Harlequin Ichthyosis
Harlequin Ichthyosis is a rare genetic disorder that affects the skin. It is also known as Ichthyosis Fetalis. The condition is caused by a mutation in the ABCA12 gene, which affects the production of a protein that is necessary for the proper development of the skin. Harlequin Ichthyosis is inherited in an autosomal recessive pattern, which means that a child must inherit two copies of the mutated gene, one from each parent, to develop the condition. The primary symptom of Harlequin Ichthyosis is the formation of thick, diamond-shaped scales that cover the entire body, except for the face, palms, and soles. The scales are separated by deep, red fissures, which can make it difficult for the baby to move, breathe, and feed. The skin is also very tight, which can restrict the baby's movement and cause the eyelids, lips, and fingers to become fixed in a distorted position. Babies with Harlequin Ichthyosis are also at high risk for dehydration and infection because the skin is unable to retain moisture and forms a barrier against the outside environment. Additionally, the babies are at risk for respiratory failure because the tight, thick skin can interfere with the expansion of the lungs. There is no cure for Harlequin Ichthyosis, and treatment focuses on managing the symptoms. Daily skin care, including bathing, moisturizing, and the use of topical keratolytic agents, can help soften and reduce the thickness of the scales. Antibiotics may be necessary to treat and prevent infections, and feeding tubes may be required to ensure adequate nutrition. Harlequin Ichthyosis has a high mortality rate, and many babies do not survive past the first few weeks of life. However, advances in medical care have improved the prognosis for babies with the condition, and some have survived into adulthood with ongoing treatment and support.