nonbullous congenital ichthyosiform erythroderma 1

Genetics

• mutation in gene for
  • transglutaminase-1 gene
  • 12R-lipoxygenase
  • epidermis-type lipoxygenase 3

Clinical manifestations

• prominent erythroderma
• fine white, superficial, semiadherent scales
• 90% of affected individuals present at birth as collodion babies
• palmoplantar keratoderma
• painful fissures
• digital contractures,
• loss of pulp volume
• nail dystrophy
  • ridging
  • subungeal hyperkeratosis
  • hypoplasia

More general terms

• congenital nonbullous ichthyosiform erythroderma

Additional terms

• epidermis-type lipoxygenase 3; e-LOX-3 (ALOXE3)
• transglutaminase-1, keratinocyte transglutaminase, epidermal transglutaminase, or transglutaminase-K

Database

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