INCIDENCE

• Despite the fact that this syndrome is extremely uncommon, cases of it have been reported in a great number of nations.

• In the 1950s, Sweden was the site of a significant amount of study into this illness.

• It was discovered that the condition, which was given its name after the two Swedes who carried out the research, occurs in approximately eight persons out of every one hundred thousand people in a certain region of this country.

• It can have an impact on both males and females.

• There are a number of other syndromes that can create a skin rash that is very similar to Sjorgen-Larsson syndrome, however the Sjorgen-Larsson syndrome can be diagnosed rather specifically by the symptoms that are linked with it.

CAUSATION

• This syndrome is passed down through generations as a trait that is autosomal recessive.

• The faulty gene that's responsible has not been found yet, however researchers are working on it.

• The absence of a substance that is required for the full oxidation of another chemical that is required for proper metabolism allows for the identification of individuals who are carriers of the illness.

• There is not currently an available prenatal test.

CHARACTERISTICS

• Skin: the most noticeable aspect of Sjorgen-Larsson syndrome is the anomaly that manifests itself on the patient's skin.

  • The newborn's complexion turns pink and then red shortly after birth.

• Within a short period of time, this redness transforms into a characteristic rash that looks like fish scales (icthyosis).

  • The appearance of the skin is one that is dry and'scaly' to the touch.

  • The areas of the body that are most seriously affected are the ones that are located in close proximity to one another, such as the armpits, the elbow creases, the area around the neck, and even the lower region of the abdomen.

  • These common skin lesions will be there for the whole of one's life.

• Spasticity is an additional feature of Sjorgen-Larsson syndrome that can be found in patients.

  • In most cases, this condition only affects the lower half of the body.

  • As a direct consequence of this, almost three quarters of those who are affected by this disease spend the majority of their life confined to a wheelchair.

  • Leg muscles have increased tone, which causes the legs to be rigid.

  • A common finding in this region is an increase in the tone of the muscles around the mouth.

  • This can lead to problems with the future development of speech, particularly in the first few days of a child's existence, as well as difficulty with feeding, particularly in those early days.

• Mental capabilities: practically all people who have this syndrome have a learning problem of some kind.

  • Some children have only a moderate intellectual disability, falling somewhere between the ranges of 70 and 90 on the intelligence scale. (The term 'borderline retardation' refers to a level similar to this.) Some youngsters suffer from severe forms of learning disability.

• Before a patient may be given a diagnosis of Sjorgen-Larsson syndrome, they are need to exhibit all three of the characteristics listed above.

  • As was indicated before, icthyosis is a condition that is shared by a number of other syndromes; however, only those who suffer from Sjorgen-Larsson syndrome have the additional characteristics of learning disability and neurological abnormalities.

• Eyes: approximately half of the children who have Sjorgen-Larsson syndrome will experience a deterioration of sections of the retina at some point throughout their childhood.

  • This can begin as early as the age of two in some cases.

  • In the event that this does take place, an individual's eyesight may be impaired to a greater or lesser degree, depending on the severity of the retinal degeneration as well as its location.

MANAGEMENT IMPLICATIONS

• Skin: the dry scales that appear in particular regions of the skin as a result of this illness can make it very difficult to live with because of the dryness that is linked with it.

  • When bathing children who have this illness, you shouldn't use soap because it has a drying effect and can make the problem worse.

  • It is possible to eliminate the dry scales without causing any irritation by using lactic or glycolic acid.

  • This will need to be done on a consistent and ongoing basis at regular intervals.

  • In an effort to alleviate the dryness, you could also want to experiment with several fatty emollient lotions.

• The assistance of a dermatologist can be quite beneficial.

• To prevent the dry, scaly skin from becoming irritated by the fluffy textiles, considerable consideration will need to be given to the selection of clothing.

  • Cotton and other natural fibers are most likely to be the most appropriate choice.

  • Children often develop intense feelings of embarrassment as they mature due to the rough texture of their skin, which stands in stark contrast to the flawlessly smooth skins of their peers.

  • Wearing clothing with long sleeves and high necklines is one of the best ways to avoid being embarrassed in regular situations.

• When the child returns to school, the teachers will need to be told of the child's skin issue so that they may provide explanations to the other students in the class when it is time for playtime during the summer.

• There is not much that can be done to alleviate the symptoms of spasticity, which is a devastating neurological disorder.

  • Due to the baby's still-developing mouth and throat muscles, feeding them in their first few weeks of life may require special attention.

  • For the same reason, articulation issues may be present in the speaker's speech.

  • Input from speech therapy beginning at a young age will make certain that speech development occurs as normally as is possible.

  • If the learning handicap is significant, this will, of course, give rise to increased difficulties in this area of growth as well as in other areas of development.

  • Due to the neurological defects that accompany Sjorgen-Larsson syndrome, affected children will, sadly, require the use of wheelchairs at some point in their lives.

  • To avoid developing pressure sores, receiving quality nursing care is essential.

• It is of the utmost importance that babies and children who are suspected of having a learning problem have frequent developmental examinations on a consistent basis.

  • Even though a kid has been diagnosed with Sjorgen-Larsson syndrome, this does not necessarily guarantee that the child will have a major learning deficit; in fact, the child's IQ may be on the verge of being normal.

  • Therefore, when the time comes for the child to start school, it is essential to select the appropriate school for the child's skills if one wishes for the child to realize his or her full genetic potential.

• Vision: regular, thorough examinations of one's visual acuity should be performed all throughout one's life.

  • An examination of the eye will reveal whether or not there is any degeneration of the retina present.

  • There is not much that can be done to improve the visual impairment caused by this cause; however, other refractive problems such as long- or short-sight or astigmatism can be corrected by appropriate lenses, thereby minimizing the amount of visual impairment experienced.

  • This can be done with routine eye exams.

THE FUTURE

• This is very dependent on the severity of the neurological and learning problems that the individual possesses.

• If either of these two factors is significant, then one's life expectancy may be impacted negatively.