Document Detail


Regional difference in expression of characteristic abnormality of harlequin ichthyosis in affected fetuses.
MedLine Citation:
PMID:  9621376     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
M Akiyama; B A Dale; L T Smith; H Shimizu; K A Holbrook
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  18     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  1998 May 
Date Detail:
Created Date:  1998-08-28     Completed Date:  1998-08-28     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  425-36     Citation Subset:  IM    
Affiliation:
Department of Biological Structure, Medicine/Dermatology, University of Washington School of Medicine, Seattle, USA. akiyama@mc.med.keio.ac.jp
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MeSH Terms
Descriptor/Qualifier:
Biopsy*
Cytoplasmic Granules / chemistry
Epidermis / chemistry
Female
Gestational Age
Humans
Ichthyosis / pathology*
Immunoblotting
Immunohistochemistry
Infant, Newborn
Intermediate Filament Proteins / analysis
Keratins / analysis
Lipids / analysis
Microscopy, Electron
Pregnancy
Prenatal Diagnosis*
Protein Precursors / analysis
Skin / pathology*
Tissue Distribution
Grant Support
ID/Acronym/Agency:
AR21557/AR/NIAMS NIH HHS; HD17664/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
0/Intermediate Filament Proteins; 0/Lipids; 0/Protein Precursors; 0/filaggrin; 68238-35-7/Keratins

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