Harlequin Type Ichthyosis
Harlequin Type Ichthyosis Causes
The exact cause of harlequin type ichthtyosis is not known, although it is generally accepted that it is an underlying genetic and biochemical abnormality.
Harlequin Type Ichthyosis Definition
Harlequin type ichtyhysosis is a hereditary congenital skin disorder characterized by thick and cracking skin that splits apart due to thickening of the keratin layer. The skin contains reddish, diamond-shaped scales. It is the most severe form of congenital ichthyosis. Individuals with the condition are known as harlequins, harlequin babes, or harlequin fetuses.
Harlequin Type Ichthyosis Diagnosis
The condition may be diagnosed in the uterus through a morphologic analysis of amniotic fluid or fetal skin biopsy. Ultrasound and 3D ultrasound are also other methods of prenatal diagnosis.
Harlequin Type Ichthyosis Symptoms and Signs
Symptoms include an abnormal contraction of the eyes, mouth, ears, and other appendages. The sufferers have cranial and facial deformities. The ears and nose may be entirely absent or poorly developed. The eyelids have severe ectropion, wherein they are everted, making the eye and the area surrounding it vulnerable to trauma. Bleeding in them is also common in birth, The lips are fixed into a wide grimace, a condition called Eclabium. The abnormal deforming of the fingers, arms, and feet prevent them from bending properly. Hypoplasia is also present in the fingers. Polydactyly is also common in infants.
Harlequin Type Ichthyosis Treatment
Harlequin type ichthyosis is inevitably fatal. The conditions brought about upon birth make survival difficult, such as infection, dehydration, and restricted respiration. Sufferers rarely survive more than a few days. In very rare cases, sufferers have lived to adulthood.