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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Detailed information Article for general public Svenska Prognosis is variable, ranging from mild to severe especially during the neonatal period due to the risk of sepsis. Continuing navigation will be considered as acceptance of this use. Growth failure may be seen in severe cases. Histological aspect of the skin is not specific. The clinical picture can also change over time and in response to treatment. The position of the mutation may influence the severity of the phenotype.

The severity of the disease is variable. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Management and treatment Treatment is symptomatic. Subscriber If you already have your login data, please click here.

Go to the members area of the website of the AEDV, https: Other ictisiforme may include hypohidrosis, scalp scaling and nail dystrophy. Immunohistochemistry using antibodies directed against TGase 1 or TGase1 enzyme activity measurement is available in some centers. To improve our services and products, we use “cookies” own or third parties authorized to show advertising related to editrodermia preferences through the analyses of navigation customer behavior. Prognosis Prognosis is variable, ranging from mild to severe especially during the neonatal period due to the risk of sepsis.


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eritrodermia ictiosiforme congénita – English Translation – Word Magic Spanish-English Dictionary

Bullous congenital ichthyosiform erythroderma: Genetic testing confirms the diagnosis. Etiology CIE is a genetically heterogeneous disease. Palmoplantar involvement is seen in some patients.

Prenatal diagnosis is based on DNA analysis of amniocentesis and chorion villus sampling materials. The disease is caused by mutations in the genes coding for epidermal suprabasal keratins 1 KRT1; 12q Clinical description Since birth, patients present with fine white-grayish scales of various sizes associated with erythroderma.

Other search option s Alphabetical list. Molecular testing is possible but is not available in general practice. Management is based on daily applications of emollients. There is no clear genotype-phenotype correlation. Si continua navegando, consideramos que acepta su uso. 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.

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. Diagnosis is based on the clinical picture and on ictiosoforme examination of skin lesion biopsies showing hyperkeratosis with orthokeratosis, hypergranulosis, and cytolysis in the upper stratum spinosum and granular layers epidermolytic hyperkeratosis.

For some patients there is a significant improvement with time but the disease often remains stable over the life, with periods of exacerbation. Genetic counseling Most cases are sporadic. Differential diagnosis At birth, differential diagnoses include other causes of neonatal erythroderma e.

Diagnostic methods The diagnosis is based on the clinical appearance of the skin. Over time, hyperkeratosis conenita and blister formation decreases but may still occur following skin trauma or during summer. It is due to mutations in one of the following genes: Additional information Further information on this disease Classification s 2 Gene s 2 Clinical signs and symptoms Publications in PubMed Other website ictioiforme 5.


The rest are autosomal dominant cases, more rarely autosomal recessive.

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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. Health care resources for this disease Expert centres 78 Diagnostic tests 24 Patient organisations 27 Orphan drug s 3.

The clinical picture varies widely among patients with variable degrees in the severity of erythema and in the size of scales observed.

NIPAL4 likely encodes a membrane receptor. 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.

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At birth, differential diagnoses include other causes of neonatal erythroderma e. Keratolytics can be used but are often not tolerated. Eeitrodermia life expectancy is normal. Epidermolytic ichthyosis EI is a rare keratinopathic ichthyosis KPI; see this termthat is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic. Skin is usually itchy or painful, and sensitivity may be reduced by the scales.