Sjögren-Larsson syndrome
Encyclopedia
Sjögren–Larsson syndrome is an autosomal recessive form of ichthyosis
apparent at birth.
It should not be confused with Sjögren's syndrome
, which is a distinct condition named after a different person (Henrik Sjögren
).
Ichthyosis
Ichthyosis is a heterogeneous family of at least 28, generalized, mostly genetic skin disorders. All types of ichthyosis have dry, thickened, scaly or flaky skin...
apparent at birth.
Causes
It is associated with a deficiency of the enzyme "fatty aldehyde dehydrogenase". At least 11 distinct mutations have been identified.Pathological features
- Dry and scaly skin similar to all other ichtyosiforms (types of ichthyosis).
- Neurological problems - this can often cause mild paralysis in the legs
- Mild to moderate mental retardation.
Eponym
It was characterized by Torsten Sjögren and Tage Larsson.It should not be confused with Sjögren's syndrome
Sjögren's syndrome
Sjögren's syndrome , also known as "Mikulicz disease" and "Sicca syndrome", is a systemic autoimmune disease in which immune cells attack and destroy the exocrine glands that produce tears and saliva....
, which is a distinct condition named after a different person (Henrik Sjögren
Henrik Sjögren
Henrik Samuel Conrad Sjögren was a Swedish ophthalmologist best known for the eponymous condition Sjögren's syndrome. Sjögren is pronounced ; the syndrome is in English. Sjögren published a doctoral thesis in 1933 titled "On knowledge of keratoconjunctivitis) that eventually served as the basis...
).