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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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.
Other search option s Alphabetical list. The disease is caused by mutations in the genes coding for epidermal suprabasal keratins 1 KRT1; 12q 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.
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. Additional information Further eritrodermoa on this disease Classification s 2 Gene s 2 Clinical signs and symptoms Publications eritrodemria PubMed Other website s 5.
Antiseptic washes reduce the bacterial colonization and body odor. Health care resources for this disease Expert centres 78 Diagnostic tests 24 Patient organisations 27 Orphan drug s 3.
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Prognosis The severity of the disease is variable. Continuing navigation will be considered as acceptance eritrodermiz this use. Conenita microscopy shows suprabasal keratinocytes with irregularly shaped keratin intermediate filaments clumps. Other search option s Alphabetical list. For some patients there is a significant improvement with time but the disease often remains stable over the life, with periods of exacerbation.
Check this box if you wish to receive a copy of your message. Most cases are sporadic. The clinical picture can also change over time and in response to treatment.
Prognosis is variable, ranging from mild to severe especially during the neonatal period due to the risk of sepsis. The clinical picture varies widely among patients with variable degrees in the severity of erythema and in the size of scales observed.
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. The diagnosis is based on the clinical appearance of the skin. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. 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.
InfancyNeonatal ICD EI persists into adulthood, with hyperkeratosis of variable intensity and extension.
Orphanet: Eritrodermia ictiosiforme bolhosa congenita
Only comments written in English can be processed. 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.
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. Molecular testing is possible but is not available in general practice. Epidermolytic ichthyosis EI is a rare keratinopathic ichthyosis KPI; see this termthat is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.
Since birth, patients present with fine white-grayish scales of various sizes associated with erythroderma. Specialised Social Services Eurordis directory.
Palmoplantar involvement is seen in some patients.
Management is based on daily applications of emollients. Summary and related texts.
This item has received. Antenatal diagnosis Prenatal diagnosis is based on DNA analysis of amniocentesis and chorion villus sampling materials. Differential diagnosis At birth, differential diagnoses include other causes of neonatal erythroderma e. Antibiotic therapy is required in cases of bacterial infection. Subscribe to our Newsletter. In the year has been indexed in the Medlinedatabase, and has become a vehicle for expressing the erifrodermia current Spanish medicine and modern.
Genetic counseling Most cases are sporadic. Genetic testing confirms the diagnosis. SNIP ictiosifkrme contextual citation impact by wighting citations based on the total number of citations in a subject field.
Repositório do Hospital Prof. Doutor Fernando Fonseca: Eritrodermia ictiosiforme congénita
For all other comments, please send your remarks via contact us. Check this box if you wish to receive a copy of your message. Other additional clinical features can be observed in variable degrees of severity: Over time, hyperkeratosis worsens and blister formation decreases but may still occur following skin trauma or during summer. Yellow-brown hyperkeratotic plaques, often associated with mild background erythroderma, develop later, usually in the first months of life.
From Monday to Friday from 9 a. 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. There is no clear genotype-phenotype correlation. Summary and related texts.
Subscriber If you already have your login data, please click here. 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. Health care resources for this disease Expert centres 78 Diagnostic tests 27 Patient organisations 27 Orphan drug s 4. Histological aspect of the skin is not specific.