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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Since birth, patients present with fine white-grayish scales of various sizes associated with erythroderma. Management and treatment Management is based on daily applications of emollients.
Differential diagnosis At birth, differential diagnoses include other causes of neonatal erythroderma e. Diagnostic methods Diagnosis is based on vongenita 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. Only comments written in English can be processed.
Histological aspect of the skin is not specific. Some newborns are encased eritrdermia 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.
Other additional clinical features can be observed contenita variable degrees of severity: Skin is usually itchy or painful, and sensitivity may be reduced by the scales.
Keratolytics can be used but are often ictiosiformf tolerated. Health care resources for this disease Expert centres 78 Diagnostic tests 24 Patient organisations 27 Orphan drug s 3. CIE is a genetically heterogeneous disease.
Antenatal diagnosis Prenatal diagnosis is based on DNA analysis of amniocentesis and chorion villus sampling materials. Go to the members area of the website of the AEDV, https: Previous article Next article. 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.
NIPAL4 likely encodes a membrane receptor.
For all other comments, please send your remarks via contact us. The disease is caused by mutations erigrodermia the genes coding for epidermal suprabasal keratins 1 KRT1; 12q This item has received.
Specialised Social Services Eurordis directory. If you are a member of the AEDV: The rest are autosomal dominant cases, more rarely autosomal recessive.
Emollients are often used but their efficacy is limited.
Additional information Further erjtrodermia on this disease Classification s 2 Gene eritrodrrmia 2 Clinical signs and symptoms Publications in PubMed Other website s 5. Prognosis is variable, ranging from mild to severe eritroderjia during the neonatal period due to the risk of sepsis.
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. Continuing navigation will be considered as acceptance of this use. 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. Eritridermia Prognosis is variable, ranging from mild to severe especially during the neonatal period due to the risk of sepsis.
Genetic counseling should be offered to affected families. Detailed information Article for general public Svenska Print Send to a friend Export reference Mendeley Statistics. Check this box if you wish to receive a copy of your message. At birth, differential diagnoses include other causes of neonatal erythroderma e. The disease is transmitted as an autosomal recessive trait.
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The congenira contained in this web site are presented for information purposes only. EI persists into adulthood, with hyperkeratosis of variable intensity and extension. Prenatal diagnosis is based on DNA analysis of amniocentesis and chorion villus sampling materials. The severity of the disease is variable. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. CiteScore measures average citations received per document published.
For all other comments, please send your remarks via contact us. Prognosis The severity of the disease is variable. The exact prevalence of EI is unknown. Subscriber If you already have your login data, please click here.
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.
The diagnosis is based on the clinical appearance of the skin.
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. Etiology CIE is a genetically heterogeneous disease.
Bullous congenital ichthyosiform erythroderma: Genetic counseling The disease is transmitted as an autosomal recessive trait. Immunohistochemistry using antibodies directed against TGase 1 or TGase1 enzyme activity measurement is available in some centers. Are you a health professional able to prescribe or dispense drugs?
Subscribe to our Newsletter. To improve our services and products, we use “cookies” own or third parties authorized to show advertising related to client preferences through the analyses of navigation customer behavior. Disease definition Epidermolytic ichthyosis EI is a rare keratinopathic octiosiforme KPI; see this termthat is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.