Genetics of Sjogren-Larsson Syndrome Follow-up

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

Further Outpatient Care

The initial evaluation and workup for Sjögren-Larsson syndrome can usually be performed on an outpatient basis.

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Further Inpatient Care

Patients with Sjögren-Larsson syndrome (SLS) may require inpatient care for brain MRI or ophthalmologic examination under general anesthesia or for acute treatment and management of seizures.

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Inpatient & Outpatient Medications

Topical moisturizing lotions, keratolytic agents, anticonvulsants (if necessary), and retinoids can be administered as outpatient medications.

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Transfer

Patients with Sjögren-Larsson syndrome might need to be transferred to another medical facility if specialty expertise is not otherwise available.

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Deterrence/Prevention

Because Sjögren-Larsson syndrome is inherited in an autosomal recessive manner and because most families do not have a history of the disease, preventing the first occurrence of Sjögren-Larsson syndrome in a family is not possible.

Genetic counseling and prenatal diagnosis can prevent the birth of a subsequent child with Sjögren-Larsson syndrome. After Sjögren-Larsson syndrome is diagnosed in a family, offer genetic counseling to provide the family information about the risk of recurrence.

Prenatal diagnosis can be accomplished by measuring FALDH enzyme activity in cultured chorionic villi cells obtained at 8.5-11 weeks' gestation or in cultured amniocytes obtained at about 16 weeks' gestation. Many parents elect to terminate a pregnancy when a fetus has Sjögren-Larsson syndrome.

DNA-based prenatal diagnosis can be performed by using fetal-derived DNA if the mutations are identified in the family with Sjögren-Larsson syndrome.

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Complications

Contractures are more likely to develop in the lower extremities than in the upper extremities. Seizure disorder may occur.

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Prognosis

The prognosis for any patient with Sjögren-Larsson syndrome ultimately depends on the severity of the neurologic disease. The clinical course of Sjögren-Larsson syndrome cannot be predicted in early infancy before neurologic symptoms have matured. Sjögren-Larsson syndrome is not neurodegenerative. Most patients with the disease do not get clinically worse over time. With adequate medical therapy, most patients with Sjögren-Larsson syndrome survive into adulthood.

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Patient Education

Parents and caregivers of individuals with Sjögren-Larsson syndrome, as well as patients with Sjögren-Larsson syndrome, need education about the daily management of the ichthyosis.

Training to provide home-based physical therapy is useful to prevent contractures.

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