congenital nonbullous ichthyosiform erythroderma

Pathology

• nonbullous ichthyosis
• abnormal cornification of the epidermis

Genetics

• autosomal recessive
• associated with defects in transglutaminase-1

Clinical manifestations

• most affected individuals are born with a tight, shiny, translucent covering called collodion membrane
• the collodion membrane subsequently evolves into generalized scaling & intense redness of the skin
• clinical features are milder than in lamellar ichthyoses & demonstrate a greater variability in the intensity of erythema, size & type of scales
• in contrast to lamellar ichthyoses, scales are usually white, fine & powdery, & palms & soles are severely affected
• patients suffer from palmoplantar keratoderma, often with painful fissures, digital contractures, & loss of pulp volume

More general terms

• autosomal recessive lamellar ichthyosis

More specific terms

• nonbullous congenital ichthyosiform erythroderma 1

Additional terms

• erythroderma (exfoliative dermatitis)

Database

• OMIM: https://mirror.omim.org/entry/242100
• OMIM: https://mirror.omim.org/entry/190195