Ichthyosis linked to sphingosine 1-phosphate lyase insufficiency is due to aberrant sphingolipid and calcium regulation
Sphingosine 1-phosphate lyase (SGPL1) insufficiency (SPLIS) is a syndrome which presents with adrenal insufficiency, steroid-resistant nephrotic syndrome, hypothyroidism, neurological disease, and ichthyosis.Where a skin phenotype gruvi golden lager is reported, 94% had abnormalities such as ichthyosis, acanthosis, and hyperpigmentation.To elucidat