Pathogenesis in Trichorrhexis Invaginata (Bamboo Hair)

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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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Infliximab therapy for Netherton syndrome: A case report

KLK5: kallikrein 5 NS: Netherton syndrome PAR2: protease-activated receptor 2 SPINK5: serine protease inhibitor Kazal type 5 Th: helper T cell TNF: tumor necrosis factor TSLP: thymic stromal lymphopoietin INTRODUCTION Netherton syndrome (NS), also known as Com elNetherton syndrome, was clinically described in 1964 by Wilkinson et al and is characterized by the triad of ichthyosis linearis circu...

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Bamboo Hair Syndrome or Netherton Syndrome - A Case Report

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...

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Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis

We report a case of Noonan syndrome with loose anagen hair (NS/LAH), a rare variant of Noonan syndrome, with associated trichorrhexis nodosa and trichoptilosis. The SHOC2 mutation may be responsible for these additional hair shaft defects, revealing the importance of microscopic examination of hairs in these patients.

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[Localized trichorrhexis nodosa].

1. Barrera M, Bosch R, Mendiola M, Frieyro M, Castillo R, Fernández A, et al. Reactivación de la sífilis en Málaga. Actas Dermosifiliogr. 2006;97:323-6. 2. Dourmishev LA, Dourmishev AL. Syphilis: uncommon presentations in adults. Clin Dermatol. 2005;23:555-64. 3. Baniandrés Rodríguez O, Nieto Perea O, Moya Alonso L, Carrillo Gijón R, Harto Castaño A. Nodular secondary syphilis in a HIV patient ...

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ژورنال

عنوان ژورنال: Journal of Investigative Dermatology

سال: 1984

ISSN: 0022-202X

DOI: 10.1111/1523-1747.ep12261618