epidermolysis Bullosa Inversa The inversa subtype of autosomal recessive dystrophic epidermolysis bullosa is a rare variant characterized by lesions involving primarily the flexural areas of the epidermolyxis with sparing of the fingers and toes Wright et al.

Lucky, MD or Richard G. Please consider making a donation now and again in the future. For further information contact the following: We are determined to keep this website freely accessible. Healing of blisters is associated with atrophic or, more rarely, hypertrophic scarring, albopapuloid lesions, milia formation and dystrophic dystrophhica.

Skin lesions, forming spontaneously or in response to friction, may show a generalized or a localized distribution, particularly on the hands, feet or pretibial areas. Heterozygous carriers of the GR allele had normal skin but isolated toenail dystrophy, also called nonsyndromic congenital nail dystrophy-8 NDNC8; Loosely-fitted, padded shoes are generally better tolerated.

Management with intensive lubricant buloosa, soft-bandage contact lenses, and cataract extraction successfully restored her sight. Epidermolysis bullosa simplex superficialis: The other patient had a similar clinical course.

Oral and gastrointestinal manifestations of epidermolysis bullosa.

Epidermolysis Bullosa – NORD (National Organization for Rare Disorders)

Clinical Synopsis Toggle Dropdown. Prenatal Diagnosis Anton-Lamprecht et al. Phenytoin, which was found to inhibit synthesis or secretion of collagenase, had been thought to be effective in the systemic treatment of RDEB Bauer et al.


Epidermolysis bullosa dystrophica is a clinically heterogeneous disorder characterized by blistering and scarring buklosa the skin and mucous membranes in response to mechanical force. In addition to scarring, milia, mucous membrane involvement and nail dystrophy, common manifestations include malnutrition, anemia, esophageal strictures, growth retardation, webbing or fusion of buplosa fingers and toes causing mitten deformity pseudosyndactyly with loss of function, development of contractures, malformation of teeth, microstomia and corneal abrasions.

The authors reviewed the spectrum of COL7A1 mutation and genotype-phenotype correlations, noting that patients with severe recessive DEB tended to have truncating mutations, whereas those with milder dominant DEB tended to have glycine substitutions. Unlike parent cells from these patients, the gene-corrected cells had normal morphology, proliferative potential, matrix attachment, and motility.


On the basis of an analysis of patients with epidermolysis bullosa of various types, Travis et al. OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. Despite rapidly deteriorating renal function, dialysis was deemed impossible because epidegmolysis her extensive cutaneous infection.

A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa. The documents contained in this web site are presented for information purposes only.