EPIDERMOLISIS AMPOLLOSA SIMPLE PDF

Mejoría de epidermolisis ampollosa simple con tetraciclina: un ejemplo de ensayo clínico de paciente único en dermatología Improvement of simple bullous . Epidermolysis bullosa signs and symptoms vary depending on type. They include . Use soft clothing that’s simple to get on and off. It may help. Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin friction on the skin, followed by a simple (i.e., one-layer) dressing.

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University of Washington, Seattle; October 7, ; Last Update: Epidermolysis bullosa simplex EBS is characterized by fragility of the skin and mucosal epithelia in some cases that results in non-scarring blisters and erosions caused by minor mechanical trauma.

The current classification of epidermolysis bullosa EB includes two major types and 17 minor subtypes of EBS; all share the common feature of blistering above the dermal-epidermal junction at the ultrastructural level. The phenotypes for these subtypes range from relatively mild blistering of the hands and feet to more generalized blistering, which can be fatal. The diagnosis of epidermolysis bullosa simplex EBS is established in a proband by the identification of biallelic pathogenic variants in EXPH5 or TGM5 or heterozygous or rarely biallelic pathogenic variants in KRT5 or KRT14 by molecular genetic testing ; examination of a skin biopsy using immunofluorescence microscopy and transmission electron microscopy may be considered but can have limitations in the diagnosis of EBS.

Supportive care to protect the skin from blistering; use of dressings that will not further damage the skin and will promote healing of open wounds. Lance and drain new blisters. Dressings involve three layers: Prevention of primary manifestations: Keratolytics and softening agents for palmar plantar hyperkeratosis may prevent tissue thickening and cracking. Prevention of secondary complications: Nutritional support and feeding therapy may be necessary for infants and children with oral manifestations of EBS.

Management of fluid and electrolyte problems in severely affected infants. Appropriate footwear and physical therapy may preserve ambulation in children who have difficulty walking because of blistering and hyperkeratosis. Excessive heat may exacerbate blistering and infection.

EBS caused by pathogenic variants in KRT5 or KRT14 is usually inherited in an autosomal dominant manner, but in rare families especially those with consanguinity it can be inherited in an autosomal recessive manner.

Molecular genetic testing for at-risk family members and prenatal testing for pregnancies at increased risk are possible if the pathogenic variant s in the family are known. View in own window. For synonyms and outdated names see Nomenclature. The diagnosis of epidermolysis bullosa simplex EBS should be suspected in individuals with the following clinical findings:.

Examination of a skin biopsy using immunofluorescence microscopy and transmission electron microscopy see Skin biopsy below may be considered but can have limitations in the diagnosis of EBS. Molecular testing approaches can include serial single- gene testinguse of a multigene paneland more comprehensive genomic testing.

Serial single- gene testing. For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here. Such testing may provide or suggest a diagnosis not previously considered e.

Orphanet: Epidermolisis ampollosa simple tipo Koebner

For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here. Genes and Databases for chromosome locus and protein. See Molecular Genetics for information on allelic variants detected in this gene. Sequence analysis detects variants that are benign, likely benign, of uncertain significancelikely pathogenic, or pathogenic. For issues to consider in interpretation of sequence analysis results, click here.

Methods used may include: Yasukawa et al []Rugg et al []Bolling et al []. A common founder variant in the catalytic domainp.

GlyCyshas been found in the European population. Two individuals with features of EBS caused by biallelic pathogenic variants in DSTencoding dystonin, have been reported [ Groves et alLiu et al ].

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Immunofluorescence antigenic mapping has been the sine qua non for the diagnosis of EBS because of its rapid turnaround time and high sensitivity and specificity [ Yiasemides et al ]. However, advances in molecular genetic testing have lead clinicians to use genetic testing for diagnosis, as opposed to skin biopsy.

Skin biopsy should still be considered in the evaluation of newborns with extensive blistering and erosions, in cases where the EB phenotype is not clear and a prompt diagnosis wpidermolisis needed, and when genetic testing smiple not available. Although it is now recognized that these phenotypes are part of a continuum with overlapping features, it is reasonable to continue to think of EBS in terms of the phenotypes in order to provide affected individuals with information about the expected clinical course.

The clinical features of these disorders are summarized in Table 2.

Blisters begin in infancy and can present at birth; severity is usually mild. The first episodes may occur on the knees and shins with crawling or on the feet at approximately age months, after epdermolisis is firmly established. Some affected individuals do not manifest the disease until adolescence or early adult life. Although blisters are usually confined to the hands and feet, they can occur anywhere given adequate trauma; for example, blisters eidermolisis develop on the buttocks after horseback riding and around the waist after wearing a tight belt.

The palms and soles are usually more involved than the backs of the hands and the tops of the feet. Symptoms are worse in warm weather and worsen with sweating. Hyperkeratosis of the palms and soles can develop in later childhood and adult life. Occasionally, a large blister in a nail bed may result in shedding of the nail. Blisters may be present at birth or develop within the first few months of life. EBS-gen intermed is distinguished from EBS-loc by its more widespread involvement and from EBS-sev gen by absence of clumped keratin intermediate filaments in basal keratinocytes on electron microscopy see Establishing the DiagnosisSkin biopsy.

