Aims To describe a rare form of erythroderma in a neonate, the investigations undertaken and the progress to date of a rare and life threatening skin condition.

Methods Case report and review of the literature.

Results A term infant weighing 3.29 kg was born after an uncomplicated fourth pregnancy. At birth he had ichthyotic skin which desquamated leaving underlying erythroderma. Parents were distant cousins. Their first child died at 4 weeks of age and was known to have had abnormal skin at birth. Investigations during the third pregnancy excluded mutations for steroid sulphatase deficiency and Herlitz Junctional EB. His hair and nails appeared normal but he had persistent widespread erythroderma with areas of hyperkeratosis. Immune blood tests, a skin biopsy and hair samples were taken, none of which were diagnostic. The biopsy showed ‘epidermal hyperplasia with spongiosis and hypergranulosis’. The baby initially had mild respiratory distress, an abnormal chest x-ray and received broad spectrum antibiotics. He had an oxygen requirement for 2 weeks and at 4 weeks had not regained his birth weight. He then became septic and required intensive care and aggressive antibiotic therapy. During this episode he lost all his hair including eyebrows and a presumptive diagnosis was made. Further history revealed 12 neonatal deaths in close relatives. Genetic tests were performed on the baby and both parents and the infant was commenced on prophylactic antifungals, antibiotics and immunoglobulin therapy, in addition to his skin care. Despite these therapies he has had recurrent bacteraemias and episodes of hypernatraemia. Genetic tests confirmed a mutation in SPINK5 and a diagnosis of Netherton syndrome.

Conclusions Netherton syndrome is a rare autosomal recessive condition of unknown incidence, and comprises the triad of: ichthyosis linearis cicumflexa, trichorrexis invaginata and an atopic diathesis. Patients have been shown to have impaired B cell function. In addition to recurrent life threatening infections, other complications include hypernatraemia, faltering growth, chronic erythroderma, persistent cutaneous infections and enteropathy. This is a rare condition with high mortality and we present it as an unusual cause of neonatal erythroderma.