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congenital reticular ichthyosiform erythroderma

Disease Summary
Associated Targets (2)
Tbio

2


Uniprot Description A rare skin condition characterized by slowly enlarging islands of normal skin surrounded by erythematous ichthyotic patches in a reticulated pattern. The condition starts in infancy as a lamellar ichthyosis, with small islands of normal skin resembling confetti appearing in late childhood and at puberty. Histopathologic findings include band-like parakeratosis, psoriasiform acanthosis, and vacuolization of keratinocytes with binucleated cells in the upper epidermis, sometimes associated with amyloid deposition in the dermis. Ultrastructural abnormalities include perinuclear shells formed from a network of fine filaments in the upper epidermis.
Mondo Term and Equivalent IDs
MONDO:0012208:  congenital reticular ichthyosiform erythroderma
MESH:C563781: 
Orphanet:281190: 
SCTID:703504006: 
UMLS:C3665704: