Article
Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA.
The British journal of dermatology - 1 Jun 2015
Moosbrugger-Martinz V, Jalili A, Schossig A S, Jahn-Bassler K, Zschocke J, Schmuth M, Stingl G, Eckl K M, Hennies H C, Gruber R
Abstract excerpt
Autosomal recessive exfoliative ichthyosis (AREI) results from mutations in CSTA, encoding cysteine protease inhibitor A (cystatin A). We present a 25-year-old man from Iran with consanguineous parents, who presented with congenital erythroderma, hyperhidrosis and diffuse hyperkeratosis with coarse palmoplantar peeling of the skin, aggravated by exposure to water and by occlusion. Candidate gene analysis revealed...
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