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Erythrokeratodermia Variabilis :An Ultrastructural Study.

N C Sethi, E J Moynahan

Indian Journal of Dermatology, Venereology and Leprology

|February 15, 2017

Summary

This summary is machine-generated.

Erythrokeratodermia variabilis involves abnormal keratinization, not just retention hyperkeratosis. Ultrastructural studies reveal thickened basement membranes and altered keratin production in epidermal cells, suggesting a synthetic defect.

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Area of Science:

Dermatology
Cell Biology
Pathology

Background:

Erythrokeratodermia variabilis is a rare disorder with debated pathogenesis.
Previous theories suggested it as a 'retention' hyperkeratosis.

Purpose of the Study:

To investigate the morphological changes in epidermal cells in erythrokeratodermia variabilis.
To elucidate the pathogenesis of this rare disorder using ultrastructural analysis.

Main Methods:

Light and electron microscopy were performed on epidermal tissue from two affected sisters.
Histopathological and ultrastructural features of epidermal cells were analyzed.

Main Results:

Light microscopy showed non-specific histopathologic changes.
Ultrastructural findings included a thickened basement membrane and abundant tonofibrils in basal cells.
Keratohyaline granules were abnormally present in suprabasal and spinous cells, with decreased membrane-coated granules in upper spinous cells.

Conclusions:

The formation of keratohyaline granules in suprabasal and spinous cells suggests an accelerated keratinization process.
The findings indicate erythrokeratodermia variabilis is unlikely to be a retention hyperkeratosis, pointing towards a synthetic defect.