Autosomal Syndromic Ichthyosis

Netherton Syndrome

  • Beginning: Birth.
  • Clinical picture: Severe.
  • Syndromic: It does affect other organs.

Netherton Syndrome is a rare disease characterized by the association of ichthyosis, a structural alteration of the hair shaft and atopic dermatitis. The usual cutaneous manifestation is circumflex linear ichthyosis, with generalized hyperkeratosis and erythematous plaques with a characteristic double border scaling.

At birth it may present itself as a generalized erythroderma or collodion baby. Newborns and children may have difficulty feeding; there is malabsorption and lack of growth. Along with atopic dermatitis, there may be itching and eczematous plaques appear secondarily in folds areas.

Sometimes atopy skin lesions are also associated with asthma. The alteration of the hair shaft is called invaginate trichorrhexis. In this entity, the distal segment of the hair is embedded within the proximal segment, which causes a deformation called ‘bamboo-shaped hair’.