Autosomal recessive epidermolytic ichthyosis

Orpha code: 512103OMIM code:

Definicja

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
Klasyfikacja

Disease

Synonimy
AREI
AREI
Kod ORPHA
512103
Kod OMIM
-
Kod ICD10
-
Kod ICD11
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl