Netherton syndrome is an autosomalrecessive disorder resulting from a mutation in the spink5 gene, which encodes a serine protease inhibitor important in skin barrier formation and immunity. To our knowledge, these are the first cases of almost complete nethertons syndrome in two adult brothers born of consanguineous parents. Pdf netherton syndrome ns is a rare autosomal recessive disorder. 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. The aromatic retinoid, etretinate, although initially worsened the eczematous manifestations, proved to be capable of. An important feature of ns is that most patients are born with congenital ichthyosiform erythroderma, or scaly red skin see photograph of toddler below on left.
Current treatment options include emollients and topical antiinflammatory agents to minimize. We report an 8yearold boy with netherton syndrome who was misdiagnosed and treated as severe atopic dermatitis. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. Here we describe the intronexon organization of the. Netherton syndrome ns is a congenital disorder that affects the skin, hair, and immune system. Recently, we identified spink5, which encodes the serine protease inhibitor kazaltype 5 protein lekti, as the defective gene in netherton syndrome. Pascal descargues, celine deraison, chrystelle bonnart. Syndroms heute auch nur als nether tonsyndrom bezeichnet umfa. We report a case of a twoyearold boy presented with intractable pruritus, scaling, dry skin and generalized eczematous lesions resistant to atopic. However in 1996, ginzberg et al described hepatic steatosis in two babies with netherton syndrome and no alternative risk factors. Examination of abnormal hair under microscope shows trichorrhexis invaginata defects of the hair shafts.
Netherton syndrome definition of netherton syndrome by. The disease is caused by mutations in the spink5 gene encoding the serine proteinase inhibitor lymphoepithelial kazaltype inhibitor lekti. 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. Netherton syndrome ns is a skin disorder characterized by congenital ichthyosiform erythroderma cie, a distinctive hair shaft defect trichorrhexis invaginata. Netherton syndrome is inherited as an autosomal recessive trait. It is characterized by the triad of ichthyosiform dermatosis, alterations of the hair shaft and immunological disorders. 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. Netherton syndrome genetic and rare diseases information. 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, autosomal recessive, icthyosis. Ns presents in most but not all patients with generalized erythroderma and scaling resembling congenital ichthyosiform erythroderma, or continuous peeling of the skin. Charakteristische symptome sind kongenitale ichthyosiforme erythrodermie cie, ein distinkter defekt des.
Netherton syndrome ns is a rare hereditary autosomal recessive multisystem disorder which presents with generalized erythroderma at birth or soon after. Nethertonsyndrom netherton syndrome thieme connect. Newborns with netherton syndrome have skin that is red and scaly ichthyosiform erythroderma, and the skin may leak fluid. Wir prasentieren einen didaktisch sehr wertvollen kasus des klinischen vollbildes eines nethertonsyndroms. Netherton syndrome is a disorder that affects the skin, hair, and immune system. The diagnosis of netherton syndrome was not made until the child was 8 years of age. Netherton syndrome is an inherited, autosomal recessive, multisystemic condition, primarily affecting the skin, hair and immune system, with an incidence estimated at 1200 000. Netherton syndrome ns is a rare hereditary autosomal recessive disorder with ichthyosiform cutaneous lesions, specific hair.
Netherton syndrome is a rare autosomal recessive genodermatosis characterized by congenital ichthyosiform erythroderma, trichorrhexis invaginata, and atopic diathesis with failure to thrive. Pdf netherton syndrome is a severe autosomal recessive skin disorder characterized by congenital erythroderma, a specific hairshaft. But in infants and younger children, the skin is more commonly red and scaly all over, lacking the distinctive circular pattern. An 8yearold child with delayed diagnosis of netherton. Enable javascript to view the expandcollapse boxes. Chronic skin inflammation results in scaling and exfoliation, predisposing these patients to lifethreatening infections, sepsis, and dehydration. In older children and adults the scaling may have a distinctive circular pattern ichthyosis linearis circumflexa. Netherton 19101985, an american dermatologist who discovered it in 1958. Netherton syndrome is a severe, autosomal recessive form of ichthyosis associated with mutations in the spink5 gene. Netherton syndrome ns is a rare inherited skin condition, often present at birth or in the first few weeks of life where the skin is very red with fine dry scales. This membrane is usually shed during the first few weeks of life. Pdf netherton syndrome ns is a rare autosomal recessive disorder characterized by a triad of congenital ichthyosiform erythroderma cie.
Pdf netherton syndrome is a severe autosomal recessive skin. Nonalcoholic steatohepatitis associated with netherton. A 23year old female presented with the classical triad of ichthyosis linearis circumflexa, trichorrhexis invaginata with bamboo hairs of up to 12 cm length and atopic diathesis. Netherton syndrome is a severe autosomal recessive skin disorder characterized by congenital erythroderma, a specific hairshaft abnormality, and atopic manifestations with high ige levels. Trichorrhexis invaginata netherton syndrome or bamboo. Evidence in the legionella pneumophila genome for exploitation of host cell functions and high genome plasticity. 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 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. Netherton syndrome is a rare disease inherited as an autosomal recessive trait due to mutations in the spink5 gene. Some affected infants are born with a tight, clear sheath covering their skin. The condition tends to last for a lifetime but the severity can vary from person to person. Netherton syndrome is a less common form of ichthyosis. Netherton syndrome ns is an autosomal recessive disorder characterized by congenital ichthyosis, trichorrhexis invaginata, and severe atopy. We discuss the pitfalls in the diagnosis and alert physicians to the proper and early diagnosis of this syndrome.
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