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.
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