About ichthyosis fetalis

What is ichthyosis fetalis?

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 ichthyosis fetalis?

Chanarin-Dorfman syndrome can affect many systems. All patients have skin findings that are usually present at birth: redness, fine scaling, dark pigmentation and severe Itching which leads to scratching and skin-picking (excoriation). The skin appearance is referred to “ichthyosiform nonbullous erythroderma”. Patients also have liver disease with lipid storage which can lead to liver failure. About 60% of patients also have muscle problems. They have slowly progressive Weakness of the proximal arms and legs. When the muscles are affected they release their enzymes in the blood, which can be detected by the presence of a CK elevation. Exercise intolerance has never been reported, but many patients reported early fatigability.

Less commonly, other systems can be involved. Around 40% of patients have eye problems consisting mainly in cataracts or eyelids pointing outwards (ectropion). Approximately 25% of patients have progressive hearing loss. Around 25% have cognitive impairment. Short stature and growth retardation have also been reported. Some patients have intestinal problems such as fatty Diarrhea (steatorrhea) and enlarged spleen. Some have orthopedic problems and kidney dysfunction.

What are the causes for ichthyosis fetalis?

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 ichthyosis fetalis?

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 ichthyosis fetalis?

Ichthyosis fetalis is autosomal recessive congenital disorder that affects the outer layers of the skin.

  • This disorder is affected by problems in the ABCA12 named gene; the role of the ABCA12 gene is to protect the skin's outer layer from microorganisms by maintaining the skin's protective barrier. This gene works to transport the keratinocyte transmembrane lipid-protein.
  • A dysfunction in this working system can lead to defective transportations of lipid to the stratum corneum; this leads to accumulations that are known as hyperkeratosis.
  • This disease is transmitted by both parents having a defective gene.
  • For both active gene parents the risk is twenty-five percent with each pregnancy that affects child.
  • For the carrier child, there are fifty percent of chances to transmit this gene to their baby
  • This disease is generally greater shown in the region where there is common consanguinity parental means both the parents are from the same blood origins.


Symptoms
Thick plate-like scales of skin,Eyelids and lips to turn inside out revealing the red inner linings,Breathing and eating difficulties,Small, swollen, and partially flexed hands and feet
Conditions
A rare skin condition where the newborn infant is covered with plates of thick skin that crack and split apart
Drugs
Oral retinoids (only used in severe cases),Antibiotic treatment,Skin softening emollients,Products containing alpha-hydroxy acids or urea

Is there a cure/medications for ichthyosis fetalis?

Ichthyosis fetalis is autosomal recessive congenital disorder that affects the outer layers of the skin.

  • Generally, the disorder is diagnosed by birth and the physical appearance of the infants. Some parental gene testing can be done to check mutations in ABCA12 gene.
  • This type of disease needs emergency treatments at the time of birth of a baby, with a team of doctors from multi-specialty fields.
  • With the presence of doctors, it will reduce difficulties such as breathing, dehydration, electrolyte imbalance, bacterial infections, feeding difficulties, etc., during birth.
  • Oral retinoids are also used at the time of initial treatment, but side effects are to be taken into account.
  • The thick skin is peeled off and splits gradually in servile weeks and treatment of antibiotics is given with this to prevent infections. This will need nursing care with all expertise in the first weeks.
  • like ceramides (cholesterol), moisturizers with petrolatum (lanolin) and mild keratolytics (products containing alpha-hydroxy acids or urea) are helpful to keep the skin moisturized and smooth. It also prevents it from cracks that can gives infections.


Symptoms
Thick plate-like scales of skin,Eyelids and lips to turn inside out revealing the red inner linings,Breathing and eating difficulties,Small, swollen, and partially flexed hands and feet
Conditions
A rare skin condition where the newborn infant is covered with plates of thick skin that crack and split apart
Drugs
Oral retinoids (only used in severe cases),Antibiotic treatment,Skin softening emollients,Products containing alpha-hydroxy acids or urea

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