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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Only comments written in English can be processed. The material is in no way intended ictiosiformr replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Other features may include hypohidrosis, scalp scaling and nail dystrophy.
Coongenita all other comments, please send your remarks via contact us. Health care resources for this disease Expert centres 78 Diagnostic tests 27 Patient organisations 27 Orphan drug s 4. NIPAL4 likely encodes a membrane receptor. 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 eritrodrrmia on a background of erythematous skin over the whole body.
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.
The severity of the disease is variable. The clinical picture varies widely among patients with variable degrees in the severity of erythema and in citiosiforme size of scales observed. Palmoplantar involvement is seen in some patients.
Diagnostic methods The diagnosis is based on the clinical appearance of the skin. The clinical picture can also change over time and in response to treatment. Si continua navegando, consideramos que acepta su uso. 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.
Antiseptic washes reduce the bacterial colonization and body odor. Epidermolytic ichthyosis EI is a rare keratinopathic ichthyosis KPI; see this termthat is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic. Specialised Social Services Eurordis directory. Previous article Next article.
Repositório do Hospital Prof. Doutor Fernando Fonseca: Eritrodermia ictiosiforme congénita
Prognosis is variable, ranging from mild to severe especially during the neonatal period due to the erirtodermia of sepsis. 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.
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 eritodermia of erythematous skin over the whole body. Specialised Social Services Eurordis directory. The disease is caused by mutations in the genes coding for epidermal suprabasal keratins 1 KRT1; 12q Electron microscopy shows suprabasal keratinocytes with irregularly shaped keratin intermediate filaments clumps.
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It is due to mutations in one of the following genes: Summary and related texts. Continuing navigation will be considered as acceptance of this use.
Immunohistochemistry using antibodies directed against TGase 1 or TGase1 enzyme activity measurement is available in some centers.
EI persists into adulthood, with hyperkeratosis of variable intensity and extension. 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.
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Genetic testing confirms the diagnosis. 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. SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject eritroedrmia.
Print Send to a friend Export reference Mendeley Statistics. If you are a member of the AEDV: Differential diagnosis At birth, differential diagnoses include other causes of neonatal erythroderma e.
Check this box if you wish to receive a copy of ictiosivorme message. Prognosis Prognosis is variable, ranging from mild to severe especially during the neonatal period due to the risk of sepsis.
Orphanet: Eritrodermia ictiosiforme congenita n o bolhosa
Other additional clinical features can be observed in variable degrees of severity: There is no clear genotype-phenotype correlation. The life expectancy is normal. Diagnostic methods 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.
Management and treatment Eritroderma is based on daily applications of emollients. Management is based on daily applications of emollients. Etiology CIE is a genetically heterogeneous disease. The rest are autosomal dominant cases, more rarely autosomal recessive. 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.
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.