Epidermal abnormalities in Refsum's disease

@article{Davies1977EpidermalAI,
  title={Epidermal abnormalities in Refsum's disease},
  author={M. G. Davies and Ronald Marks and Peter J. Dykes and David J. Reynolds},
  journal={British Journal of Dermatology},
  year={1977},
  volume={97}
}
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. 
Inherited ichthyoses: a review of the histology of the skin.
  • I. Scheimberg, J. Harper, M. Malone, B. Lake
  • Medicine
    Pediatric pathology & laboratory medicine : journal of the Society for Pediatric Pathology, affiliated with the International Paediatric Pathology Association
  • 1996
TLDR
The histology of skin biopsies from 46 cases of different forms of congenital ichthyosis was reviewed and combined studies including routine histopathology, electron microscopy, and frozen sections may be required for the diagnosis.
Cutaneous Aspects of Refsum's Disease
TLDR
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Epidermal metabolism in heredopathia atactica polyneuritiformis (Refsum's disease).
TLDR
The in vivo labeling index and the in vitro rates of incorporation of radioactively labeled thymidine, proline, histidine and acetate were increased relative to normal indicating a high rate of epidermopoiesis, probably a reflection of disordered keratinization.
Ultrastructure of skin from Refsum disease with emphasis on epidermal lamellar bodies and stratum corneum barrier lipid organization
TLDR
In conclusion, abnormal LB contents, resulting in defective lamellar bilayers, as well as reduced CLEs, likely lead to impaired barrier function in RD.
Disorders of Keratinization
This term is used to describe disorders in which there is a primary fault in the process of epidermal differentiation and (or) desquamation. It includes the ichthyotic disorders and a number of other
Congenital Ichthyosis in Pediatric Age Group: A Clinical study
TLDR
The incidence of congenital ichthyosis in pediatric age group in Institute of child health, Government General Hospital, Chennai during the period of two years between september 2005 and September 2007 was 6 per 1000.
The history of genodermatoses.
The ichthyoses--pathogenesis and prenatal diagnosis: a review of recent advances.
TLDR
Improvements in the ability to prenatally diagnose the various ichthyoses will advance hand‐in‐hand with further progress in unraveling their underlying causes, and shed significant light on the normal stratum corneum functions of barrier formation and desquamation.
Systemic Lipid Storage Diseases
TLDR
In these diseases, there is no increase in serum lipids or lipoproteins as is characteristic of hyperlipoproteinemia, and the morphological anomaly is characterized by a generalized proliferation of histiocytoid cells in which lipids are deposited only as a secondary consequence of a genetically determined disorder of cell metabolism.
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