Rare inborn error of lipid metabolism, characterized
by congenital ichthyosis, mental retardation, and spasticity.
Fatty Acid Alcohol Oxidoreductase Deficiency; FAO
Deficiency; Fatty Aldehyde Dehydrogenase Deficiency; FALDH Deficiency; SLS.
There are no epidemiological studies reported for SLS, however,
it has been demonstrated that in regions where there is a significant consanguinity within
the population, SLS is much more common (e.g., in the Haliwas of Halifax and Warren
Counties in North Carolina). Internationally, the same pattern is reproduced in
populations where consanguineous marriages are noted (e.g., Vasterbotten and Norrbotten
County in Sweden). In these two regions, it has been discovered that a mutation was
introduced around the 13th century. The prevalence of patients with SLS in northern
8.3 cases per 100,000 births, whereas the prevalence of heterozygotes is 2% and the
gene frequency is 0.01%. The overall incidence in Sweden is estimated to be around 0.6
cases per 100,000 births. A lower incidence (<1 case per 100,000 births) has been
observed worldwide. Sjögren Larsson Syndrome is estimated at 1:1000 patients with mental
retardation and in 1:2500 pediatric dermatologic patients. It is not a fatal medical
condition because most patients do not show a progressive neurodegenerative course. There
is no apparent racial predilection as well as no sexual predilection. Onset is in the
newborn period, when symptoms usually begin and the first signs of the disease (first
ichthyosis, subsequent neurologic symptoms) appear. The latter form of the disease
develops in patients aged 4-30 months.
Autosomal recessive; gene mapped on 17p11.2;
multiple allelic variants exist.
Caused by a deficiency in fatty alcohol
oxidoreductase, which catalyzes the oxidation of medium-chain and long-chain
The disorder begins at birth with generalized ichthyosis
and erythroderma. As the child ages, the scale becomes darker without
erythema and is more pronounced around the umbilicus, neck, and flexures,
typically sparing the face.
Clinical features involve skin (dry skin, ichthyosis,
diffuse increased skin pigmentation, urticaria) and central nervous system (spastic
diplegia or tetraplegia, scissor gait, seizures, mental retardation, speech deficits).
Kyphosis, pigmentary retinal degeneration, and short stature are frequently
Evaluate neurological function
(clinical, CT/MRI scan, electroencephalography).
Regional anesthesia can be difficult
because of kyphosis and skin lesions that can be superinfected. Venous
access can be achieved generally without difficulty because skin lesions are generally
spare on the dorsum of the hands and feet.
Consider interaction between
antiepileptic treatment and anesthetic drugs.
Fernandez-Vozmediano JM, Armario-Hita JC, Gonzalez-Cabrerizo A:
Sjögren-Larsson syndrome: Treatment with topical calcipotriol. Pediatr Dermatol
Rizzo WB, Carney G, Lin Z: The molecular basis of Sjögren-Larsson
syndrome: Mutation analysis of the fatty aldehyde dehydrogenase gene. Am J Hum Genet
Van Mieghem F, Van Goethem JW, Parizel PM, et al: MR of the brain in Sjogren-Larsson
syndrome. AJNR Am J Neuroradiol 18:1561, 1997.
Willemsen MA, Ijlst L, Steijlen PM, et al: Clinical, biochemical and
molecular genetic characteristics of 19 patients with the
Sjögren-Larsson syndrome. Brain 124(pt 7):1426, 2001.