Small hyperpigmented macules begin to appear in early childhood, progress over time, and coalesce to a reticulate pattern. Hypopigmented macules may be interspersed. These changes tend to develop on the trunk particularly in large skin folds such as the neck, groin, and axillae and then on the extremities.

The pigmentation does not occur in epdiermolisis of blistering a factor distinguishing it from post-inflammatory hyperpigmentation and hypopigmentation and often disappears in adult life. Focal palmar and plantar hyperkeratoses may occur.

Onset is usually at birth and severity varies greatly both within and between families. Blistering can be severe enough to result in neonatal or infant death. Hemorrhagic blisters are common. The mucosa can be involved; this usually improves with age. Decreased frequency of blistering occurs during mid- to late childhood and blistering may be a minimal component of the disorder in adult life.

Progressive hyperkeratosis punctate or diffuse of the palms and soles begins in childhood and may be the major complaint of affected individuals in adult life. Nail dystrophy thickened, deformed nails is common. Both hyper- and hypopigmentation can occur, typically in areas of blistering. Mucosal involvement in EBS-gen sev may interfere with feeding. Laryngeal involvement, manifesting as a hoarseness, can also occur, but is not life threatening.

Clinical overlap between EBS-gen intermed and EBS-gen sev is substantial; thus, much of the molecular genetic data have been lumped in the literature and the proportions presented in the table are necessarily imprecise.

Hamada et al []Horiguchi et al []. Pathogenic variants in EXPH5 are rare, with only seven cases reported to date. All reported pathogenic variants resulting in EXPH5- related EBS are loss-of-function variants that can be located anywhere in the gene.

Epidermolisis ampollosa simple pdf

Disease severity may be influenced by other factors and may show intrafamilial variation [ Indelman et al ]. InKoebner coined the term epidermolysis bullosa hereditaria. In the late nineteenth and early twentieth centuries, Brocq and Hallopeau coined the terms traumatic pemphigus, congenital traumatic blistering, and acantholysis bullosa; these terms are no longer in use [ Fine et al ].

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The nomenclature for EBS has changed four times in the last fifteen years. The most recent classification system, referred to as the “onion skin” terminology, arose from the most recent international consensus meeting, the recommendations of which were published in June [ Fine et al ].

This classification system expands on the histologic description and specific pathogenic variants found in affected individuals see Table 4. The prevalence of EBS is uncertain; estimates range from 1: EBS-loc is most prevalent as it does not result in neonatal death and interferes least with fitness.

Horn and colleagues estimate a prevalence of No phenotypes other than those discussed in this GeneReview are known to be associated with pathogenic variants in EXPH5.

Dowling-Degos disease DDDcharacterized by progressive and disfiguring reticulate hyperpigmentation of the flexures, is caused by heterozygous KRT5 loss-of-function variants [ Betz et alLiao et al ]. Galli-Galli disease, a variant of DDD that exhibits the same hyperpigmentation pattern accompanied by acantholytic lesions, is also caused by heterozygous KRT5 loss-of-function variants [ Sprecher et alHanneken et al ].

Inheritance is autosomal dominant. Naegeli-Franceschetti-Jadassohn syndrome NFJS and dermatopathia pigmentosa reticularis DPR are phenotypically similar simpl dysplasia syndromes characterized by complete absence of dermatoglyphics fingerprint linesa reticulate pattern of skin hyperpigmentation, thickening of the palms and soles palmoplantar keratodermaabnormal sweating, and other subtle developmental anomalies of the teeth, hair, and skin.

The condition is characterized by skin peeling in an acral distribution i. Some affected individuals do in fact have blisters and occasionally this condition can be confused with EBS caused by a heterozygous pathogenic variant in KRT5 or KRT Classification into major type is based on the location epiderrmolisis blistering in relation to the dermal-epidermal junction of skin.

Subtypes are predominantly determined by clinical features and supported by molecular diagnosis. The four major types of EB share easy fragility of the skin and mucosa in many casesmanifested by blistering with little or no trauma.

Epidermolysis bullosa – Wikipedia

Although clinical examination is useful in determining the extent of blistering and the presence of oral and other mucous membrane lesions, defining characteristics such as the presence and extent of scarring — especially in young children and neonates — may not be established or significant enough to allow identification of EB type; thus, molecular genetic testing or less commonly skin biopsy is usually required to establish the most precise diagnosis.

The ability to induce blisters with friction eoidermolisis the amount of friction can vary and to enlarge blisters by applying pressure to the blister edge is common to all; mucosal and nail involvement and the presence or absence of milia may not be helpful discriminators.

Post-inflammatory changes, such as those ampkllosa in EBS-sev gen, are often mistaken for scarring or mottled pigmentation. Scarring simppe occur in simplex and junctional EB as a result of infection of erosions or scratching, which further damages the exposed surface. Congenital absence of the skin can be seen in any of the four major types of EB and is not a discriminating diagnostic feature.

In milder cases, scarring especially of the dorsal hands and feet suggests DEB. Pseudosyndactyly mitten deformities resulting from ampolllosa of the hands and feet in older children and adults usually suggests DEB. The classification system divides EBS into two subtypes based on the location of apmollosa in the epidermis.