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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EI persists into adulthood, with hyperkeratosis of variable intensity and extension. CIE is a genetically heterogeneous disease. Since birth, patients present with fine white-grayish scales of various sizes associated with erythroderma. Skin is usually itchy or painful, and sensitivity may be reduced by the scales. Management and treatment Management is based on daily applications of emollients. Prognosis Prognosis is variable, ranging from mild to severe especially during the neonatal period due to the risk of sepsis.

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. Growth failure may be seen in severe cases. Specialised Social Services Eurordis directory. Histological aspect of the skin is not specific. SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact. 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.

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Other additional clinical features can be observed in variable degrees of severity: From Monday to Friday from 9 a. Antenatal diagnosis Prenatal diagnosis is based on DNA analysis of amniocentesis and chorion villus sampling materials. 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.


At birth, differential diagnoses include other causes of neonatal erythroderma e. Etiology CIE is a genetically heterogeneous disease. The clinical picture can also change over time and in response to treatment.

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Most mutations are found in the TGM1 gene encoding transglutaminase 1, involved in the formation of the epidermal cornified cell envelope. The diagnosis is based on the clinical appearance of the skin. Epidermolytic ichthyosis EI is a rare keratinopathic ichthyosis KPI; see this termthat is characterized by ictiosivorme blistering phenotype at birth which progressively becomes hyperkeratotic.

Genetic counseling The disease is transmitted as an autosomal recessive trait. Subscriber If you already have your login data, please click here. Summary and related texts. Additional information Further information on this disease Eritrodermoa s 2 Gene s 2 Clinical signs and symptoms Publications in PubMed Other website s 5. There is no clear genotype-phenotype correlation.

Only comments written in English can be processed. NIPAL4 likely encodes a membrane receptor. Keratolytics can be used but are often not tolerated. Immunohistochemistry using antibodies directed against TGase 1 or TGase1 enzyme activity measurement is available in some centers. For all other comments, please send your remarks via contact us. Palmoplantar involvement is seen in some patients. 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.

Summary and related texts. 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. Electron microscopy shows suprabasal keratinocytes with irregularly shaped keratin intermediate filaments clumps.

Detailed information Article for general public Svenska Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. 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.

Orphanet: Eritrodermia ictiosiforme congenita n o bolhosa

For some patients there is a significant improvement with time but the disease often remains stable over the life, with periods of exacerbation. A genotype-phenotype correlation exists, with palmoplantar involvement being generally associated with KRT1 mutations. Infants present at birth, or shortly after, with ictioisforme erythroderma, severe blistering, mild scaling, and superficial skin erosions at sites of minor trauma and flexural areas.


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.

The rest are autosomal dominant cases, more rarely autosomal recessive. To improve our services and products, we use “cookies” own or third parties authorized to show advertising related to client preferences through the analyses ictiosifoorme navigation customer behavior. Over time, hyperkeratosis worsens and blister formation decreases but may still occur following skin trauma or during summer.

If you are a member of the AEDV: Hyperkeratosis is most often generalized but some patients have limited skin lesions, especially on joint flexures, anterior neck, abdominal wall, and infragluteal folds.

Genetic counseling should be offered to affected families.

Health care resources for this disease Expert centres 78 Diagnostic tests 24 Patient organisations 27 Orphan drug s 3. Genetic counseling Most cases are sporadic. 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.

Yellow-brown hyperkeratotic plaques, often associated with mild background erythroderma, develop later, usually in the first months of life. The severity of the disease is variable. Go to the members area of the website of the AEDV, https: