Autosomal recessive epidermolytic ichthyosis

Orpha code: 512103OMIM code:

Definition

A rare, inherited, non-syndromic ichthyosis characterized by congenital, generalized erythroderma with cutaneous blistering and erosions, resembling collodion presentation at birth, replaced by progressive hyperkeratosis later in life without palmoplantar involvement. The ultrastructural pathology consists of sparse keratin filaments and keratin clumps that show a nearly homogeneous, amorphous structure.

Disease data
Classification

Disease

Synonyms
AREI
AREI
ORPHA code
512103
OMIM code
-
ICD10 code
-
ICD11 code
-

No additional description.

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