Original Paper

Regional difference in expression of characteristic abnormality of harlequin ichthyosis in affected fetuses

  1. Masashi Akiyama1,2,*,
  2. Beverly A. Dale3,
  3. Lynne T. Smith1,
  4. Hiroshi Shimizu4,
  5. Karen A. Holbrook5

Article first published online: 4 DEC 1998

DOI: 10.1002/(SICI)1097-0223(199805)18:5<425::AID-PD284>3.0.CO;2-B

Issue

Prenatal Diagnosis

Prenatal Diagnosis

Volume 18, Issue 5, pages 425–436, May 1998

Additional Information

How to Cite

Akiyama, M., Dale, B. A., Smith, L. T., Shimizu, H. and Holbrook, K. A. (1998), Regional difference in expression of characteristic abnormality of harlequin ichthyosis in affected fetuses. Prenat. Diagn., 18: 425–436. doi: 10.1002/(SICI)1097-0223(199805)18:5<425::AID-PD284>3.0.CO;2-B

Author Information

  1. 1

    Department of Biological Structure, Medicine/Dermatology, University of Washington School of Medicine, Seattle, Washington, U.S.A.

  2. 2

    Division of Dermatology, Kitasato Institute Hospital, Tokyo, Japan

  3. 3

    Department of Oral Biology and Periodontics, University of Washington School of Medicine, Seattle, Washington, U.S.A.

  4. 4

    Department of Dermatology, Keio University School of Medicine, Tokyo, Japan

  5. 5

    Departments of Anatomy and Cell Biology and Medicine (Dermatology), University of Florida, Gainesville, Florida, U.S.A.

*Division of Dermatology, Kitasato Institute Hospital, 5-9-1 Shirokane, Minato-ku, Tokyo 108, Japan

Publication History

  1. Issue published online: 4 DEC 1998
  2. Article first published online: 4 DEC 1998
  3. Manuscript Accepted: 8 AUG 1997
  4. Manuscript Received: 20 JUN 1997

Funded by

  • Institute of Child Health and Human Development/National Institutes of Health, Bethesda, MD, U.S.A. Grant Number: HD17664
  • NIAMS/National Institutes of Health. Grant Number: AR21557

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Keywords:

  • fetal skin biopsy;
  • prenatal diagnosis;
  • lamellar granule;
  • filaggrin

Abstract

Harlequin ichthyosis (HI) is a severe congenital ichthyosis in which newborn infants are covered with a thick plate of stratum corneum. We examined skin specimens from a variety of regions of the body including the scalp, face, tongue, trunk, upper and lower extremities, digits, palms, and soles of three fetuses affected with HI that were diagnosed prenatally. In all the skin regions, characteristic morphological abnormalities (absent or abnormal lamellar granules and intercellular lamellae, lipid inclusions in the cornified cells) were expressed in the late second trimester of the fetal period. The cornified cells in hair canals showed morphological abnormalities of HI more strongly than the interfollicular epidermis. Immunoblot study of epidermal extracts revealed that profilaggrin was much more prominent than filaggrin in all the hairy skin regions where the hair canals were extensively keratinized, but filaggrin was prominent in the palm. These observations support the idea that, in the hairy skin, HI phenotype expression is associated with keratinization and abnormal filaggrin metabolism in hair. In addition, the prenatal diagnosis or prenatal exclusion of HI is thought to be possible from whichever site of the fetal body the skin biopsy is taken in the late second trimester of the fetal period. © 1998 John Wiley & Sons, Ltd.

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