Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
نویسنده
چکیده
Netherton Syndrome (AKABamboo Hair Syndrome) is a non treatable, Autosomal Recessive Disorder of infancy and childhood, so has no sex predilection. Family history may reveal consanguinity. There is triad A] Ichthyosiform linearis circumflexa B] Hair Shaft Defect like trichorrhexis invaginata & C] Atopic Diathesis. Caused by mutation in Serine Protease Inhibitor Kazal type 5 gene (SPINK5), which is predominantly expressed in the lamellar granules of epithelia and lymphoid tissue.
منابع مشابه
Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome*
Netherton syndrome is a rare autosomal recessive disease characterized by erythroderma, ichthyosis linearis circumflexa, atopy, failure to thrive and a specific hair shaft abnormality called trichorrhexis invaginata or bamboo hair, considered pathognomonic. We report the case of a 4-year-old boy with erythroderma since birth, growth deficit and chronic diarrhea. Trichoscopy was used to visualiz...
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Background: Netherton syndrome is a rare autosomal recessive disorder consisting of ichthyosiform dermatosis, hair shaft abnormalities and an atopic diathesis that presents as widespread erythematous skin. The aim of these reports is emphasis on the importance of the examination of hair as a diagnose route. Case presentation: Case 1: A 6 months old boy with respiratory distress and severe eryth...
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Netherton syndrome is a rare autosomal recessive condition with variable expression. It comprises an ichthyosiform dermatitis and erythroderma of variable intensity associated with hair abnormalities and features of atopy. The pathognomic (required for diagnosis) feature is trichorrhexis invaginata identified by microscopic examination of hair shaft. Ichthyosis linearis circumflexa is ano...
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Netherton syndrome is a very rare disorder characterized with icthyosis, atopy, bamboo hair and intermittant aminoaciduria. The specifity of clinical and histopathological features of netherton syndrome is low in neonates and young infants who presents with predominating erythrodermia. Being the youngest infant presenting with the symptoms of infantile asthma we found it worth to report a six m...
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