About ichthyosis sjogren larsson syndrome

What is ichthyosis sjogren larsson syndrome?

Sjogren-Larsson syndrome is an inherited disorder characterized by scaling skin (ichthyosis), mental retardation, speech abnormalities, and spasticity. Affected infants develop various degrees of reddened skin with fine scales soon after birth. After infancy, the skin loses its redness and dark scales often appear on the neck and under the arms. Additionally, larger plate-like thick scales may develop on the lower legs. Developmental delay, speech abnormalities and seizures may accompany skin symptoms. Spasticity in the legs typically impairs motor ability and walking. Many children with this disorder have glistening white dots or degeneration of the pigment in the retina of the eye.



What are the symptoms for ichthyosis sjogren larsson syndrome?

The first sign of Sjögren-Larsson syndrome is often preterm birth. Apparent at birth, the ichthyosis associated with SLS often starts as Thickened skin that is yellow-brown in color (hyperkeratosis). This Thickened skin eventually progresses to full scaling, especially at the neck, lower abdomen, and underarms, groin, and back of knees (flexures). Unique to SLS is the Itchy characteristic of the skin (pruritis).

The second feature of SLS is the stiffening of the muscles (spastic paresis). This affects the legs more often than the arms. Some individuals with SLS can walk without support, but as the stiffening worsens over time many individuals opt to use a wheelchair.

The other main clinical feature of SLS is intellectual disability. Most patients reach an average developmental age of 5-6 years of age.

Other features that could be seen include seizures, speech difficulty, short stature, spinal abnormalities (kyphoscoliosis), smaller head and brain (microcephaly), numbness in the hands and feet (peripheral neuropathy), widely spaced teeth, under-formed enamel of the teeth, widely spaced eyes, and uncontrolled movements of the eyes (nystagmus).

The symptoms of the condition can vary, even within families. However, Scaling skin (ichthyosis), intellectual disability, and muscle stiffness (spastic paresis) are always seen. The average lifespan for affected males and females is 15 years and 26 years, respectively.



What are the causes for ichthyosis sjogren larsson syndrome?

The gene that is altered in patients with Sjögren-Larsson syndrome is the aldehyde dehydrogenase 3A2 (ALDH3A2) gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain.

Changes (mutations) in the ALDH3A2 gene result in a lower than normal amount of an enzyme (fatty aldehyde dehydrogenase). A lower amount of this enzyme leads to the scaly and itchy skin and other features seen in Sjögren-Larsson syndrome.

SLS is an autosomal recessive condition. Most genetic diseases are determined by the status of the two copies of a gene, one received from the father and one from the mother. Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same trait, one from each parent. If an individual inherits one normal gene and one gene for the disease, the person will be a carrier for the disease but usually will not show symptoms. The risk for two carrier parents to both pass the altered gene and have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females.

Parents who are close blood relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.



What are the treatments for ichthyosis sjogren larsson syndrome?

There is no cure for Sjögren-Larsson syndrome. Treatment focuses on treating symptoms as they appear and may require multiple different specialists to help address them. A comprehensive team to care for children with SLS might include specialists who help with problems of the brain and central nervous system (neurologists), specialists who assess and treat problems with the skin (dermatologists), specialists who assess and treat eye problems (ophthalmologists), specialists who assess and treat problems of the skeleton and associated muscles and joints (orthopedists), and specialists who help with movement problems (physiotherapists).

Diets low in long-chain fats, such as oils, fish, nuts, avocados, and meat, and supplemented with medium-chain fats (triglycerides), such as dairy products and coconut oil, have been associated with skin improvement for some patients. Other means of diminishing scaling of the skin includes applying keratolytic or urea-containing lotions or creams.

While there is no cure for the muscle stiffness, physical therapy may help with movement. Other means in assisting movement might include bracing and support.

Individuals with SLS will likely benefit from special education services in light of their intellectual disability. Speech and language therapy has shown some benefit in improving language performance and augmented communication skills.

Genetic counseling is recommended for affected individuals and their family members.



What are the risk factors for ichthyosis sjogren larsson syndrome?

