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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The life expectancy is normal.

Orphanet: Eritrodermia ictiosiforme bolhosa congenita

In the year has been indexed in the Medlinedatabase, and has become a vehicle for expressing conggenita most current Spanish medicine and modern. Diagnostic methods Diagnosis is based on the clinical eritroderjia 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.

The exact prevalence of EI is unknown. 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. The position of the mutation may influence the severity of the phenotype. Detailed information Article for general public Svenska Summary fritrodermia related texts. Electron microscopy shows suprabasal keratinocytes with irregularly shaped keratin intermediate filaments clumps.


The documents contained in this web site are presented for information purposes only. Summary and related texts.

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

Antiseptic washes reduce the bacterial colonization and body odor. Health care resources for this disease Expert centres 78 Diagnostic tests 27 Patient organisations 27 Orphan drug s 4. Prognosis is variable, ranging from confenita to severe especially during the neonatal period due to the risk of sepsis.

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For some patients there is a significant improvement with time but the disease often remains stable over the life, with periods of exacerbation. Ictiosifome genotype-phenotype correlation exists, with palmoplantar involvement being generally associated with KRT1 mutations.

Etiology The disease is caused by mutations in the genes coding for epidermal suprabasal keratins 1 KRT1; 12q Subscriber If you already have your login data, please click here.

The documents contained in this web site are presented for information purposes only. Antenatal diagnosis Prenatal diagnosis is based on DNA ictiosiformd of amniocentesis and chorion villus sampling materials.

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Health care resources for this disease Expert centres 78 Diagnostic tests 24 Patient organisations 27 Orphan drug s 3.

Immunohistochemistry using antibodies directed against TGase 1 or TGase1 enzyme activity measurement is available in dritrodermia centers. InfancyNeonatal ICD To improve our services and products, we use “cookies” own or third parties authorized to show uctiosiforme related to client preferences through the analyses of navigation customer behavior.

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Print Send to a friend Export reference Mendeley Statistics. Management and treatment Treatment is symptomatic. You can change the settings or obtain more information by clicking here.

Keratolytics can be used but are often not tolerated. Eritrodermoa persists into adulthood, with hyperkeratosis of variable intensity and extension.