Ichthyosis prematurity syndrome

Eosinophils in peripheral blood

Ichthyosis prematurity syndrome (IPS) is a rare genetic disorder characterized by abnormal skin development and complications arising during the prenatal and neonatal periods. It is a form of ichthyosis, which is a group of skin disorders that cause dry, scaly skin.

Presentation

IPS typically presents with symptoms before birth, often leading to premature birth. Affected infants may exhibit thick, white, waxy skin, particularly on the palms and soles. This condition can lead to respiratory distress due to the accumulation of amniotic fluid in the lungs, a condition known as polyhydramnios. Other symptoms may include eosinophilia, a higher than normal level of eosinophils in the blood, and hyperkeratosis, an excessive thickening of the outer layer of the skin.

Genetics

Ichthyosis prematurity syndrome is inherited in an autosomal recessive manner. It is caused by mutations in the SLC27A4 gene, which encodes a protein involved in fatty acid transport. Both parents of an affected individual typically carry one copy of the mutated gene but do not show symptoms of the disorder.

Diagnosis

Diagnosis of IPS is based on clinical findings, family history, and genetic testing. Prenatal diagnosis may be possible through ultrasound findings of polyhydramnios and thickened skin. Postnatal diagnosis involves a combination of physical examination and genetic testing to identify mutations in the SLC27A4 gene.

Management

There is no cure for ichthyosis prematurity syndrome, and treatment focuses on managing symptoms. This may include the use of emollients and keratolytic agents to manage skin symptoms, as well as respiratory support for infants with breathing difficulties. Regular follow-up with a dermatologist and other specialists is often necessary.

Prognosis

The prognosis for individuals with IPS varies. While some infants may experience significant complications at birth, many improve with appropriate medical care. Long-term outcomes depend on the severity of the skin and respiratory symptoms and the effectiveness of the management strategies employed.

Related Pages

• Ichthyosis
• Autosomal recessive
• Hyperkeratosis
• Polyhydramnios
• Eosinophilia