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Prenatal diagnosis of congenital non-bullous ichthyosiform erythroderma (lamellar ichthyosis) |
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| Authors: | Tracy B Perry Karen A Holbrook Mary S Hoff Emily F Hamilton Vyta Senikas Chris Fisher |
| Institution: | Department of Obstetrics and Gynecology, McGill University and The Royal Victoria Hospital and The McGill Prenatal Diagnosis Programme, The Montreal Children's Hospital. Montreal, Quebec, Canada
Departments of Biological Structure and Medicine (Dermatology), University of Washington School of Medicine, Seattle, Washington. U.S.A. |
| Abstract: | We report the first positive prenatal diagnosis ofcongenital non-bullous ichthyosiform erythroderma or lamellar ichthyosis. Fetal skin samples were obtained by fetoscopy at 21 weeks' gestation and examined by light and electron microscopy. Light microscopy revealed a thickened interfollicular epidermis with multiple layers of flattened cells and excessive keratinization of the epidermal lining of the follicular infundibulum. Electron microscopy of the thickened epidermis revealed granular cells that contained larger-than-normal keratohyalin granules and multiple layers of parakeratotic cornified cells. Although there was regional variation in the degree of interfollicular keratinization, follicles from all regions showed greater and more complete keratinization, indicating that they express the abnormality early enough in development to permit prenatal diagnosis at about 20 weeks' gestation. |
| Keywords: | Prenatal diagnosis Congenital non-bullows ichthyosiform erythroderma Lamellar ichthyosis Fetoscopy Fetal skin |