Neurodegeneration with Trichorrhexis Invaginata
نویسندگان
چکیده
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...
متن کامل[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 ...
متن کاملNetherton syndrome with ichthyosis linearis circumflexa and trichorrhexis invaginatum.
Netherton syndrome is a rare, autosomal recessive disorder that is characterized by congenital ichthyosis, trichorrhexis invaginata, and atopic diathesis. Ichthyosis presents at birth with erythroderma and subsequently evolves into ichthyosis linearis circumflexa; hair shaft abnormalities tend to present later. The disorder is caused by loss-of-function mutations in the SPINK5 (serine protease ...
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how to cite this article: tonekaboni sh, mollamohammadi m. neurodegeneration with brain iron accumulation: an overview. iran j child neurol. 2014 autumn;8(4): 1-8. abstract objective neurodegeneration with brain iron accumulation (nbia) is a group of neurodegenerative disorder with deposition of iron in the brain (mainly basal ganglia) leading to a progressive parkinsonism, spasticity, dystonia...
متن کاملNoonan 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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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1993
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-7-1-13