Sjogren-Larsson syndrome is an autosomal recessive neurocutaneous disorder. The underlying enzymatic deficiency is in:

• A Steroid sulfatase
• B Arylsulfatase E
• C Transglutaminase 1
• D Fatty aldehyde dehydrogenase (FALDH) ✓

Explanation

Sjogren-Larsson syndrome classically presents with the triad of congenital ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. It results from deficiency of fatty aldehyde dehydrogenase (FALDH), leading to accumulation of fatty alcohols and long chain aldehydes. Steroid sulfatase deficiency causes X-linked ichthyosis. Transglutaminase 1 deficiency causes lamellar ichthyosis.

Reference: Harper's Textbook of Pediatric Dermatology, 4th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.