About harlequin fetus

What is harlequin fetus?

Harlequin ichthyosis is a rare genetic skin disorder. 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. Harlequin infants need to be cared for in the neonatal intensive care unit immediately. Harlequin ichthyosis is inherited as an autosomal recessive trait.

What are the symptoms for harlequin fetus?

Thick symptom was found in the harlequin fetus condition

Babies born with harlequin ichthyosis exhibit excessive thickening and hardening of the skin that looks like plates of skin scabs. These plates crack and split apart. The signs and symptoms of the disease include:

Difficulty breathing (death is most often due to breathing problems)

  • Difficulty in eating
  • Dry eyes
  • Flat nose
  • Red lips and eyes (everting of the skin causes them to turn inside out)
  • Small, swollen hands and feet that lead to restricted joint mobility
  • Ears fused to the head that appears as misplaced ears
  • Low body temperature
  • Dehydration
  • Hearing impairment
  • Frequent respiratory infections

Most of the problems have their roots in the thickening of the skin. Due to the Thick skin around the mouth, babies with harlequin ichthyosis face difficulty sucking milk from their mother’s breasts. Hence, they usually need tube feeding.

What are the causes for harlequin fetus?

Harlequin ichthyosis runs in families. The disorder is due to a problem in the gene ABCA12. ABCA12 is responsible for maintaining the skin’s protective barrier against external factors such as microorganisms. Genetic changes (mutations) disrupt this barrier and lead to the characteristic signs of the disorder.

If your baby has harlequin ichthyosis, it is more likely because you and your spouse/partner are carriers of the gene, or one or both of you is/are affected with the signs and symptoms of the disease. Carriers are people who carry the gene but do not show any symptoms.

A higher incidence of harlequin ichthyosis may be encountered in cultures where parental consanguinity is common.

What are the treatments for harlequin fetus?

Harlequin ichthyosis is a life-threatening condition that needs emergency care under the hands of a team of doctors from various specialties (multidisciplinary team). The treatment is directed at the complications of the disorder such as dehydration and electrolyte imbalances, among others. Oral retinoids (such as acitretin and etretinate) have shown to be of great help in extending the survival of the babies. Doctors use them to improve the outcomes, but these medications are usually reserved for severe cases.

The thick scales of harlequin ichthyosis peel off over several weeks that results in the removal of the skin’s protective barrier and exposes the underlying skin. This makes the skin prone to infections. Local application of antibiotic creams and oral antibiotic pills help treat any skin infections during this period. Heavy moisturizers such as ceramides and petrolatum help prevent water and nutrient loss through the skin. Hence, they are applied religiously to the skin, often several times during the day.

What are the risk factors for harlequin fetus?

A defect caused with birth that affects the skin and results in scaly, dry skin over the body is called Harlequin Fetus or Ichthyosis. It happens due to genetic mutations and wrong combinations in an infant’s body from parents.

Difficulties in Children and Adults:
Although the disease occurs in infancy, it is necessary to prepare for growing a child with this defect. These are the problems that could occur during the time of growing up as a child:

  • Thin Hair
  • Unusual Facial Features
  • Reduced Hearing
  • Reoccurring Skin Infections


Risk factors:

  • Harlequin Fetus is an autosomal recessive disorder because it is a rare genetic condition. So the cause for this disorder to manifest in a patient is the mutation in a gene.
  • It is carried through a person without the person being much affected by it.
  • When both the parents are carriers of this disease, 25% chances are that their child will have the condition.
  • According to NORD, this condition affects one in 500,000 people.
  • It is not caused due to pregnancy no need to blame the regime a woman follows during pregnancy.
  • If the prospective parents want to avoid such a situation, they can get tested or visit a genetic counselor.
  • In the case of a woman going through pregnancy, the healthcare provider can guide her about prenatal tests.
  • The condition is rare, but it is good to get tested before planning for a future to have a safe pregnancy.


Symptoms
Small-swollen hands and feet,Large plate-like patches on skin,Eyelids and lips pulled open due to tight skin, fingers and toes,Troubled breathing,Flat nose,Abnormal hearing,Frequent respiratory infections,Reduced joint mobility
Conditions
Limited Mobility,Breathing problems due to tight chest skin,Eye not closing,Overheating due to scales that interfere with sweating,Hypernatremia,Lamellar ichthyosis,Erythroderma,Arthralgias,Hypothyroidism,Short stature
Drugs
Alpha-Hydroxy Acids (AHA),Ceramides,Cholesterol,Lanolin,Petrolatum,AmLactin,Glycerine with lotions,Oral retinoids (acitretin and isotretinoin),Antibiotics,Emollients

Is there a cure/medications for harlequin fetus?

Harlequin fetus, also known as Harlequin ichthyosis is a rare genetic disorder.

  • Unfortunately, there is no permanent cure for the condition.
  • However, following an individualized treatment plan will help in protecting the skin and prevent severe infections.
  • The baby will be kept in a humidified incubator to keep up the optimal body temperature.
  • Antibiotic treatment may be necessary to prevent any infection. Administration of oral acitretin may accelerate the shedding of the thick scales. Most harlequin infants will need one-on-one nursing care for the first several weeks of life.
  • Adequate fluids and electrolytes will be given to maintain hydration.
  • In rare cases, surgery will be suggested to relieve skin tightening and improve the function of limbs and joints.
  • Antibiotic treatment is essential to prevent or treat infection
  • Softening emollients with urea, and salicylic acid will be effective in preventing cracking and fissuring.
  • Oral retinoids such as acitretin or isotretinoin will be prescribed to heal skin fissures and improve overall survival.
  • In the past, newborns with this disorder rarely survived beyond a few days after birth. However, nowadays, with the advancements in neonatal care, the rate of survival has improved.


Symptoms
Small-swollen hands and feet,Large plate-like patches on skin,Eyelids and lips pulled open due to tight skin, fingers and toes,Troubled breathing,Flat nose,Abnormal hearing,Frequent respiratory infections,Reduced joint mobility
Conditions
Limited Mobility,Breathing problems due to tight chest skin,Eye not closing,Overheating due to scales that interfere with sweating,Hypernatremia,Lamellar ichthyosis,Erythroderma,Arthralgias,Hypothyroidism,Short stature
Drugs
Alpha-Hydroxy Acids (AHA),Ceramides,Cholesterol,Lanolin,Petrolatum,AmLactin,Glycerine with lotions,Oral retinoids (acitretin and isotretinoin),Antibiotics,Emollients

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