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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Patients with RDEB-sev gen are at high risk of mortality primarily from metastatic SCC, less frequently from chronic renal failure and dilated cardiomyopathy.
Epidermolysis bullosa dystrophica
Last Update Nov 4, Although both families had some clinical features of the Pasini type, there was considerable interfamilial and intrafamilial variability. The same family had other members affected with a form of cerebellar ataxia of postpubertal onset. Pigmentation disordersTemplate: In the absence of mutations of the COL7A1 genean autoimmune response against type VII collagen can result in an acquired form of epidermolysis epiidermolysis called epidermolysis bullosa acquisita.
Aplasia cutis congenita Amniotic band syndrome Branchial cyst Cavernous venous malformation Accessory nail of the fifth toe Bronchogenic cyst Congenital cartilaginous rest of the neck Congenital hypertrophy of the lateral fold of the hallux Congenital lip pit Congenital malformations of the dermatoglyphs Congenital preauricular fistula Congenital smooth muscle hamartoma Cystic lymphatic malformation Median raphe cyst Melanotic neuroectodermal tumor of infancy Mongolian spot Nasolacrimal duct cyst Omphalomesenteric duct cyst Poland anomaly Rapidly involuting congenital hemangioma Rosenthal—Kloepfer syndrome Skin dimple Superficial lymphatic malformation Thyroglossal duct cyst Verrucous vascular malformation Birthmark.
The unaffected mother and half-brother were heterozygous for the mutation. Light microscopy of the white papules showed immature-appearing collagen bundles and deposition of amorphous material in the upper half of the dermis that stained with Alcian blue. Three of the 5 arginine substitutions e.
CC HPO: Histopathologic examination of affected skin showed blister formation below the basal lamina, and electron microscopy of nonblistered skin showed a paucity of anchoring fibrils at the subbasal lamina region.
A number sign is used with this entry because autosomal recessive dystrophic epidermolysis bullosa RDEB and the RDEB localisata variant are caused by homozygous or compound heterozygous mutation in the gene encoding type VII collagen COL7A1; on chromosome 3p The unaffected parents were each heterozygous for 1 of the mutations.
Collagen VII is a very large molecule kDa that dimerizes to form a semicircular looping structure: Junctional epidermolysis bullosa Laryngoonychocutaneous syndrome.
Zur Klinik und Genetik der dominant-dystrophischen Epidermolysis bullosa hereditaria. Disease definition Dystrophic epidermolysis bullosa DEB is a form of inherited epidermolysis bullosa EB characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation.
Anton-Lamprecht ; Book ; Davison ; Didolkar et al.
Orphanet: Dystrophic epidermolysis bullosa Epidermolysis bullosa dystrophica
Clinical Synopsis Toggle Dropdown. In affected members of a large 5-generation Finnish family reported by Ryynanen et al. Microscopic examination of the skin shows cleavage below the basement membrane within the papillary dermis. EBS may be localized to dystrophida hands and feet or there may be a generalized distribution, with relatively mild internal involvement.
Open wounds on the skin heal slowly or not at all, often scarring extensively, and are particularly susceptible to infection. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. They also suffer from iron-deficiency anemia of uncertain origin, which leads to chronic fatigue.
Although there was clinical variability in the severity and distribution of skin involvement, none of the patients showed pronounced digital webbing, severe generalized blistering, or growth retardation characteristic of Hallopeau-Siemens DEB.
Inherited Abnormalities of the Skin and its Appendages. By definition, inherited EB is a genetically transmitted disorder characterized by marked fragility of the skin.
Epidermolysis bullosa dystrophica – Wikipedia
Diagnosis is suspected at clinical examination. Older patients had multiple erosions, scarring, mitten deformities of the hands from fusion, and joint contractures. Squamous cell carcinoma is the leading cause of death in EB usually occurring after the 2nd decade of life.
Dystrophie cutanee buleuse atrophiante et albo-papuloide.
Prenatal Diagnosis Anton-Lamprecht et al. At age 17 years, she developed multiple white albopapuloid lesions on her back, consistent with the Pasini variant.
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 of the larynx and trachea: Two families were compound heterozygous for a glycine substitution and a premature termination mutation see, e. The cells appeared to ba hematopoietic in origin, but their identity could dystgophica be fully determined.
Type Bulloda collagen deposition could be detected in skin biopsies after treatment, but anchoring fibrils never appeared normal.
Copyright, University of Washington, Seattle. EB ranges from being a minor inconvenience requiring modification of some activities, to being completely disabling and, in some cases, fatal.
The documents contained in this web site are presented for information purposes only. The mutation had previously been identified in 3 other families with dominant DEB, 1 Italian, 1 Hungarian, and 1 Systrophica.
However, clinical features included blisters, milia, bulllosa scarring, nail dystrophy, and oral and conjunctival involvement, as seen in dystrophic EB. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
There is also a rare acquired autoimmune disorder called epidermolysis bullosa aquisita. Investigational Therapies Stem cell transplant therapy trials for recessive dystrophic epidermolysis bullosa are being conducted at at least two institutions.