Netherton syndrome symptoms, causes, diagnosis, and treatment information for netherton syndrome netherton syndrome ichthyosis with alternative diagnoses, fulltext book chapters, misdiagnosis, research treatments, prevention, and prognosis. Netherton syndrome is an inherited, autosomal recessive, multisystemic condition, primarily affecting the skin, hair and immune system, with an incidence estimated at 1200 000. This membrane is usually shed during the first few weeks of life. Netherton syndrome is a rare hereditary disorder characterized by scaling skin, hair anomalies, increased susceptibility to atopic eczema a skin condition that can result in dry, red and flaky skin, elevated ige levels, and other related symptoms. Wir prasentieren einen didaktisch sehr wertvollen kasus des klinischen vollbildes eines nethertonsyndroms. Netherton syndrome ns is a congenital disorder that affects the skin, hair, and immune system.
Netherton syndrome ns is a rare hereditary autosomal recessive disorder with ichthyosiform cutaneous lesions, specific hair. Netherton syndrome nts is an autosomal recessive congenital ichthyosis featuring chronic inflammation of the skin, hair anomalies, epidermal hyperplasia with an impaired epidermal barrier function, failure to thrive and atopic manifestations. Charakteristische symptome sind kongenitale ichthyosiforme erythrodermie cie, ein distinkter defekt des. The diagnosis of netherton syndrome was not made until the child was 8 years of age.
In older children and adults the scaling may have a distinctive circular pattern ichthyosis linearis circumflexa. Netherton syndrome is a severe autosomal recessive skin disorder characterized by congenital erythroderma, a specific hairshaft abnormality, and atopic manifestations with high ige levels. Enable javascript to view the expandcollapse boxes. We report an 8yearold boy with netherton syndrome who was misdiagnosed and treated as severe atopic dermatitis. Are you unsure if your child has ns, have a read of some information below, it will explain to you a few facts from various sources about the condition. Ns presents in most but not all patients with generalized erythroderma and scaling resembling congenital ichthyosiform erythroderma, or continuous peeling of the skin. Here we describe the intronexon organization of the. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. Netherton syndrome should be at the top of the differential diagnosis list in a newborn with erythroderma and abnormallooking scalp hair, or in an older child with ichthyosis linearis circumflexa and sparse lustreless hair.
Pascal descargues, celine deraison, chrystelle bonnart. An 8yearold child with delayed diagnosis of netherton. Pdf netherton syndrome is a severe autosomal recessive skin disorder characterized by congenital erythroderma, a specific hairshaft. However in 1996, ginzberg et al described hepatic steatosis in two babies with netherton syndrome and no alternative risk factors. Netherton syndrome is a less common form of ichthyosis. The aromatic retinoid, etretinate, although initially worsened the eczematous manifestations, proved to be capable of.
Netherton syndrome ns is a skin disorder characterized by congenital ichthyosiform erythroderma cie, a distinctive hair shaft defect trichorrhexis invaginata. We discuss the pitfalls in the diagnosis and alert physicians to the proper and early diagnosis of this syndrome. But in infants and younger children, the skin is more commonly red and scaly all over, lacking the distinctive circular pattern. To our knowledge, these are the first cases of almost complete nethertons syndrome in two adult brothers born of consanguineous parents. Pdf netherton syndrome is a severe autosomal recessive skin. Chronic skin inflammation results in scaling and exfoliation, predisposing these patients to lifethreatening infections, sepsis, and dehydration. Netherton syndrome ns is an autosomal recessive disorder characterized by congenital ichthyosis, trichorrhexis invaginata, and severe atopy. It is characterized by the triad of ichthyosiform dermatosis, alterations of the hair shaft and immunological disorders. Netherton 19101985, an american dermatologist who discovered it in 1958. Pdf netherton syndrome ns is a rare autosomal recessive disorder characterized by a triad of congenital ichthyosiform erythroderma cie. Netherton syndrome is a severe, autosomal recessive form of ichthyosis associated with mutations in the spink5 gene. Evidence in the legionella pneumophila genome for exploitation of host cell functions and high genome plasticity. Syndroms heute auch nur als nether tonsyndrom bezeichnet umfa.
The condition tends to last for a lifetime but the severity can vary from person to person. Some affected infants are born with a tight, clear sheath covering their skin. Nethertonsyndrom netherton syndrome thieme connect. Netherton syndrome ns is a rare autosomal recessive disorder characterized by a triad of congenital ichthyosiform erythroderma cie or ichthyosis linearis circumflexa ilc, hair shaft abnormalities, and atopic diathesis elevated serum ige. Netherton syndrome is a rare disease inherited as an autosomal recessive trait due to mutations in the spink5 gene. Pdf netherton syndrome ns is a rare autosomal recessive disorder. Netherton syndrome is a rare autosomal recessive genodermatosis characterized by congenital ichthyosiform erythroderma, trichorrhexis invaginata, and atopic diathesis with failure to thrive. We report a case of a twoyearold boy presented with intractable pruritus, scaling, dry skin and generalized eczematous lesions resistant to atopic.
The full text of this article is available in pdf format. Netherton syndrome ns is a rare hereditary autosomal recessive multisystem disorder which presents with generalized erythroderma at birth or soon after. Netherton syndrome is a disorder that affects the skin, hair, and immune system. The disease is caused by mutations in the spink5 gene encoding the serine proteinase inhibitor lymphoepithelial kazaltype inhibitor lekti. Netherton syndrome definition of netherton syndrome by. Examination of abnormal hair under microscope shows trichorrhexis invaginata defects of the hair shafts. Trichorrhexis invaginata netherton syndrome or bamboo.
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