Harlequin ichthyosis is a disease of the skin that involves the severe thickening of the keratin layer of the skin. It develops during fetal development and is apparent at birth. Newborns experience massive deformities in the skin, which include the presence of diamond-shaped and reddish scales on the skin. The thickened keratin layer of the skin also causes other parts of the body to be contracted such as the ears, eyes and penis. The thickened and scaly skin also limits the movement of the newborn. The most dangerous involvement of harlequin ichthyosis is the presence of cracks on the skin that becomes open, which would eventually lead to infections. These infections may lead to serious affectation and lead to sepsis. The opening on the skin also allows moisture and heat to escape, thereby contributing to dehydration and hypothermia.
Harlequin ichthyosis is initially diagnosed inside the womb through the use of ultrasound. Early diagnosis is warranted so that doctors can give the necessary managements and precautions at birth. Because of the massive destruction of keratin layer of the skin, immediate management should be employed. Know the 6 tips to cure Harlequin ichthyosis and keep away your child with this type of skin diseases which are briefly described.
Establishment of the airway, breathing and circulation at birth
The most important management at birth is the establishment of the ABCs of the newborn. Newborns may require intravenous infusions to prevent dehydration. They are also usually placed in a humidified incubator to maintain the moisture of the skin.
Because of the cutaneous loss of fluid in the body, intravenous infusions are needed in order to promote hydration of the cells. Fluid replacements are carefully calculated. Babies with harlequin ichthyosis also do not feed well; thereby intravenous infusions are also essential for nutrition.
Systemic retinoids such as Isotretinoin are the drug of choice for harlequin ichthyosis. Retinoids bind with the retinoic acid receptors, which regulates the gene transcriptions. Retinoids are used to regulate the differentiation and proliferation of the keratinocytes. It also causes the immediate desquamation of the hyperkeratotic scales, thereby minimizing the skin appearance of the baby. The most common retinoids that are given include Acitretin, etretinate and isotretinoin. These medications can be given through intravenous route or oral route. Babies need every day treatment of retinoids in order to achieve maximum results. Evidences from patients, reveal that there is increased pliability of the skin, sucking, limb movements and eyelid function following one week of therapy. Retinoids may be needed for several years, and some patients may need it indefinitely.
Due to the exposure keratitis of the eyelids, it usually leads to ectropion or the bulging of the eyes outward. Ophthalmic lubricants protect the conjunctiva by maintaining moisture.
Bathing the newborn and infant everyday is very essential in softening the skin and preventing skin infections. Bathing may be at most twice a day. Sodium chloride compresses may also be placed on the skin to soften the hard surface of the skin. Following bathing, a bland or water-based lubricant may be applied on the skin to also soften the hard skin surface.
Prevention of infection
Preventing infection is also one of the top 6 most important managements for harlequin ichthyosis. Maintenance of a sterile environment is needed. Cultures of the skin may be needed frequently to determine any bacteria such as Staphylococcus aureus or Pseudomonas species. Once infection has occurred, sepsis develops fats, which prompts for the use of antibiotics.
Signs of rickets may also be checked because babies usually have impaired vitamin D activation in the skin, which leads to poor calcium absorption and enhanced loss of calcium through the skin. Aside from harlequin ichthyosis, another potential problem that babies and children may experience is periorbital cellulitis