Harlequin Ichthyosis

Harlequin Ichthyosis
1) Other Names :
-Ichthyosis cogenita
-Harlequin fetus type
-Harlequin fetus
2) Categories :
Congenital and Genetic Diseases; Skin Diseases
3) Definition :
Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. The newborn infant is covered with plates of thick skin that crack and split apart. The thick plates can pull at and distort facial features and can restrict breathing and eating. Mutations in the ABCA12 gene cause harlequin ichthyosis.
4) Causes :
-Harlequin ichthyosis is caused by mutations in the ABCA12 gene.
-Abnormally small version of the protein that cannot transport lipids properly. A loss of functional ABCA12 protein disrupts the normal development of the epidermis, resulting in the hard, thick scales characteristic of harlequin ichthyosis.
5) Symptoms :
-Congenital ichthyosiform erythroderma
-Depressed nasal ridge (Flat nose)
-Ectropion (Eyelid turned out)
-Hearing abnormality
-Hyperkeratosis
6) Diagnosis :
Harlequin ichthyosis can be diagnosed before birth using either amniocentesis or chorionic villus sampling. Both of these procedures are used to obtain a sample of fetal DNA, which can be tested for mutations in the ABCA12 gene. The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition.
7) Treatment :
Antibiotic treatment may be necessary to prevent infection at this time. Oral retinoids display an impressive antikeratinizing action in ichthyosiform dermatoses.
Administration of oral Acitretin and Isotretinoin may accelerate shedding of the thick scales. Most harlequin infants will need one-on-one nursing care for the first several weeks of life.
8) Prevention :
Prevention. As it is an autosomal recessive genetic disorder which is inherited from parents to new born babies due to the mutation ABCA12 gene there is only cure but no prevention to this disease. There are many tests to diagnose and treatment to cure the disease than preventing the disease.