Sjogren-Larsson Syndrome: Case Study of a 9-Year-Old Boy
March 2005
in “
Journal of The American Academy of Dermatology
”
Sjogren-Larsson syndrome flexural ichthyosis lower extremity spasticity acanthosis hyperkeratosis granular layer fatty aldehyde dehydrogenase deficiency plasma cholesterol sulfate perifoveal glistening white dots autosomal recessive lipid synthesis lipid catabolism spasticity learning disability chronic pruritus ichthyosis chronic itching
Studysummary This report describes a case of Birt-Hogg-Dube syndrome with manifestations including multiple fibrofolliculomas, acrochordons, and renal oncocytoma. Our plain-language summary of this paper — not a Tressless recommendation.
The document presents a case of Sjogren-Larsson syndrome in a 9-year-old boy who had been followed since he was 4 months old. The boy's congenital symptoms included flexural ichthyosis and lower extremity spasticity, with no remarkable family history. A biopsy taken at 4 months showed acanthosis, hyperkeratosis, and a prominent granular layer. Laboratory tests revealed a deficiency in fatty aldehyde dehydrogenase but normal levels of plasma cholesterol sulfate, leading to the diagnosis of Sjogren-Larsson syndrome. The patient did not exhibit the typical perifoveal glistening white dots upon retinal examination. The syndrome is a rare autosomal recessive condition caused by a deficiency in fatty aldehyde dehydrogenase, which is important for lipid synthesis and catabolism. The document reviews the condition, provides photographs of the patient, and discusses the management of the patient's symptoms, including spasticity, learning disability, chronic pruritus, and ichthyosis. There is no disclosure of conflicts of interest.
