Keratosis Linearis–Ichthyosis Congenita– Sclerosing Keratoderma

  • Proteasome Maturation Protein POMP gene mutation 
  • Autosomal recessive inheritance

  • Proteasome deficit leads to altered terminal epidermal differentiation and profilaggrin abnormalities

  • Mild congenital ichthyosis, diffuse and transgredient palmoplantar keratoderma, digital constriction bands, digit flexion deformity, sclerosis, parallel keratotic papules along flexors, squamous cell carcinoma

Pathology: 

  • Orthohyperkeratosis, focal parakeratosis, acanthosis, hypergranulosis, abnormal keratohyalin granules
  • Positive filaggrin immunostaining of the cornified layer

  • Unknown