Over Netherton, Ichthyosis en de stichting

Netherton rug

Sjörgen-Larsson Syndrome

People affected with Sjörgen-Larsson Syndrome will have other medical problems besides ichthyosis. Both skin problems and neurological problems (weakness and partial paralyses in arms and legs) are caused by an abnormality in a chemical (fatty alcohols). Fatty acids will not be transmitted properly and build up in the skin and nerves.

Often children are born premature, because of a certain substance in the urine of the foetus that induces labour. In many cases children are born with red skin and scaling will occur soon after birth. Sometimes the condition is not visible at birth and the scaling will start a few months after.

Sjörgen-Larsson Syndrome is inherited as recessive autosomal. Parents can be carrier without having the symptoms. Each pregnancy there is a 25% chance of an affected child. The chance of having a child carrying the faulty gene is 50%.  And 25% chance the baby is healthy. The abnormality lies in the ALDH3A2 gene on chromosome 17. This leads to defects in the production of a certain enzyme and this causes the accumulation of fatty acids.

Babies with this condition can also be born with a collodion membrane. After some time the film cracks and sheds. After this the scaling of the skin starts and over time the scales become darker. The skin can be very itchy. This is one of the characteristics of SLS. Especially scaling in the neck, stomach crease of the elbow will turn from yellow to brown.

The child can stay behind mentally and physically. Physical activities are limited because of weakness in the muscles and spasticity. Mentally the child develops slower than other children because fatty acids accumulate in the brain. Swallowing can be done without problems. Stiffness is more severe in the legs than in the arms. Epilepsy can occur. Sometimes the head is smaller and the child has shorter stature compared to peers Some cannot cope well with heat and get overheated easily. The severities of the symptoms vary from case to case.

Some findings to diagnose SLS:

  • Patient and family history
  • MRI scan
  • Skin examination
  • Metabolism examination
  • Genetic research on DNA

The condition is very rare and demands specific research.

SLS cannot be cured but symptoms can be treated. Medicines can be provided for Itch. The skin can be treated with vitamin A and urea. Epilepsy can be treated with medicines. And physiotherapy can improve spasticity.