[Sjogren-Larsson syndrome: two cases with delayed diagnosis].
BACKGROUND
Sjögren-Larsson syndrome (SJS) is an autosomal-recessive disorder. Patients suffer from congenital ichtyosis, mental retardation and symmetric spastic paralysis. Ichtyosis is usually pronounced and associated with erythroderma. Neurological manifestations occur usually between 4 and 13 months of age. This genetic disease is due to fatty acid aldehyde dehydrogenase (FALDH) deficiency, leading to an accumulation of long-chain alcohols. The gene has been mapped to chromosome 17.


METHODS
A 52-year-old woman was hospitalized because of a severe erythroderma with ichtyosis. She suffered from epilepsy, spastic diplegia and mental retardation (Little disease has been diagnosed). The association of spastic paraparesia and ichtyosiform erythroderma suggested the diagnosis of SJS. This was confirmed by the very low level of FALDH activity. A 27-year-old patient was hospitalized for the recent onset paraparesia. Erythematous patches were observed on arm pits and buttocks. The diagnosis of SJS was not confirmed by FALDH assay.


CONCLUSIONS
Diagnosis of Sjögren-Larsson syndrome is a very rare disease in France. It is useful to evoke the diagnosis when spastic paraparesia is associated with these unusual cutaneous signs.
Misery
Laurent
L
Service de Dermatologie, Hôpital Morvan, Cedex, France. laurent.misery@chu-brest.fr
Antoine
Jean-Christophe
JC
Touraine
Renaud
R
Wanders
Ronald
R
Maitre
Séverine
S
Has
Christina
C
Perrot
Jean-Luc
JL
Cambazard
Frédéric
F
D000328:Adult; D000445:Aldehyde Oxidoreductases / Q000032:analysis / Q000494:pharmacology; D003873:Dermatitis, Exfoliative / Q000209:etiology*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D008875:Middle Aged; D020336:Paraparesis, Spastic / Q000209:etiology*; D016111:Sjogren-Larsson Syndrome / Q000150:complications* / Q000473:pathology
D000445:Aldehyde Oxidoreductases; C038828:long-chain-aldehyde dehydrogenase