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

V Moosbrugger-Martinz, A Jalili, AS Schossig, K Jahn-Bassler, J Zschocke, M Schmuth, G Stingl, Katja-Martina Eckl, HC Hennies, R Gruber

Research output: Contribution to journalArticle

5 Citations (Scopus)

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.
Original languageEnglish
Pages (from-to)1628-1632
JournalBritish Journal of Dermatology
Volume172
Issue number6
Early online date15 Nov 2014
DOIs
Publication statusPublished - 15 Mar 2015

Fingerprint Dive into the research topics of 'Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA.'. Together they form a unique fingerprint.

  • Cite this

    Moosbrugger-Martinz, V., Jalili, A., Schossig, AS., Jahn-Bassler, K., Zschocke, J., Schmuth, M., Stingl, G., Eckl, K-M., Hennies, HC., & 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), 1628-1632. https://doi.org/10.1111/bjd.13545