Ceramide profile in hypohidrotic ectodermal dysplasia

J. M. Jungersted, Julie Kaae Høgh, Lars Hellgren, T. Agnert, G. B. E. Jemec

    Research output: Contribution to journalJournal articleResearchpeer-review


    Background. Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disease. The clinical presentation includes lack of sweating ability, and an often widely spread dermatitis resembling atopic dermatitis (AD). In AD, the skin‐barrier defect is partly ascribed to the altered lipid profile in the stratum corneum and partly to mutations of the filaggrin genes. To our knowledge, no data are available about the epidermal lipid profile of HED. Aim. To compare the ceramide profile for patients with HED and AD. Methods. The ceramide profile and ceramide/cholesterol ratio were compared between patients with HED (n = 7) and patients with AD (n = 21), using cyanoacrylate to take biopsy samples from the stratum corneum. Lipids were extracted from the biopsies and analysed using high‐performance thin‐layer chromatography. Results. The lipid profiles of HED and AD were similar in distribution, apart from ceramide 1, which was significantly higher in HED (P = 0.04). Conclusions. The increased ceramide 1 level found in HED compared with AD is known to play a role in the structure of the lipid bilayers. However, further studies are needed to identify the functional significance of these observations and thereby elucidate differences in the skin barrier between HED and AD.
    Original languageEnglish
    JournalClinical and Experimental Dermatology
    Issue number2
    Pages (from-to)153-155
    Publication statusPublished - 2012

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