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UGCG-sEDD

Previously: Ichthyosis, congenital, autosomal recessive 15

sEDD Gene: UGCG AR

Onset: Birth (early lethal)

Pathway: Lipid synthesis and transport

Category Paper: sEDD Paper

Key Clinical Clues

Collodion membrane; hypernatraemic renal failure; neurological issues and early death.

Additional Cutaneous Features

Collodion membrane with joint contractures. Later: Generalized erythroderma with oedema and desquamation of fine, thin scale.

Additional Extracutaneous Features

Severe neurological issues with spasticity, hypotonia and contractures; recurrent ocular inflammation; lethal before 1 year.

References

Monies D, Anabrees J, Ibrahim N et al. Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP-glucose ceramide glucosyltransferase deficiency. Clin Genet 2018; 93:1252-3.

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