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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A number sign is used with this entry because autosomal dominant epidermolysis bullosa dystrophica DDEB is caused by heterozygous mutation in the type VII collagen gene COL7A1; on chromosome 3p Focal palmoplantar keratoderma with oral mucosal hyperkeratosis Focal palmoplantar and gingival keratosis Howel—Evans syndrome Pachyonychia congenita Pachyonychia congenita type I Pachyonychia congenita type II Striate palmoplantar keratoderma Tyrosinemia type II punctate: Stem cell transplant therapy trials for recessive dystrophic epidermolysis bullosa are being conducted at at least two institutions.
Two of the families were consanguineous. Echocardiographic screening of 18 other patients with recessive dystrophic epidermolysis bullosa showed no evidence of cardiomyopathy. Treatment for iron deficiency anemia is often necessary. Autosomal dominant epidermolysis bullosa dystrophica: In 1 family, the proband was a year-old woman who was noted to have blisters at birth. Affected individuals have an increased risk of developing aggressive squamous cell carcinoma Christiano et al. Type VII collagen deposition could be detected in skin biopsies after treatment, but anchoring fibrils never appeared normal.
Blistering may be localized to the hands, feet, elbows and knees or it may be generalized.
Epidermolysis bullosa dystrophica
Other features included fusion of all fingers and toes into mittenlike deformities and severe contractures of all 4 limbs. There are four main types with additional sub-types identified. The disorder was of the severe Hallopeau-Siemens form in 5 families and the generalized nonmutilating form in 1. Zur Klinik und Genetik der dominant-dystrophischen Epidermolysis bullosa hereditaria.
Affected individuals in a second family showed blistering tendency from birth that continued through childhood and diminished slightly with age.
The eyes and the genitourinary tract can also be affected. In the family with 3 affected sibs epieermolysis which linkage studies excluded the involvement of the collagenase locus on 11q22, Hovnanian et al. Squamous cell carcinoma is the leading cause of death in EB usually occurring after the 2nd decade of life.
Epidermolysis Bullosa – NORD (National Organization for Rare Disorders)
Oral involvement of recessive dystrophic epidermolysis bullosa inversa. A regular follow-up with complete skin checks and biopsies is necessary for the surveillance of SCC development. Progress in epidermolysis bullosa: If blisters develop from the seams of clothing, garments may be worn inside-out and tags, cuffs and necklines may be removed. Prenatal diagnosis of genetic disorders of the skin by means of electron microscopy.
All patients had oral involvement, including ankyloglossia, loss of tongue papillae, and obliteration of the oral vestibule between the lips and gingiva. Although a second pathogenic mutation was not identified, the authors presenting convincing evidence that the disorder was recessive in both cases. Patients with RDEB-sev gen are at high risk of mortality primarily from metastatic SCC, less frequently from chronic renal failure and dilated cardiomyopathy. Antenatal diagnosis Prenatal genetic diagnosis can be performed for at-risk pregnancies by direct or indirect linkage analysis DNA mutational analysis if the causal mutation has been identified or not in the family respectively.
Summary and related texts. Other entities represented in this entry: Evidence for a functional defect of the lamina lucida in recessive dystrophic epidermolysis bullosa demonstrated by suction blisters. Transfusions, iron supplementation, and erythropoietin administration improve anemia and iron deficiency.
Collagenase expression in skin fibroblasts from families with recessive dystrophic epidermolysis bullosa. The molecular data suggested that the subcorneal cleavage observed in different members of this kindred would likely not be pathogenic or contribute to the disease process. Unlike parent cells from these dystrophiac, the gene-corrected cells had normal morphology, proliferative potential, matrix attachment, and motility. For rare forms of DEB with a late onset, differential diagnosis includes acquired skin disorders such as lichen planus.
A number sign is used with this entry because autosomal recessive dystrophic epidermolysis bullosa RDEB and the RDEB localisata variant bullsoa caused by homozygous or compound heterozygous mutation in the gene encoding type VII collagen COL7A1; on chromosome 3p Restoration of type VII collagen expression and function in dystrophic epidermolysis bullosa.
Human type VII collagen: The blistering primarily affected the extremities and resulted in the formation of scars and milia. Mutations in this gene dystrophicq the function, reduce or disrupt the production of collagen VII. C ] – See also dominant DEBan allelic disorder with a less severe phenotype.
Autosomal recessive epidermolysis bullosa dystrophica is an allelic disorder.
Clinical description The clinical picture varies widely, ranging from mild to severe. One patient had finger web scarring that required surgical correction and also had mild syndactyly of toes. Clinical Synopsis Toggle Dropdown. During the neonatal period and infancy it may also include aplasia cutis congenita, herpes simplex infection, xystrophica ichthyosis, bullous impetigo, staphylococcal scalded skin syndrome, linear IgA bullous dermatosis, bullous pemphigoid, neonatal pemphigus and pemphigoid gestationis see these terms.
Histologic examination via light and electron microscopy revealed blister formation and scarring beneath the epithelial basement membrane of both the skin and cornea, confirming the diagnosis of RDEB. Ueber den erbgang bei epidermolysis bullosa hereditaria.
These lesions were provoked by the trauma of eating and reduced food intake, which exacerbated constipation caused by anal blisters and resulted in malnutrition.
In an African American family in which 4 individuals related as first cousins once removed had autosomal recessive epidermolysis bullosa dystrophica, Christiano et al. Common findings include scarring, milia tiny white bumpsmucous membrane involvement, and abnormal or absent nails.
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. There is also a rare acquired autoimmune disorder called epidermolysis bullosa aquisita.