Comèl-Netherton syndrome defined as primary immunodeficiency
نویسندگان
چکیده
منابع مشابه
[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.
متن کاملNetherton syndrome: report of two cases
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...
متن کاملTwo Case Reports of Netherton Syndrome: Hair Shaft Examination Is Known As a Diagnostic Test
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...
متن کاملLEKTI: Netherton Syndrome and Atopic Dermatitis
In 1958, Netherton described the bamboo-like deformity in the fragile hairs in a girl with erythematous scaly dermatitis.[2] In 1985, Greene and Muller emphasized the triad of Netherton syndrome: ichthyosis, atopy, and trichorrhexis invaginata.[3] In 2000, Chavanas et al. identified eleven different mutations in SPINK5 in 13 families with Netherton syndrome.[4] Their finding disclosed a critica...
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ژورنال
عنوان ژورنال: Journal of Allergy and Clinical Immunology
سال: 2009
ISSN: 0091-6749
DOI: 10.1016/j.jaci.2009.06.009