SLC27A4-nEDD

Previously: Ichthyosis prematurity syndrome

nEDD Gene: SLC27A4 AR

Onset: Birth

Pathway: Lipid synthesis and transport

Category Paper: nEDD Paper

SLC27A4-nEDD: this neonate was born prematurely weighing 1990g after ultrasound evaluation in the second trimester of pregnancy showed polyhydramnios. Severe respiratory distress was noted at birth and at day 1 of age, the thick caseous desquamating skin was noted on scalp, back and extremities.

Key Clinical Clues

Thick, vernix-like covering at birth, especially on scalp, prematurity, neonatal respiratory distress, eosinophilia, persistent pruritus.

Additional Cutaneous Features

Symptoms likely secondary to massive desquamation in utero.

Additional Extracutaneous Features

Prematurity and neonatal asphyxia.

References

Klar J, Schweiger M, Zimmerman R et al. Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. Am J Hum Genet 2009; 85:248-53. || Esperón-Moldes US, Ginarte M, Santamariña M et al. Novel compound heterozygous FATP4 mutations caused ichthyosis prematurity syndrome in Spanish sisters. Acta Paediatr 2019; 108:763-5. || Sobol M, Dahl N, Klar J. FATP4 missense and nonsense mutations cause similar features in ichthyosis prematurity syndrome. BMC Res Notes 2011; 4:90.

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