RESUMO
BACKGROUND: Ichthyosis prematurity syndrome is a rare syndromic form of ichthyosis caused by mutations in FATP4, which plays a central role in the transport and activation of fatty acids in the epidermis and in epidermal barrier function. Despite stereotypical clinical presentation in the neonatal period, the diagnosis is not well known by clinicians. Herein we report two new cases. PATIENTS AND METHODS: Case no. 1: a boy born prematurely (33weeks of gestation) to non-consanguineous French parents presented at birth with respiratory distress necessitating admission to intensive care. His skin was covered by a thick caseous vernix, especially on the scalp, eyebrows and 4 limbs. At the age of 4years, the boy's skin appeared normal. Case no. 2: a boy born prematurely to consanguineous Moroccan parents (34weeks of gestation) presented at birth with respiratory distress requiring admission to intensive care. At clinical examination, he had a whitish thick skin giving an impression of vernix caseosa, with involvement of the scalp, forehead, 4 limbs and abdomen. At the age of 2 years, his skin was normal. CONCLUSION: The clinical presentation of this syndrome is typical. It is important to make the diagnosis to enable genetic counseling and planning of adequate neonatal care in the event of future pregnancies.