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Histological and ultrastructural study of a family with erythrokeratodermia progressiva symmetrica
Author(s) -
Niemi KirstiMaria,
Kanerva Lasse
Publication year - 1993
Publication title -
journal of cutaneous pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 75
eISSN - 1600-0560
pISSN - 0303-6987
DOI - 10.1111/j.1600-0560.1993.tb00650.x
Subject(s) - pathology , hyperkeratosis , dyskeratosis , ultrastructure , phenotype , medicine , dermatology , biology , genetics , gene
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 tyro sinemia, as well as in harlequin fetuses, all of which were excluded clinically or biochemically in our patients.