Histological and ultrastructural study of a family with erythrokeratodermia progressiva symmetrica.
We have examined a family with 4 members in three succeeding generations suffering from a severe keratinization disorder. The clinical phenotype, with symmetric plaques on the extremities, corresponded to erythrokeratodermia progressiva symmetrica. It was manifested at birth, however, and in addition to the hyperkeratotic plaques, follicular hyperkeratosis was also observed. Electron microscopy revealed multiple morphological changes such as myelinated membrane structures, or needles, which were similar to those occurring in ichthyotic disorders and tyrosinemia, as well as in harlequin fetuses, all of which were excluded clinically or biochemically in our patients.
Niemi
K M
KM
Department of Dermatology, Helsinki University Central Hospital, Finland.
Kanerva
L
L
D000328:Adult; D005192:Family Health; D005260:Female; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000473:pathology*; D007231:Infant, Newborn; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D010641:Phenotype; D012867:Skin / Q000473:pathology / Q000648:ultrastructure