Netherton syndrome is an inherited, autosomal recessive skin disease characterized by ichthyotic erythroderma, characteristic hair anomaly (trichorrhexia invaginata), growth retardation and atopic manifestations. Authors will describe the clinical characteristics and diagnosis of Netherton syndrome.
In this report, we present 4 cases of Netherton syndrome (2 girls and 2 boys) who were consulted at an average age of 22 months for the extent of erythroderma and infectious events. The diagnosis of Netherton Syndrome was established by immunohistochemistry.
Consanguinity was found in one case. The average beginning age of symptoms was 14 months with non-blistered pruritic erythroderma (n=4), itchy skin (n=4), growth retardation (n=2), recurrent ear infection (n=1), bamboo hair (n=1), signs of atopy (n=2) and sepsis (n=1). The IgE level is high in two cases (sex ratio=0.5). The clinical differential diagnosis essentially included Ommen syndrome and Netherton syndrome. Immunohistochemistry showed a LEKTI deficiency that confirmed the diagnosis of Netherton syndrome.
In all cases, therapeutic support was based on the treatment of infectious events and symptomatic skin treatment with emollients and antihistamines. Three children died and the other was lost sight of.
Netherton syndrome is a very rare severe immune deficiency with erythroderma and recurrent infections. Immunohistochemistry of LEKTI protein allows a fast diagnosis.