Conditions / Genetic

epidermolytic hyperkeratosis 2B

info ยท Genetic

An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases that has_material_basis_in homozygous mutation in the KRT10 g

An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases that has_material_basis_in homozygous mutation in the KRT10 geneon chromosome 17q21.

Signs and symptoms

  • Hypergranulosis
  • Generalized hyperkeratosis
  • Epidermal acanthosis
  • Orthokeratosis
  • Keratinocyte vacuolization
  • Erythroderma
  • Congenital nonbullous ichthyosiform erythroderma
  • Cobblestone-like hyperkeratosis
  • Abnormal blistering of the skin
  • Hypernatremic dehydration

Also known as: autosomal recessive epidermolytic hyperkeratosis 2B