NETHERTON-SYNDROME - A SEVERE NEONATAL DISEASE - A CASE-REPORT

A male infant was born with generalized erythroderma and scaling; the newborn demonstrated poor neonatal development and developed several c omplications such as hypernatremic dehydration, septicemia, gastroente ritis and seizures. In the neonatal period, the erythema faded, but ex foliation persisted. The parents are healthy but related. One older br other, who died at the age of 3 months, had shown the same clinical pi cture in the neonatal period and was diagnosed with congenital psorias is. All clinical investigations, including serum immunoglobulins, comp lement levels and lymphocyte counts, were normal. Only raised total Ig E and multiple positive specific IgE reactions were noted. Skin biopsy revealed an image of ichthyosis. Polarization microscopy of scalp hai r showed trichorrhexis nodosa and discrete focal twisting of the hair shaft. This clinical picture and all histological findings are compati ble with the indications of Netherton's syndrome. The purpose of this report is to call attention to this severe presentation of congenital ichthyosis in the neonatal period and to the difficulty of a correct d iagnosis when confronted with congenital erythroderma.