Literature DB >> 73380

Epidermal abnormalities in Refsum's disease.

M G Davies, R Marks, P J Dykes, D Reynolds.   

Abstract

A female patient with severe Refsum's disease is described. She had striking ichthyosis and detailed investigations into the structure of the epidermis were performed. Light microscopy and transmission electron microscopy revealed lipid-containing vacuoles in the epidermis. Scanning electron microscopy of the stratum corneum showed disruption and the presence of microvilli on individual horn cells consistent with a high output state of epidermal cell production.

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Year:  1977        PMID： 73380     DOI： 10.1111/j.1365-2133.1977.tb14248.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


  3 in total

1.  Ultrastructure of skin from Refsum disease with emphasis on epidermal lamellar bodies and stratum corneum barrier lipid organization.

Authors:  G K Menon; E Orsó; Charalampos Aslanidis; D Crumrine; G Schmitz; Peter M Elias
Journal:  Arch Dermatol Res       Date:  2014-06-12       Impact factor: 3.017

Review 2.  Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.

Authors:  John D Gettelfinger; John P Dahl
Journal:  J Pediatr Genet       Date:  2018-01-04

3.  Cutaneous aspects of Refsum's disease.

Authors:  B C Ramsay; K Meeran; D Woodrow; M Judge; J J Cream; F Clifford Rose; F B Gibberd
Journal:  J R Soc Med       Date:  1991-09       Impact factor: 18.000
  3 in total

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