Harlequinichthyosis

Harlequin ichthyosis is a severe and rare genetic skin disorder. It is the most extreme congenital ichthyosis and is usually fatal. Infants born with harlequin ichthyosis are encased in thick, hard plates of skin. This skin is cracked and fissured, resembling harlequin costumes. The severe skin abnormalities cause significant problems with breathing, feeding, and thermoregulation. Affected infants are highly susceptible to infection and dehydration due to the compromised skin barrier.

The condition is caused by mutations in the ABCA12 gene, which is responsible for producing a protein involved in lipid transport in skin cells. This impaired lipid transport leads to the abnormal thickening and hardening of the epidermis. Harlequin ichthyosis is inherited in an autosomal recessive pattern, meaning both parents must carry a copy of the mutated gene for their child to be affected.

Diagnosis is typically made at birth based on the characteristic clinical presentation. Prenatal diagnosis can be achieved through genetic testing of amniotic fluid or chorionic villus samples. Treatment focuses on supportive care to manage the life-threatening complications. This includes intensive moisturizing, frequent bathing in lukewarm water, and the use of emollients to soften the skin. Antibiotics are used to prevent and treat infections. Specialized care in a neonatal intensive care unit is essential for affected infants. Despite aggressive treatment, the prognosis for harlequin ichthyosis remains poor, with a high mortality rate in the neonatal period. However, with advanced medical care and early intervention, some individuals have survived beyond infancy, requiring lifelong management of their skin condition.