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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Immunohistochemistry using antibodies directed against TGase 1 or TGase1 enzyme activity measurement is available in some centers.

At birth, differential diagnoses include other causes of neonatal erythroderma e. Additional information Further information on this disease Classification s 5 Gene s 7 Clinical signs and symptoms Other website s 2.

A genotype-phenotype correlation exists, with palmoplantar involvement being generally associated with KRT1 mutations. Electron microscopy shows suprabasal keratinocytes with irregularly shaped keratin intermediate filaments clumps. Ultrasonography can detect the collodion membrane. Check this box if you wish to receive a copy of your message. Management and treatment Treatment is symptomatic.

For all other comments, please send your remarks via contact us. Keratolytics can be used but are often not tolerated.

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

Specialised Social Services Eurordis directory. 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 ertrodermia the whole body.

Prognosis is variable, ranging from mild to severe especially during the neonatal period due to the risk of sepsis. Diagnosis is based on the clinical picture and on histological examination of conggenita lesion biopsies showing hyperkeratosis with orthokeratosis, hypergranulosis, and cytolysis in the upper stratum spinosum and granular layers epidermolytic hyperkeratosis. The rest are autosomal dominant cases, more rarely autosomal recessive.


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Differential 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. Pemphigus Vegetans in the Inguinal Eritrodrrmia. Skin is often itchy and smelly, and skin infection may occur.

Prognosis The severity of the disease is variable. Emollients are often used but their efficacy is limited. Molecular testing is possible but is not available in general practice. Yellow-brown hyperkeratotic plaques, often associated with mild background erythroderma, develop later, usually in the first months of life. The life expectancy is normal. Other search option s Alphabetical list.

Si continua navegando, consideramos que acepta su uso. Most cases are sporadic. Health care resources for this disease Expert centres 78 Diagnostic tests 24 Patient organisations 27 Orphan drug s 3.

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. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. The documents contained in this web site are presented for information purposes only. The clinical picture can also change over time and in response to treatment. Genetic counseling Most cases are sporadic.


SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact. Epidermolytic ichthyosis EI is a rare keratinopathic ichthyosis KPI; see this termthat is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.

Over time, hyperkeratosis worsens and blister formation decreases but may still eritrodemria following skin trauma or during summer. This item has received. Antenatal diagnosis Prenatal diagnosis is based on DNA analysis of amniocentesis and chorion villus sampling materials. 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. NIPAL4 likely encodes a membrane receptor.

July Pages 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.

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. Hyperkeratosis is most often generalized but some patients have limited skin lesions, especially on joint flexures, ichiosiforme neck, abdominal wall, and infragluteal folds.

Etiology CIE is a genetically heterogeneous disease. Previous article Next article.

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