Sjögren-Larsson syndrome
Codes
ICD-10: Q87.1K
ORPHA: 816
General information
Estimated occurrence
1:200,000 live births.Cause
Sjögren-Larsson syndrome is caused by changes to chromosome 17. The gene is a template for the production of the FALDH enzyme (fatty aldehyde dehydrogenase). FALDH deficiency leads to the accumulation of fatty aldehydes and fatty alcohols in body tissues, which are considered to explain the clinical symptoms of Sjögren-Larsson syndrome. Autosomal recessive inheritance.
General symptoms
People with Sjögren-Larsson syndrome have congenital skin changes (ichthyosis) in the form of dry, scaly, thickened skin. The intense itching that remains throughout the person's life is a major problem. All those affected have functional and intellectual disabilities that vary in degree. Vision is also influenced, with over-sensitivity to light and myopia. Hearing may be affected by flakes of skin that accumulate in the ear canals. Epilepsy occurs in approximately 40% of cases. The ability to sweat is often affected, and many are sensitive to heat.
Synonyms
SLS.
Orofacial/odontological symptoms
Delayed speech and language development and stuttering are common. Some are affected in their oral motor functions, which can lead to eating problems and reduced saliva control.
Advice on follow-up and treatment
- Early contact with dental services for intensified prophylactic care and oral hygiene information is essential for people with Sjögren-Larsson syndrome.
- Training in oral motor skills and extra stimulation in cases of eating disorders, speech difficulties and impaired saliva control may be necessary.
- Speech, language and communication training are often required.
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