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September 2016

Ichthyosis Prematurity Syndrome: From Fetus to Adulthood

Author Affiliations
  • 1St John’s Institute of Dermatology, King’s College London, Guy’s Campus, London, England
  • 2Viapath, St Thomas’ Hospital, London, England
JAMA Dermatol. 2016;152(9):1055-1058. doi:10.1001/jamadermatol.2016.1187

Ichthyosis prematurity syndrome (IPS) is a rare form of autosomal recessive congenital ichthyosis caused by mutations in SLC27A4 (OMIM: 604194) encoding fatty acid transport protein 4 (FATP4) that affect keratinocyte differentiation and skin barrier formation. It is characterized by prematurity, thick caseous desquamating epidermis, and perinatal respiratory asphyxia. Despite its well-described clinical features and major perinatal mortality risk, IPS is still rarely recognized, and only a few cases have been reported.

The female proband was first diagnosed with IPS as a 22-week-old fetus by amniocentesis and fetal skin biopsy, which was performed because her older brother was born prematurely at 33 weeks’ gestation, owing to maternal polyhydramnios, and died at age 12 hours with ichthyosis and pulmonary obstruction. The proband’s amniotic fluid contained numerous abnormal corneocytes and debris (Figure 1A). Histologic analysis of her fetal skin revealed hyperkeratosis and acanthosis with follicular plugging (Figure 1B). Transmission electron microscopy demonstrated perinuclear swelling of keratinocytes (Figure 1C) and lipid profiles with curved trilamellar lamellae in the horny layer (Figure 1D). All of these findings are characteristic of IPS.