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ELOVL4-sEDD

Previously: Ichthyosis, spastic quadriplegia and mental retardation (ISQMR)

sEDD Gene: ELOVL4 AR

Onset: Birth

Pathway: Lipid synthesis and transport

Category Paper: sEDD Paper

Key Clinical Clues

Collodion membrane or generalized erythema with scaling.

Additional Cutaneous Features

Later: Thick dry, nonpruritic scaling skin.

Additional Extracutaneous Features

Spastic di- or quadriplegia, seizures, hypertonia, contractures; intellectual and developmental delay; optic atrophy and failure to track; failure to thrive; death during infancy.

References

Aldahmesh MA, Mohamed JY, Alkuraya HS et al. Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. Am J Hum Genet 2011; 89:745-50. || Vasireddy V, Uchida Y, Salem N et al. Loss of functional ELOVL4 depletes very long-chain fatty acids (> or =C28) and the unique omega-O-acylceramides in skin leading to neonatal death. Hum Mol Genet 2007; 16:471-82.

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