Abstract
Severe congenital ichthyosis of the neonate include several major subtypes, i.e. harlequin
ichthyosis, lamellar ichthyosis (LI), and congenital ichthyosiform erythroderma. Knowledge
of the pathogenetic mechanisms is significant for the precise diagnosis, treatment,
genetic counseling and prenatal diagnosis. This article reviews recent advances in
studies on genetic defects and pathogenetic mechanisms of these severe congenital
ichthyosis and, in addition, discuss the feasibility and methods of their prenatal
diagnosis. Recently, reduced activity of the serine/threonine protein phophatase in
keratinocytes was suggested to be the cause of harlequin ichthyosis. In some families
of LI, transglutaminase 1 gene mutations were identified as causative genetic defects
and transglutaminase 1 is thought to be one of the candidate molecules for non-bullous
congenital ichthyosiform erythroderma (NBCIE). Genotype/phenotype correlation in bullous
congenital ichthyosis is now being clarified. Mutations within the rod domain, not
in the beginning or the end of the rod domain, of keratin 10 were reported in annular
epidermolytic ichthyosis (AEI), the distinct subtype of bullous congenital ichthyosiform
erythroderma.
Keywords
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References
- Generalized disorders of cornification: The ichthyoses.in: Sams W.M.Jr Lynch P.J. Principles and Practice of Dermatology, 2nd ed. Churchill Livingstone, New York, NY1996: 379-396
- The ichthyoses.in: Harper J. Inherited Skin Disorders, the Genodermatoses. Butterworth-Heinemann, Oxford1996: 69-96
- Severe congenital ichthyosis of the neonate.Int. J. Dermatol. 1998; 37: 722-728
- The expression of congenital ichthyosiform erythroderma in second trimester fetuses of the same family: morphologic and biochemical studies.J. Invest. Dermatol. 1988; 91: 521-531
- Genetic skin disorders of keratin.J. Invest. Dermatol. 1992; 99: 671-674
- Structure, function, and dynamics of keratin intermediate filaments.J. Invest. Dermatol. 1993; 100: 729-734
- Human keratin diseases: hereditary fragility of specific epithelial tissues.Exp. Dermatol. 1996; 5: 297-307
- Epidermal structural proteins in skin disorders.J. Dermatol. Sci. 1997; 15: 143-165
- Structural organization of cornified cell envelopes and alterations in inherited skin disorders.Exp. Dermatol. 1998; 7: 1-10
- Prenatal diagnosis of genetic skin disease using fetal skin biopsy samples.Arch. Dermatol. 1993; 129: 1437-1454
- DNA-based prenatal diagnosis of heritable skin diseases.Arch. Dermatol. 1993; 129: 1455-1459
- Genetically transmitted, generalized disorders of cornification; the ichthyoses.Dermatol. Clin. 1987; 5: 155-178
- Prenatal diagnosis of harlequin ichthyosis by fetal skin biopsy; report of two cases.Prenat. Diagn. 1991; 11: 451-457
- Harlequin ichthyosis: variability in expression and hypothesis for disease mechanism.Arch. Dermatol. 1993; 129: 1471-1477
- Characteristic morphologic abnormality of harlequin ichthyosis detected in amniotic fluid cells.J. Invest. Dermatol. 1994; 102: 210-213
- Analysis of skin-derived amniotic fluid cells in the second trimester; detection of severe genodermatoses expressed in the fetal period.J. Invest. Dermatol. 1994; 103: 674-677
- Harlequin fetus successfully treated with etretinate.Br. J. Dermatol. 1985; 112: 585-590
- Progress of a harlequin fetus to nonbullous ichthyosiform erythroderma.Pediatrics. 1988; 82: 870-873
- Harlequin baby treated with etretinate.Pediatr. Dermatol. 1989; 6: 216-221
- Long-term survival of a harlequin fetus.J. Am. Acad. