ELOVL1-sEDD

Previously: Ichthyotic keratoderma-spastic paraplegia-hypomyelination-dysmorphic facies (IKSHD)

sEDD Gene: ELOVL1 AR,AD

Onset: Birth

Pathway: Lipid synthesis and transport

Category Paper: sEDD Paper

ELOVL1-sEDD: young girl with pruritic erythrodermic and scaling skin related to a heterozygous ELOVL1 c.494C > T (p.Ser165Phe) pathogenic variant (autosomal dominant).

Key Clinical Clues

Lichenified plaques; spastic paraplegia.

Additional Cutaneous Features

Generally thickened skin + lichenification, especially over joints; may have patchy, symmetric, migratory erythematous plaques.

Additional Extracutaneous Features

Spastic paraplegia, central nystagmus, high-frequency hearing loss, optic atrophy, mild facial dysmorphism.

References

Kutkowska-Kaźmierczak A, Rydzanicz M, Chlebowski A et al. Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features. J Med Genet 2018; 55:408-14. || Mueller N, Sassa T, Morales-Gonzalez S et al. De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy. J Med Genet 2019; 56:164-75. || Takahashi T, Mercan S, Sassa T et al. Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1. Brain Dev 2022; 44:391-400.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer