Genetics of Sjogren-Larsson Syndrome Treatment & Management

Updated: Dec 17, 2014
  • Author: William B Rizzo, MD; Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
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Treatment

Medical Care

Cutaneous symptoms of Sjögren-Larsson syndrome (SLS) require constant attention. For this reason, parents and caregivers often perceive the ichthyosis as the most obvious and time-consuming symptom of Sjögren-Larsson syndrome. The mainstay of therapy for ichthyosis consists of applying topical moisturizing creams and keratolytic agents, such as alpha-hydroxyacid (eg, lactic acid, glycolic acid), salicylic acid, and urea. [29] Daily water baths help keep the skin hydrated.

Systemic retinoids markedly benefit ichthyosis; however, they are infrequently used in children because of concern about potential adverse effects (eg, growth delay due to epiphyseal closure). Retinoids are usually stored in the body for long periods because of their fat-soluble properties. Newer, short-lived retinoids (eg, acitretin) may circumvent some of the problems associated with tissue storage of the drug; however, experience with these drugs in patients with Sjögren-Larsson syndrome is limited. [29, 30]

Patients with severe pruritus may benefit from treatment with zileuton, which blocks leukotriene B4 synthesis. [31] Seizures, if recurrent, usually respond to standard anticonvulsant medications.

Experience in treating the spasticity in individuals with Sjögren-Larsson syndrome with baclofen (Lioresal) is not encouraging. Botulinum toxin (Botox®) injections have been used in several patients with Sjögren-Larsson syndrome; however, anecdotal results indicate only a limited favorable response.

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Surgical Care

Spasticity in patients with Sjögren-Larsson syndrome is often improved by surgical procedures (eg, tendon lengthening, adductor release, dorsal root rhizotomy). [32] These procedures may help some patients with Sjögren-Larsson syndrome become ambulatory.

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Consultations

Experience indicates that most patients have received consultative attention from multiple subspecialists before Sjögren-Larsson syndrome is initially diagnosed. After Sjögren-Larsson syndrome is diagnosed, continue subspecialty care to promote an optimal outcome.

Consultation with a dermatologist is important in treating the ichthyosis. Most patients with Sjögren-Larsson syndrome respond to topical keratolytic agents and moisturizing creams. Systemic retinoids are effective in treating the ichthyosis.

A child neurologist should take an active role in evaluating and managing neurologic symptoms in all patients with Sjögren-Larsson syndrome. This is particularly important for recommendations concerning drug or surgical intervention for spasticity and anticonvulsant therapy for seizure disorder.

Patients with Sjögren-Larsson syndrome typically benefit from regular physical therapy to maintain ambulation and to prevent contractures from progressing.

Some patients with this disorder may require consultation with a surgeon to treat spasticity and contractures.

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Diet

Dietary supplementation with medium-chain triglycerides reportedly helped the ichthyosis in several patients with Sjögren-Larsson syndrome; however, results have been inconsistent. [7]

No convincing evidence suggests that changes in diet reduce neurologic symptoms.

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Activity

Physical activity, particularly ambulation, is impaired in most patients with Sjögren-Larsson syndrome. Including physical therapy in the care of patients with Sjögren-Larsson syndrome is important to prevent or mitigate leg contractures that naturally develop in this disease.

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