ERITRODERMIA ICTIOSIFORME CONGENITA PDF
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.
|Published (Last):||25 November 2016|
|PDF File Size:||19.21 Mb|
|ePub File Size:||2.41 Mb|
|Price:||Free* [*Free Regsitration Required]|
CiteScore measures average citations received per document published. In the year has been indexed in the Medlinedatabase, and has become a vehicle for expressing the most current Spanish medicine and modern.
You can change the settings or obtain more information by clicking here. EI persists into adulthood, with hyperkeratosis of variable intensity and extension. Infants present at birth, or shortly after, with generalized erythroderma, severe blistering, mild scaling, and superficial skin erosions at sites of minor trauma and flexural areas. Check this box if you wish to receive a copy of your message. For all other comments, please send your remarks via contact us. Skin is often itchy and smelly, and skin infection may occur.
Since birth, patients present with fine white-grayish scales of various sizes associated icctiosiforme erythroderma. Histological aspect of the skin is not specific.
The documents contained in this web site are presented for information purposes only. The disease is caused by mutations in the genes coding for epidermal suprabasal keratins 1 KRT1; 12q Disease definition Epidermolytic ichthyosis EI is a rare keratinopathic ichthyosis KPI; see this termthat is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic. A genotype-phenotype correlation exists, with palmoplantar involvement being generally associated with KRT1 mutations.
The documents contained in this web site are presented for information purposes only. Subscriber If you already have your login data, please click here. Congenital ichthyosiform erythroderma CIE is a variant of autosomal recessive congenital ichthyosis ARCI; see this terma rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.
Genetic counseling should eritrosermia offered to affected families. Summary and related texts. The clinical picture varies widely among patients with variable degrees in the severity of erythema and in the size of scales observed.
Repositório do Hospital Prof. Doutor Fernando Fonseca: Eritrodermia ictiosiforme congénita
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. Growth failure may be seen in severe cases.
InfancyNeonatal ICD Diagnosis is based on the eritrodrrmia picture and on histological examination of skin lesion biopsies showing hyperkeratosis with orthokeratosis, hypergranulosis, and eritrodremia in the upper stratum spinosum and granular layers epidermolytic hyperkeratosis. Clinical description Infants present at birth, or shortly after, with generalized erythroderma, severe blistering, mild scaling, and superficial skin erosions at sites of minor trauma and flexural areas.
Bullous congenital ichthyosiform erythroderma: Print Send to a friend Export reference Mendeley Statistics. Go to the members area of the website of the AEDV, https: The disease has a strong impact on the quality of life due to the altered physical appearance, the troublesome symptoms, and the constraints due to disease and the treatment.
Orphanet: Eritrodermia ictiosiforme bolhosa congenita
Keratolytics can be used but are often not tolerated. Other features may include hypohidrosis, scalp scaling and nail dystrophy. Later in life, differential diagnosis includes syndromic forms of icthyosis, ictiosiforem ichthyosis, lamellar ichthyosis, congenital reticular ichthyosiform erythroderma, and peeling skin syndrome see these terms. Diagnostic methods The diagnosis is based on the clinical appearance of the skin.
CIE is a genetically heterogeneous disease. Si continua navegando, consideramos que acepta su uso. July Pages Hyperkeratosis is most often generalized but some patients have limited skin lesions, especially on joint flexures, anterior neck, abdominal wall, and infragluteal folds. Disease definition Congenital ichthyosiform erythroderma CIE is a variant of autosomal recessive congenital ichthyosis ARCI; see this terma rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.
There was a problem providing the content you requested
Previous article Next article. All articles are subjected to a rigorous process of revision in pairs, and careful editing for literary and scientific style.
Specialised Social Services Eurordis directory.
Detailed information Article for general public Svenska Check this box if you wish to receive a copy of your message. Antibiotic therapy is required in cases of bacterial infection. Antenatal diagnosis Genetic antenatal diagnosis is available. Yellow-brown hyperkeratotic plaques, often associated with mild background erythroderma, develop later, usually in the first months of life.