Harlequin
Harlequin Ichthyosis
Harlequin Ichthyosis (pronunciation: har·le·quin ich·thy·o·sis, /ˈhɑːrlɪkwɪn ˌɪkθiˈoʊsɪs/) is a severe genetic disorder that primarily affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies.
Etymology
The term "Harlequin" is derived from a character in Italian comedy, the face of which was traditionally painted to appear as if covered by a mask, similar to the appearance of infants with Harlequin Ichthyosis. "Ichthyosis" is derived from the Greek "ichthys" meaning fish, referring to the scale-like skin seen in this condition.
Symptoms
The thick skin forms diamond-shaped plates that are separated by deep cracks (fissures). These skin 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 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 hard, thick scales seen in people with Harlequin Ichthyosis.
Related Terms
- Ichthyosis: A group of skin disorders characterized by dry, scaly, or thickened skin.
- ABCA12: A gene that provides instructions for making a protein essential for normal skin development.
- Genetic disorder: A disease caused by changes in the DNA sequence.
External links
- Medical encyclopedia article on Harlequin
- Wikipedia's article - Harlequin
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