1.
Int J Dermatol
; 60(3): 368-371, 2021 Mar.
Artículo
en Inglés
| MEDLINE
| ID: mdl-33319372
RESUMEN
Ichthyosis prematurity syndrome (IPS) is a rare type of syndromic autosomal recessive congenital ichthyosis (ARCI) caused by a mutation in the SLC27A4 gene that encodes the fatty acid transport protein 4 (FATP4), which is responsible for keratinocyte differentiation and skin barrier function. IPS is characterized by a triad of prematurity, perinatal respiratory asphyxia, and thick vernix caseosa-like scales. In this report, we present the clinical and molecular characterization of IPS in two Omani siblings.