Sjögren–Larsson Syndrome- AR, FALDH gene defect (encoding fatty aldehyde dehydrogenase) → involved in synthesis of epidermal lipids and catabolism of sphingolipids in the brain
- Presents at or near birth with erythema, generalized ichthyosis and pruritus → evolves into dark scales on lower abdomen, flexures, and neck with persistent pruritus, palmoplantar keratoderma (PPK)
- Ichthyosis, spastic ditetraplegia (scissor gait), MR, perifoveal “glistening white dots” in ocular fundus
| | | | | | SJOGren – Showy Glistening white dots
sJOGren – think of trying to JOG with a spastic gait | | | | | |
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