What is the Difference Between Lamellar Ichthyosis and Harlequin Ichthyosis?

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Lamellar ichthyosis and harlequin ichthyosis are both rare genetic skin disorders that belong to the group of autosomal recessive congenital ichthyoses (ARCI). They share some similarities but have distinct differences in their characteristics and manifestations.

Lamellar Ichthyosis:

  • In lamellar ichthyosis, the body creates skin cells at a normal rate, but they do not separate from each other at the surface of the skin as they should, and the body does not shed the skin fast enough.
  • This condition is one of the three genetic skin disorders called ARCI.

Harlequin Ichthyosis:

  • Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyosis.
  • It is characterized by a profound thickening of the keratin layer in fetal development, leading to a massive, horny shell of dense, platelike scales, and contraction abnormalities of the eyes, ears, mouth, and appendages.
  • The affected neonate is born with a thick, platelike scale and contraction abnormalities of the eyes, ears, mouth, and appendages.
  • In harlequin ichthyosis, the marginal band is present at birth.

In summary, while both lamellar ichthyosis and harlequin ichthyosis are rare genetic skin disorders with overlapping symptoms, harlequin ichthyosis is the more severe form, characterized by a profound thickening of the keratin layer and contraction abnormalities of various body parts.

Comparative Table: Lamellar Ichthyosis vs Harlequin Ichthyosis

Lamellar ichthyosis and harlequin ichthyosis are two different forms of autosomal recessive congenital ichthyoses (ARCI), which are lifelong genetic skin disorders. Here is a table comparing the differences between the two:

Feature Lamellar Ichthyosis Harlequin Ichthyosis
Symptoms Babies start with a collodion membrane that turns into large, white, and later brown, plate-like scales. Babies develop thick, tough, armor-like skin plates with deep fissures.
Mutations Mainly due to mutations in the TGM1 gene. Mainly due to mutations in the ABCA12 gene.
Diagnosis Examination of physical appearance and genetic testing. Examination of physical appearance and genetic testing.
Treatment Mainly treated by applying skin moisturizers and retinoids. Mainly treated by applying skin moisturizers and retinoids.
Complications May include variable erythema, feeding difficulties, breathing difficulties, dehydration, and body temperature problems. May include variable erythema, feeding difficulties, breathing difficulties, dehydration, and body temperature problems.

Both disorders are inherited in an autosomal recessive pattern and may show similar symptoms, such as scaling.