Comèl-Netherton syndrome –
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 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...
متن کاملBamboo 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...
متن کاملNetherton Syndrome, a Case Report and Review of Literature
Netherton Syndrome (NS) is a rare hereditary autosomal recessive multisystem disorder which presents with generalized erythroderma at birth or soon after[1]. Its incidence is estimated to be 1/200,000[2]. NS presents in most (but not all) patients with generalized erythroderma and scaling resembling congenital ichthyosiform erythroderma, or continuous peeling of the skin[3]. Other common featur...
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ژورنال
عنوان ژورنال: Dermatology Review
سال: 2014
ISSN: 0033-2526
DOI: 10.5114/dr.2014.46950