Harlequin ichthyosis is a congenital disease that causes abnormalities in the baby's skin from birth. Harlequin ichthyosis characterized by dry, thick, scaly skin all over the body.
Harlequin ichthyosis It is caused by a genetic disorder that is passed down from both parents. During the formation of organs in the womb, these gene abnormalities cause skin components to not form normally.
Harlequin ichthyosis is a fairly rare disease. This condition only occurs in 1 in 500,000 births.
Causes of Harlequin Ichthyosis
Harlequin ichthyosis caused by mutations or abnormalities in genes ABCA12. Normally, this gene functions to produce protein ABC transporter whose job is to distribute fat to the outermost layer of skin (epidermis).
Gene abnormalities ABCA12 on Harlequin ichthyosis causes protein production ABC transporter inhibited, so that the distribution of fat to the epidermal layer was disrupted. Without these fatty compounds, the development of skin cells becomes abnormal.
Harlequin Ichthyosis Impairment Pattern
Harlequin ichthyosis inherited in an autosomal recessive pattern. That is, this disease will only occur in someone who has inherited the gene mutation ABCA12 from both parents. In other words, someone who only inherited a gene mutation ABCA12 from one parent will not suffer Harlequin ichthyosis.
However, the person will be a carrier of the gene mutation (carriers) and can pass it on to their children. In this case, the risk of the child experiencing Harlequin ichthyosis is 12.5% in each pregnancy. The risk will increase to 25% if the partner also carrier mutation of this gene.
SymptomHarlequin Ichthyosis
baby with Harlequin ichthyosis usually born prematurely. The main symptom of this condition is thick red, scaly skin all over the body, including the face. The skin is also pulled tight, so it looks like cracks.
With this skin condition all over the body, there are various problems that can occur, including:
- Upturned eyelids
- Eyes can't close
- The shape of the ears is like blending with the head
- Lips are pulled tight, making baby's mouth open and difficult to suckle
- Difficulty breathing due to tight chest skin
- Hands and feet are smaller than normal and swollen
- Infection of the deep layers of the skin
- Limited leg movement
- Low body temperature
- Dehydration with high sodium levels in the blood
As the baby gets older, other problems will arise due to this condition Harlequin ichthyosis. Abnormalities in the overall skin can cause disturbances or abnormalities in the physical growth of children. The following are symptoms that can occur:
- Nails are thicker than normal
- Difficult to move fingers because the skin is pulled
- Thin or sparse hair, due to scales on the scalp
- Facial deformity, where the face seems to be pulled
- Hearing loss due to a pile of scales in the ear
child with Harlequin ichthyosis will also be more susceptible to skin infections. The scales that accumulate on the skin can also interfere with the sweating process, making the patient more susceptible to hyperthermia.
This condition can indeed affect many things physically, but the intelligence and emotional development of children with Harlequin ichthyosis usually no different from other children his age.
When to go to the doctor
Symptom Harlequin ichthyosis will be seen from the time the baby is born. If your child has the above symptoms and was not born in a hospital, immediately take him to the nearest doctor for initial help and a referral to a facility neonatal intensive care unit (NICU).
If you know of any history Harlequin ichthyosis in family, Consultation with a doctor should be done before pregnancy. Genetic testing can be done to find out if you and your partner are carrier this disease.
If you or your partner are pregnant, consult your doctor about your family medical history, so that the doctor can be more observant in monitoring the condition of the fetus. Also discuss with the doctor about the need for an amniocentesis examination and chorionic villus sampling (CVS).
Diagnosis of Harlequin Ichthyosis
Diagnosis Harlequin ichthyosis usually can be established through a physical examination, namely by looking at the signs on the patient's skin. To confirm the diagnosis, the doctor may also perform genetic tests or a skin biopsy.
Genetic testing aims to determine whether the patient has a gene mutation ABCA12. In addition, genetic testing can also help doctors to determine whether the patient's complaints are caused by: Harlequin ichthyosis or ichthyosis another kind.
Doctors can also diagnose Harlequin ichthyosis before the baby is born through an amniocentesis examination and chorionic villus sampling (CVS). Amniocentesis is performed by examining a sample of amniotic fluid, while CVS is performed by examining a sample of tissue in the placenta.
TreatmentHarlequin Ichthyosis
Suffering newborn Harlequin ichthyosis should be treated and monitored intensively in the NICU room. The first treatment given, among others:
- Putting the baby in the incubator, so that the baby's body temperature is maintained and the skin remains moist
- Provide breastfeeding aids to prevent malnutrition and dehydration
- Apply retinoid cream to shed hard, scaly skin
- Apply antibiotic ointment and bandage the baby's skin to prevent infection
- Put on eye drops or put on a device to protect baby's eyes
- Attaching a tube to the airway to help the baby breathe
Children with Harlequin ichthyosis also need regular control so that growth and development can be monitored properly.
For sufferers Harlequin ichthyosis, both children and adults, it is important to keep the skin clean, moisturized, and supple. That way, the skin can protect the body from germs and other harmful substances. Good skin condition will also maintain normal body temperature and fluid levels.
One way to protect your skin is to use ointments and skin moisturizers, especially after every shower. Instead, use a skin care cream that contains rich moisturizing ingredients, such as:
- Alpha hydroxy acids or alpha-hydroxy acids (AHA)
- Petrolatum or petroleum jelly
- Ceramide
- Cholesterol
- Lanolin
Complications of Harlequin Ichthyosis
The risk of complications is greater in newborns. The following are complications that can occur if: Harlequin ichthyosis not immediately addressed:
- Arthritis
- Recurrent skin infections
- Inflammation of the eye, such as conjunctivitis and keratitis
- Muscle stiffness in the joints of the body that causes difficulty moving
- Disturbances in the process of growth and development
- Thyroid hormone deficiency (hypothyroidism)
- Breathing too slow or shallow (hypoventilation)
- Breathing failure
- Sepsis
Prevention of Harlequin Ichthyosis
As explained above, Harlequin ichthyosis is a disease caused by genetic mutations that are passed down from both parents. Therefore, Harlequin ichthyosis can't be prevented.
However, you and your partner can do genetic testing early on, especially if you have a family history of this disease. That way, doctors can find out if there is a gene abnormality ABCA12 and how big is the risk Harlequin ichthyosis passed down to your child.