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DeCS
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Descriptor English:
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Hyperkeratosis, Epidermolytic
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Descriptor Spanish:
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Hiperqueratosis Epidermolítica
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Descriptor Portuguese:
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Hiperceratose Epidermolítica
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Synonyms English:
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Erythroderma Ichthyosiforme, Bullous
Ichthyosiform Erythroderma, Bullous Congenital
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Tree Number:
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C16.131.831.512.400.375
C16.320.850.400.375
C16.614.492.400.375
C17.800.428.333.250.375
C17.800.804.512.400.375
C17.800.827.400.375
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Definition English:
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A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder. |
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See Related English:
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Keratin-1
Keratin-10
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History Note English:
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1993(1979); use ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL 1991-1992; for ERYTHRODERMA ICHTHYOSIFORME, BULLOUS use ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL 1991-1992, use SKIN DISEASES, BULLOUS 1979-1990
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Allowable Qualifiers English:
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Record Number:
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30695
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Unique Identifier:
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D017488
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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