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Harlequin ichthyosis is a rare genetic skin disorder and is also known as Harlequin baby syndrome, Ichthyosis Congenita, Harlequin Fetus Type. Infants with this condition 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. 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.
HOW IS HARLEQUIN ICHTHYOSIS DIAGNOSED?
The diagnosis of Harlequin Ichthyosis relies on both physical examination and certain laboratory tests. Genetic testing is the most specific diagnostic test for this disorder. Biopsy of skin may be done to assess the histologic characteristics of the cells. Histological findings usually reveal hyperkeratotic skin cells, which leads to a thick, white and hard skin layer.
HOW IS HARLEQUIN ICHTHYOSIS TREATED?
There is no cure for the disorder but it can be managed with treatment. The thick, plate-like skin of Harlequin type ichthyosis will gradually split and peel off over several weeks. Antibiotic treatment may be necessary to prevent infection. The skin symptoms are treated by applying skin softening emollients. Severe cases of ichthyosis can be treated systemically with oral retinoids.
DID YOU KNOW?
Harlequin babies are at risk of life-threatening complications in the postnatal period including respiratory distress, dehydration, electrolyte imbalance, temperature instability, feeding problems and bacterial infections, often with fatal consequences.