Harlequin ichthyosis is a genetic disorder that causes dry, cracked, and thick, scaly skin all over the body. This skin disorder is very rare and affects 1 in 300,000 newborns, both boys and girls.
The skin is a barrier between the body and the external environment. Babies born with Harlequin ichthyosis the condition of the skin is damaged, so the function of the skin in maintaining the balance of fluids in the body and fighting infection will be disrupted.
As a result, this condition often leads to severe dehydration and life-threatening infections in the first few weeks of a baby's life. Therefore, babies born with Harlequin ichthyosis usually directly treated through intensive care in the NICU room.
Understanding Cause Harlequin Ichthyosis
Harlequin ichthyosis It is caused by a genetic mutation, specifically a mutation in the ABCA12 gene. This gene functions in producing the ABCA12 protein which is essential for the formation of normal skin cells.
Mutations cause the production of these proteins to fail or produce abnormal proteins. This causes the skin all over the body and face to become thick and scaly.
This rare skin disorder is usually inherited from parents to children in an autosomal recessive manner. That is, if both parents have the ABCA12 gene mutation, the child's risk of developing Harlequin ichthyosis is 25%.
Signs and symptoms Harlequin Ichthyosis
baby with Harlequin ichthyosis will usually be born prematurely. Common recognizable signs of this rare disease include:
- Dry and scaly skin all over the body
- Eyelids are folded out
- Mouth always open
- Ears fused with head
- Hands and feet are swollen and difficult to move.
Meanwhile, some of the symptoms that appear in infants with this condition are: Harlequin ichthyosis among others:
- Difficulty breathing
- Low body temperature
- High blood sodium levels (hypernatremia)
As they age, children with Harlequin ichthyosis will also experience interference in the form of:
- Delays in motor development and body growth
- Decreased hearing ability
- Repeated skin infections in the slits
- Always feel hot
Physically the child with the condition Harlequin ichthyosis it looks to have many abnormalities, but this disorder only comes from the skin. Usually, his mental development is not impaired and is on par with children his age.
can Harlequin Ichthyosis Healed?
Until now, there is no medicine that can cure the disease Harlequin ichthyosis. Various treatments given by doctors only aim to reduce symptoms and prevent complications.
Babies born with the condition Harlequin ichthyosis usually will be immediately treated with intensive care in the NICU room. Some of the procedures that doctors perform while the baby is in the NICU are:
- Insert a feeding tube or nasogastric tube to prevent nutritional and fluid deficiencies
- Applying antibiotics to prevent infection
- Cover the skin with a bandage to prevent infection
- Insert a tube in the airway to help breathe
- Giving eye drops or other eye protection
With good care, babies with Harlequin ichthyosis generally have a high chance of survival. In fact, many sufferers are already teenagers and adults.
It really depends on regular treatment from doctors and support from people around the sufferer, both family members, caregivers, teachers, and friends.