A child with congenital ichthyosis and Netherton syndrome

Nerthenton syndrome (NS) is a rare autosomal recessive disease characterised by congenital ichthyosiform erythroderma, excessive desquamation, atopic diathesis (elevated serum IgE), specific hair shaft abnormality (trichorrhexis invaginata) and failure to thrive. The incidence of NS is estimated to affect 1 in 200,000 children and, if this severe skin condition is missed, they have a high risk of secondary infection through skin lesions. This may lead to severe sepsis and death. Patients with NS are usually treated at home by parents who are instructed to take care of the child’s skin, with the supervision of a dermatologist. We report a case of an infant girl with erythroderma since birth, who was diagnosed with congenital ichthyosis, a positive family history and suspected NS, which eventually was confirmed by genetic testing. The patient presented in an outpatient clinic of the Children’s Clinical University Hospital in Riga, with very poor weight gain, generalised erythroderma and fine scales. The patient was immediately hospitalised, received proper feeding and skin care. The patient was discharged from hospital after 31 days in a generally good condition, with new instructions to parents who were recommended to have a dermatologist follow-up in two weeks. No cure or satisfactory treatment of NS is currently available. NS should be a differential diagnosis in cases of elevated IgE and congenital ichthyosiform erythroderma. NS can be a life-threatening condition due to secondary infection and challenging nutritional status.