Netherton's syndrome in siblings

Abstract

We report the perinatal presentation and evolution of Netherton's syndrome in siblings. The first patient, a female infant, presented with asphyxia at birth due to aspiration of desquamated scale, non-bullous ichthyosiform erythroderma, and hypernatraemic dehydration which she had for several days. Subsequently, she failed to thrive, with recurrent bacterial infections until 5 months of age, and very high serum IgE levels (1200 U/mL). Trichorrhexis invaginata and pili torti were identified at 18 months. The second patient was the younger brother of the first. Hydramnios and hyperechoic material in the amniotic fluid were observed by ultrasound at 35 weeks gestation, and he was delivered by elective Caesarian section at 40 weeks. At birth, no hair abnormality was demonstrated but, like his sister, his body was covered with thick caseous material, and he was erythrodermic. He failed to thrive, but serum IgE levels were normal until 5 months of age. Typical trichorrhexis invaginata was not observed until 7 months of age. Thus, the hair abnormality and high serum IgE levels in Netherton's syndrome appear late relative to the ichthyosiform erythroderma.