Harlequin-type ichthyosis
Harlequin-type ichthyosis (pronunciation: har-le-quin type ik-thee-o-sis) is a severe genetic disorder that primarily affects the skin. It is the most severe form of congenital ichthyosis, characterized by a thickening of the keratin layer in fetal human skin.
Etymology
The term "Harlequin" comes from the distinctive diamond-shaped pattern of a Harlequin's costume in Commedia dell'arte, which resembles the thick, hard, diamond-shaped scales that form on the skin of those with the condition. "Ichthyosis" is derived from the Greek "ichthys" meaning fish, referring to the scaly skin seen in this condition.
Symptoms
Infants with Harlequin-type ichthyosis are born with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures). These abnormalities affect the shape of the eyelids, nose, mouth, and ears, and limit movement of the arms and legs. Restricted movement of the chest can lead to breathing difficulties and respiratory failure.
Causes
Harlequin-type ichthyosis is caused by mutations in the ABCA12 gene. This gene provides instructions for making a protein that is essential for normal skin development. Mutations in the ABCA12 gene disrupt the normal development of the skin, leading to the severe symptoms of Harlequin-type ichthyosis.
Treatment
There is no cure for Harlequin-type ichthyosis, but the symptoms can be managed. Treatment typically includes intensive care at birth, frequent application of moisturizers and protective ointments, and in some cases, retinoid drugs.
Related Terms
External links
- Medical encyclopedia article on Harlequin-type ichthyosis
- Wikipedia's article - Harlequin-type ichthyosis
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