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. 
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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
Examination revealed moderately severe truncal and four limb cerebellar ataxia rendering her unable to walk, a peripheral sensory and motor neuropathy, sensory nerve deafness and fundal changes compatible with retinitis pigmentosa.
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.
Inherited disorders of keratinization
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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References

SHOWING 1-10 OF 16 REFERENCES
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.
The significance of surface changes in parakeratotic horn.
TLDR
The villous pattern appeared in scale taken from areas that had developed a high mitotic index and appeared to be related to the proliferative state of the epidermis as well as to the appearance of parakeratosis.
Morphological and Quantitative Assessment of Physical Changes in the Horny Layer in Ichthyosis
TLDR
There was greater intracorneal cohesion in patients with severe ichthyosis than in normals and skin surface biopsies taken from these patients revealed abnormal tracings when examined and measured in a surfometer which suggested a greater than usual intracornal cohesion.
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TLDR
Persistent subcutaneous nodules on the head and neck with distinctive histological features of angiolymphoid hyperplasia with eosinophilia are reported in nine patients, all young adults, and the condition appears to be benign.
The fatty acid composition of skin and plasma lipids in Refsum's disease.
SKIN SURFACE BIOPSY: AN IMPROVED TECHNIQUE FOR THE EXAMINATION OF THE HORNY LAYER
  • R. Marks, R. P. R. DAWBER
  • Medicine
    The British journal of dermatology
  • 1971
TLDR
The scanning electron microscope has been used to examine the horny squames removed with thivS technique from normal, ichthyotic and psoriatic skins and a particularly well developed series of folds and outpouchings of the plasma membrane were noted.
Histochemistry, Theoretical and Applied
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  • Medicine
    The Yale Journal of Biology and Medicine
  • 1960
municable disease control to the newer responsibilities of the hazards of ionizing radiation and medical defense against atomic attack. The individual topics are adequately developed with emphasis,…
Surfometry. A method of evaluating the internal structure of the stratum corneum.
TLDR
Using this technique the tracings that resulted from examination of normal skin, psoriasis and certain ichthyotic states could easily be distinguished and it was demonstrated that there was a consistent pattern of change with increasing hydration of the stratum corneum.
[ON THE PRESENCE OF 3,7,11,15-TETRAMETHYLHEXADECANOIC ACID (PHYTANIC ACID) IN THE CHOLESTEROL ESTERS AND OTHER LIPOID FRACTIONS OF THE ORGANS IN A CASE OF A DISEASE OF UNKNOWN ORIGIN (POSSIBLY HEREDOPATHIA ATACTICA POLYNEURITIFORMIS, REFSUM'S SYNDROME)].
The fatty acid composition of skin and plasma lipids in Refsum's syndrome
  • 1977
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