Home › Featured › Importance of Eye Care in Ichthyosis. Harlequin ichthyosis is inherited in an autosomal recessive pattern. Harlequin ichthyosis is a rare genetic condition that causes hard, scaly patches of skin. Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Ectropion is mostly associated with lamellar ichthyosis (LI). In this disorder, an Autosomal Recessive form of inheritance is seen. … The primary aim of eye care for adults and children with ichthyosis is to maintain moisture, integrity and clarity of the cornea (transparent part of the eye) and surface of the eye. Examination of the eyes of a series of patients with four distinct types of ichthyosis disclosed that ectropion secondary to involvement of the skin of the lower eyelid was found only in patients with lamellar ichthyosis. The thick plates can pull at and distort facial features and can restrict breathing and eating. Cicatricial ectropion can be appreciated at birth (as in the case of Harlequin-type ichthyosis) or later in life. Harlequin Fetus … Mr Raman Malhotra presenting at our 2017 Family Conference . Deep corneal dystrophy was present in all patients with X-linked ichthyosis and in most of the female carriers of this disorder. Harlequin fetus is the most acute form of Congenital Ichthyosis that is very rare in nature. The newborn infant is covered with plates of thick skin that crack and split apart. It affects only one out of 300.000 births.
Harlequin ichthyosis may be accompanied with lipid dysfunctions of the epidermal layer of the skin, starting prenatally, and has many names such as alligator baby and malignant keratosis.2 KID syndrome stands for keratitis, ichthyosis and sensorineural deafness. A new dominant autosomal mutation may be responsible. Harlequin Ichthyosis Fetus. In patients afflicted with several variants of ichthyosis, ocular complications, such as ectropion, lagophthalmos (the inability to close the eyes completely), and exposure keratopathy can be observed. Harlequin infants need to be cared for in the neonatal intensive care unit immediately.
Harlequin ichthyosis is a rare genetic skin disorder.
This disease has a very bad prognosis as neonates generally die within the first few hours or days of life.