抽象的な

A case report: Sjogren Larsson Syndrome

Desale Snehal, Gugle Anil*,Kote Rahul, andJadhav Vikrant

Sjogren-Larsson Syndrome (SLS) is an autosomal recessive disorder with 100% penetrance. It has a characteristic set of clinical features, ichthyosis, spastic diplegia, and severe learning difficulties. To educate the patients about the treatment of dry skin and proper counseling regarding the genetic basis of disease are needed. The recent discoveries of the responsible biochemical abnormalities have explained the underlying links between the neurological and the dermatological manifestations. Its early diagnosis can help the physician to institute proper supportive treatment and possible curative gene therapy. Hence, ichthyosis cases must be investigated thoroughly. We report a case of 19-year-old Indian male patient with clinical features favoring the rare disease, Sjogren-Larsson syndrome (SLS).