Lamellar ichthyosis

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Lamellar Ichthyosis

Lamellar Ichthyosis (pronounced: la-mel-lar ik-thee-oh-sis) is a rare, genetic skin disorder. It is part of a group of skin conditions known as Ichthyoses.

Etymology

The term 'Lamellar Ichthyosis' is derived from the Latin word 'lamella' meaning 'thin plate' and the Greek word 'ichthys' meaning 'fish'. This is due to the characteristic scale-like appearance of the skin in individuals affected by this condition.

Definition

Lamellar Ichthyosis is a type of Autosomal Recessive congenital ichthyosis (ARCI). It is characterized by the presence of large, dark, plate-like scales covering the body and is often associated with Ectropion (outward turning of the eyelid), Eclabium (outward turning of the lips), and ear deformities.

Symptoms

Symptoms of Lamellar Ichthyosis include:

  • Thickened, scaly skin
  • Ectropion
  • Eclabium
  • Hair loss
  • Difficulty sweating
  • Increased susceptibility to infections

Causes

Lamellar Ichthyosis is caused by mutations in the TGM1 gene. This gene provides instructions for making an enzyme that is crucial for the formation of the skin's outermost layer. Mutations in the TGM1 gene disrupt the normal formation of this layer, leading to the symptoms of Lamellar Ichthyosis.

Treatment

While there is currently no cure for Lamellar Ichthyosis, treatments aim to manage symptoms and improve the quality of life for those affected. Treatments may include:

  • Topical creams and ointments to moisturize the skin
  • Oral retinoids to reduce skin scaling
  • Antibiotics to treat skin infections
  • Surgery to correct ectropion and eclabium

Related Terms

External links

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