Ichthyosis linearis circumflexa with bamboo hair: challenges in the diagnosis and management
نویسندگان
چکیده
منابع مشابه
Netherton 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 ...
متن کاملIchthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome.
Ichthyosis linearis circumflexa (ILC) presents as serpiginous and migratory erythematous patches with double-edged scales. ILC is rarely an isolated skin manifestation, but most commonly a part of Netherton syndrome (NS). NS is caused by SPINK5 mutations, which lead to absent or sometimes reduced expression of the serine protease inhibitor LEKTI. NS is characterised by congenital ichthyosiform ...
متن کاملTrichoscopy 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 کاملInfliximab 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...
متن کامل[Netherton syndrome].
The authors reported a case of Netherton's syndrome. This patient presented cutaneous lesions of ichthyosis linearis circumflexa, tricorrexis invaginata and atopy signs associated with cystinuria. Cutaneous and hair lesions were treated with etretinate.
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ژورنال
عنوان ژورنال: BMJ Case Reports
سال: 2017
ISSN: 1757-790X
DOI: 10.1136/bcr-2017-220227