Netherton's syndrome in siblings

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 er ythroderma, and hypernatraemic dehydration which she had for several days. Subsequently, she failed to thrive, with recurrent bacterial infections unt il 5 months of age, and very high serum IgE levels (1200 U/mL). Trichorrhex is invaginata and pill torti were identified at 18 months. The second patie nt was the younger brother of the first, Hydramnios and hyperechoic materia l 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, n o hair abnormality was demonstrated but, like his sister, his body was cove red with thick caseous material, and he was erythrodermic. He failed to thr ive, but serum IgE levels were normal until 5 months of age. Typical tricho rrhexis invaginata was not observed until 7 months of age, Thus, the hair a bnormality and high serum IgE levels in Netherton's syndrome appear late re lative to the ichthyosiform erythroderma.