Abstract
Nephrotic syndrome (NS) associated with autosomal recessive congenital ichthyosis
(ARCI) is a rare association. In this article, we described a 4-year-old boy with
steroid-resistant NS (SRNS) who had a history of ichthyotic skin lesions since birth.
Renal biopsy revealed focal segmental glomerulosclerosis (tip variant). The skin biopsy
was consistent with the findings of ichthyosis. Next-generation sequencing revealed
a homozygous pathogenic variant (c.1625_1626del) in the exon 12 of the ALOX12B gene, confirming the diagnosis of ARCI2. The ALOX12B gene belongs to the lipoxygenase family and has a pivotal role in the formation of
lipid layers in the epidermis. Leukotrienes have a counter-regulatory effect within
the inflamed glomeruli, which influences the vascular tone and glomerular basement
membrane permeability, that can be implicated in the pathogenesis of the NS. This
child is currently in remission, on tacrolimus and low-dose prednisolone, with emollients
and is on regular follow-up. SRNS associated with congenital ichthyosis secondary
to a mutation in the ALOX12B gene has never been reported so far. The knowledge regarding this novel association
will help the treating physicians in diagnosing this condition early, which will enable
proper genetic counseling and prognostication of the disease to the family.
Keywords autosomal recessive congenital ichthyosis - calcineurin inhibitors - focal segmental
glomerulosclerosis - nephrotic syndrome