Ichthyosis Sjogren Larsson syndrome is an autosomal recessive defect in the gene that codes for the enzyme Fatty Aldehyde DeHydrogenase (FALDH).

  • The gene defect leads to a deficiency of the enzyme. FALDH plays the role of oxidative metabolism of long-chain aliphatic aldehydes of fatty acids.
  • Its deficiency causes the accumulation of fatty acids and alters cell membrane integrity skin, eyes, and central nervous system.
  • Ichthyosis is one of the clinical manifestations of the syndrome.


Risk factors
Sjogren syndrome is a genetic disorder that is inherited in a recessive pattern. Since the recessive mutant requires to be in the homozygous state to express the disease:

  • A child born to affected parents is diseased.
  • If one parent is affected but the other is normal, all children are carriers
  • If one parent is affected and the other is a carrier, 75 % of children are affected
  • If parents are carriers, one in four children is affected.

Environmental risk factors include

  • Exposure to sunlight, heat, and friction
  • Over-consumption of a diet rich in long-chain fatty acids
  • Excess stress on the eyes


Symptoms
Skin manifestations: erythematous and hyperkeratotic appearance at birth, progresses to dry scaly appearance over days,Neurological symptoms: delay in sitting, crawling and walking,Hypertonia, briak tendon reflexes, and ankle ccclonus,Deprived social interactions, delayed speech, seizures, Ophthalmic anomalies: glistening white dots in the retina
Conditions
Glistening white dots in the retina,Leukoencelopathy
Drugs
Muscle relaxants include chlorzoxazone, metaxalone, cyclobenzaprine, tizanidine, and orphenadrine,Anti-cholinergic drugs include atropine, belladonna alkaloids, benztropine mesylate, clidinium, cyclopentolate, darifenacin, and dicyclomine,Keratolytic agents like anthralin, balnetar, and salicylic acid,Humectants such as ammonium lactate, glycerine, hyaluronic acid, gelatin, and urea



Is there a cure/medications for ichthyosis sjogren larsson syndrome?

Though there is no cure for Ichthyosis Sjögren-Larsson syndrome, there are treatments that focus on treating symptoms as they appear.

Treatment

Currently, there is no FDA-approved curative therapy available. Hence, the current management strategies focus on reducing symptoms as they arise. Due to neurological and ophthalmologic involvement, multidisciplinary specialists are required.

  • Cutaneous interventions mainly focus on the restoration of water in the epidermis.
  • Emollients including Petrolatum, dimethicone, and propylene glycol improves skin tone by filling the fissures in dry skin.
  • Humectants such as ammonium lactate, glycerine, hyaluronic acid, gelatin, and urea enhance water transfer from the dermis to the epidermis and prevent skin from scaling.
  • Keratolytic agents like anthralin, balnetar, and salicylic acid remove pre-existing scales on the skin.
  • Spasticity is treated with muscle relaxants, benzodiazepines, and anticholinergic drugs. Muscle relaxants include cyclobenzaprine, tizanidine, chlorzoxazone, metaxalone, and orphenadrine.
  • Diets low in long-chain fats, (oils, fish, nuts, avocados, meat), and medium-chain fats (such as dairy products and coconut oil), have been associated with skin improvement for some patients.

Symptoms
Skin manifestations: erythematous and hyperkeratotic appearance at birth, progresses to dry scaly appearance over days,Neurological symptoms: delay in sitting, crawling and walking,Hypertonia, briak tendon reflexes, and ankle ccclonus,Deprived social interactions, delayed speech, seizures, Ophthalmic anomalies: glistening white dots in the retina
Conditions
Glistening white dots in the retina,Leukoencelopathy
Drugs
Muscle relaxants include chlorzoxazone, metaxalone, cyclobenzaprine, tizanidine, and orphenadrine, Anti-cholinergic drugs include atropine, belladonna alkaloids, benztropine mesylate, clidinium, cyclopentolate, darifenacin, and dicyclomine,Keratolytic agents like anthralin, balnetar, and salicylic acid,Humectants such as ammonium lactate, glycerine, hyaluronic acid, gelatin, and urea



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