نتایج جستجو برای: bullous ichthyosiform erythroderma
تعداد نتایج: 15264 فیلتر نتایج به سال:
References 1 Fischer J. Autosomal recessive congenital ichthyosis. J Invest Dermatol 2009; 129: 1319–1321. 2 Akiyama M, Takizawa Y, Kokaji T, et al. Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma. Br J Dermatol 2001; 144: 401–407. 3 Herman ML, Farasat S, Steinbach PJ, et al. Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of...
Sir, Chanarin‐Dorfman syndrome (CDS) is a rare inherited disorder characterized by congenital ichthyosis, nonbullous ichthyosiform erythroderma, myopathy, and hepatic involvement with deposition of neutral lipids in skin, muscle, liver, central nervous system, and granulocytes. Variable skin and systemic involvement makes diagnosis difficult in some cases wherein an easy screening tool in the f...
The ABCA12 gene encodes an ATP-binding cassette transporter vital to skin barrier function. In keratinocytes, transports ceramides into the lumen of lamellar bodies as part widely conserved water system. Alterations in are associated with autosomal recessive congenital ichthyoses: harlequin ichthyosis, non-bullous ichthyosiform erythroderma, and ichthyosis. We report a 4-month-old female who pr...
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