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Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA

Moosbrugger-Martinz, V., Jalili, A., Schossig, A.S., Jahn-Bassler, K., Zschocke, J., Schmuth, M., Stingl, G., Eckl, K.M., Hennies, Hans C. and Gruber, R. (2015) Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA. British Journal of Dermatology, 172 (6). pp. 1628-1632. ISSN 0007-0963

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Abstract

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 a previously unknown homozygous loss-of-function mutation c.172C>T (p.Arg58Ter) in CSTA, and immunostaining showed absence of epidermal cystatin A, confirming the diagnosis of AREI. Ultrastructural analysis by transmission electron microscopy showed normal degradation of corneodesmosomes, mild intercellular oedema in the spinous layer but not in the basal layer, normal-appearing desmosomes, and prominent keratin filaments within basal keratinocytes. Thickness of cornified envelopes was reduced, lamellar lipid bilayers were disturbed, lamellar body secretion occurred prematurely and processing of secreted lamellar body contents was delayed. These barrier abnormalities were reminiscent of (albeit less severe than in) Netherton syndrome, which results from a deficiency of the serine protease inhibitor LEKTI. This work describes ultrastructural findings with evidence of epidermal barrier abnormalities in AREI.

Item Type: Article
Additional Information: Unmapped bibliographic data: ST - Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA [Field not mapped to EPrints] AD - Department of Dermatology and Venereology, Medical University Innsbruck, Innsbruck, Austria. [Field not mapped to EPrints] AN - 25400170 [Field not mapped to EPrints]
Uncontrolled Keywords: Adult
Subjects: Q Science > QH Natural history > QH301 Biology
Q Science > QH Natural history > QH426 Genetics
Schools: School of Applied Sciences
Depositing User: Hans Hennies
Date Deposited: 06 Jul 2016 13:58
Last Modified: 29 Jul 2016 12:59
URI: http://eprints.hud.ac.uk/id/eprint/28757

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