Eritrodermia ictiosiforme congénita ampollosa: a propósito de un caso. Bullous congenital ichthyosiform erythroderma: a case report. Nuria Romero Maldonado . Request PDF on ResearchGate | Eritrodermia ictiosiforme congénita no ampollosa asociada a pénfigo vegetante. Presentación de caso | Background: The. Request PDF on ResearchGate | On Jan 1, , J.R. Antônio and others published Eritrodermia ictiosiforme congênita bolhosa.
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The disease is caused by mutations in the genes coding for epidermal suprabasal keratins 1 KRT1; 12q Check this box if you wish to receive a copy of your message. Antiseptic washes reduce the bacterial colonization and body odor. Molecular testing is possible but is not available in general practice. Infants present at birth, or shortly after, with generalized erythroderma, severe blistering, mild scaling, eritrdoermia superficial skin erosions at sites of minor trauma and flexural areas.
Prognosis is variable, ranging from mild to severe especially during the neonatal period due to the risk of sepsis. The documents eeitrodermia in this web site are presented for information purposes only.
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Genetic counseling should be offered to affected families. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.
Disease definition Congenital ichthyosiform erythroderma CIE is a variant of autosomal recessive congenital ichthyosis ARCI; see this terma rare eritrodermla disease, characterized by fine, whitish scales on a background of erythematous skin over the whole iictiosiforme. InfancyNeonatal ICD Emollients ictlosiforme often used but their efficacy is limited. Ictiosirorme diagnosis At birth, differential diagnosis includes toxic epidermal necrolysis, inherited epidermolysis bullosa, incontinentia pigmenti or herpetic infection, while in later stages it includes other KPIs such as superficial EI and ichthyosis hystrix of Curth Macklin see these terms.
Genetic counseling The disease is transmitted as an autosomal recessive trait. Detailed information Article for general public Svenska Additional information Further information on this disease Classification s 2 Gene s 2 Clinical signs and symptoms Publications in PubMed Other website s 5.
Later in life, differential diagnosis includes syndromic forms of icthyosis, harlequin ichthyosis, lamellar ichthyosis, congenital reticular ichthyosiform erythroderma, and peeling skin syndrome see these terms. Keratolytics can be used but are often not tolerated.
Skin is often itchy and smelly, ictiosifor,e skin infection may occur. Detailed information Article for general public Svenska Diagnostic methods Diagnosis is based on the clinical picture and on histological examination of skin lesion biopsies showing hyperkeratosis with orthokeratosis, hypergranulosis, and cytolysis in the upper stratum spinosum and granular layers epidermolytic hyperkeratosis. It is due to mutations in one of the following genes: Clinical description Infants present at birth, or shortly after, with generalized erythroderma, severe ictjosiforme, mild scaling, and superficial skin erosions at sites of minor trauma and flexural areas.
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Orphanet: Eritrodermia ictiosiforme bolhosa congenita
All articles are subjected to a rigorous process of revision in pairs, and careful editing for literary and scientific style. Most mutations are found in the TGM1 gene encoding transglutaminase 1, involved in the formation of the epidermal cornified cell envelope.
The life expectancy is normal. Most cases are sporadic. Management and treatment Treatment is symptomatic. A clinical variant of EI, annular EI see this termshows an annular distribution of polycyclic erythematous scales that generally develop on the trunk and extremities and that tend to resolve.
Previous article Next article. Etiology CIE is a genetically heterogeneous disease. Si continua navegando, consideramos que acepta su uso. SRJ is a prestige metric based on the idea that not all citations are the same.
Some newborns are encased in a mild collodion membrane taut, shiny, translucent membrane appearing as an extra skin layer and develop scales and erythroderma once the membrane has been shed. Topical keratolytics or oral acitretin for severe forms can improve hyperkeratotic lesions, but are associated with adverse effects such as skin fragility and worsening of blistering. Other features may include hypohidrosis, scalp scaling and nail dystrophy. Are you a health professional able to prescribe or dispense drugs?
Electron microscopy shows suprabasal keratinocytes with irregularly shaped keratin intermediate filaments clumps. Eritrdermia comments written in English can be processed. CiteScore measures average citations received per document published. Histological aspect of the skin is not specific. Bullous congenital ichthyosiform erythroderma: Continuing navigation will be considered as acceptance of this use.
For all other comments, please send your remarks via contact us. The exact prevalence of EI is unknown. Immunohistochemistry using antibodies directed against TGase 1 or TGase1 enzyme activity efitrodermia is available in some centers.
Clinical description Since birth, patients present with fine white-grayish scales of various sizes associated with erythroderma. At birth, differential diagnosis includes toxic epidermal necrolysis, inherited epidermolysis bullosa, incontinentia pigmenti or herpetic infection, while in later stages it includes other KPIs such as superficial EI and congenuta hystrix of Curth Macklin see these terms.
eritrodermia ictiosiforme congénita – English Translation – Word Magic Spanish-English Dictionary
SNIP measures contextual citation impact eritrofermia wighting citations based on the total number of citations in a subject field. Etiology The disease is caused by mutations in the genes coding for epidermal suprabasal keratins 1 KRT1; 12q The clinical picture can also change over time and in response to treatment.
Hyperkeratosis is most often generalized but some patients have limited skin lesions, especially on joint flexures, anterior neck, abdominal wall, and infragluteal folds. Subscriber If you already have your login data, please click here. Antenatal diagnosis Genetic antenatal diagnosis is available.