A particular subtype of ichthyosis congenita type III. Clinical, light, and electron microscopic features.
We report the case of a second patient with the extraordinary ultrastructural findings of vacuolated structures intermingled with membranes in the perinuclear part of the upper epidermal cells. Clinical, light microscopic, and electron microscopic features of this particular presentation of ichthyosis congenita type III have already been presented by K. M. Niemi and L. Kanerva in 1989. Although our patient has more or less the same light and electron microscopic findings, the clinical picture is more severe. The patient was born as a collodion baby. Later, he showed signs of generalized severe involvement with large scales, erythrodermia, and itching. Successful therapy with retinoids resulted in complete removal of the hyperkeratosis but left the striking reticulate skin pattern. Noting the heterogeneous clinical presentation, the specific electron microscopic findings are diagnostic. No biochemical data on this disease are known.
de Wolf
K
K
Department of Dermatology, St. Pierre-Brugmann University Hospitals, Brussels, Belgium.
Gourdain
J M
JM
Dobbeleer
G D
GD
Song
M
M
D000328:Adult; D002467:Cell Nucleus / Q000648:ultrastructure; D003594:Cytoplasmic Granules / Q000648:ultrastructure; D003873:Dermatitis, Exfoliative / Q000473:pathology; D003879:Dermatologic Agents / Q000627:therapeutic use; D004817:Epidermis / Q000473:pathology / Q000648:ultrastructure; D006801:Humans; D006818:Hyalin; D007057:Ichthyosis / Q000145:classification* / Q000188:drug therapy / Q000473:pathology*; D007633:Keratins; D007642:Keratosis / Q000188:drug therapy; D008297:Male; D008854:Microscopy, Electron; D008928:Mitochondria / Q000648:ultrastructure; D011537:Pruritus / Q000473:pathology; D012176:Retinoids / Q000627:therapeutic use; D012867:Skin / Q000187:drug effects; D014617:Vacuoles / Q000648:ultrastructure
D003879:Dermatologic Agents; D012176:Retinoids; C001500:keratohyalin; D007633:Keratins