Epidermal abnormalities in Refsum's disease.
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.
D000328:Adult; D001706:Biopsy; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000150:complications / Q000473:pathology; D008855:Microscopy, Electron, Scanning; D012035:Refsum Disease / Q000150:complications / Q000473:pathology*; D012867:Skin / Q000473:pathology* / Q000648:ultrastructure