Definition of Harlequin Ichthyosis
Harlequin ichthyosis is a skin related medical condition andit is actually the most severe type of congenital ichthyosis. Its maincharacteristics include a thickening of the keratin layer in fetal human skin.A baby born with this skin related medical condition has very hard, thick skinwhich covers the most portions of the body. The skin contains large scalesshaped like diamonds which tend to have a red color. The condition also usuallyinvolves abnormal contractions of the penis, ears and the eyes and the movementof the legs and the arms is usually limited due to the condition. In some casesthe condition may also involve restricted movement of the chest which usuallyends in various different breathing difficulties and, eventually, respiratoryfailure. The normal skin folds easily, but the skin of an infant affected byharlequin ichthyosis develops cracks at those areas of the body so variousdifferent types of bacteria and others sorts of contaminants easily enter thebody and lead to the development of numerous different types of infections. Dueto the thick skin, the affected child cannot regulate the body temperature in aproper manner and there are also issues with controlling the water loss. Thismay lead to a loss of significant amounts of water and life threatening casesof dehydration. Fortunately enough, harlequin ichthyosis is a very rare medicalcondition and the exact number of cases is largely unknown.
History of Harlequin Ichthyosis
Harleqyin ichthyosis has been discovered in 1750 by OliverHat who was a cleric in Charleston, South Carolina. He described it as amedical condition which involved very hard and dry skin which appeared to becracked in many portions of the body of the poor infant who was affected by thedisorder. He also said that the scales on the skin resembled the scales of afish. The child also had a large, round and open mouth and it had no externalnose, just the holes in the place where the nose was supposed to be. The child’seyes were actually large lumps of coagulated blood and the poor toddler didnot have any external holes. As were the case with the nose, there were onlyholes where the ears were supposed to be. The hands and feet of the child were describedas very swollen and cramped up. Harlequin ichtyosis got its name for the facialexpression commonly associated with the disorder and because of the scaleswhich are shaped like diamonds so they resemble the costume of Harlequin.During the recent years it has become possible to diagnose the disorder evenbefore the child is born by utilizing morphologic analysis of amniotic fluidcells which can be obtained by amniocentesis. Fetal skin biopsy can also beused for the same purposes. The disease can also be easily recognized by meansof an ultrasound and 3D ultrasound. The modern medical support made it possiblefor the affected infants to survive into childhood and adolescence, which wasnot always the case in the past.
Causes of Harlequin Ichthyosis
Harlequin ichthyosis is caused by certain mutations in thegene known as ABCA12 gene. This gene is responsible for the production of acertain type of protein which is in charge of normal development of skin cells.When the mutations in the gene occur, the production of the needed protein getssignificantly decreased so the lipids cannot be transformed throughout the bodyproperly. All of this leads to abnormal development of epidermis and theoccurrence of hard thick scales on the skin. Two copies of the gene in eachcell need to be altered before this medical condition can be inherited so thatis why it is medicinally considered as an autosomal recessive pattern. In mostcases the parents of an affected infant carry a copy of the mutated genewithout ever showing any symptoms or signs of harlequin ichthyosis.
Signs and Symptoms of Harlequin Ichthyosis
The most common symptoms include various different types offacial and cranial deformities. Among the frequently featured ones are poorlydeveloped or entirely absent nose and ears. This medical condition also ofteninvolves severe evertion of the eyelids which often ends up in dangerous typesof eye infections. It is very common for affected eyes to bleed at birth, as isalready described in the first historically documented case of this dreadfulmedical condition. The lips of an affected infant are usually deformed, pulledand fixed into a wide grimace. Fingers, feet and arms are always deformed andsometimes smaller than they should be. Children affected by harlequinichthyosis are commonly affected by temperature changes, restrictedperspiration and several other issues which may lead to severe cases ofhyperthermia, respiratory failure, hypoventilation and dehydration.
Treatment and Prognosis
In the past, this medical condition was usually fatal, butnowadays, medicaments such as Isotretinoin make it possible for the patients tosurvive into their early twenties. There is a constant progress in the field oftreatment plans and methods.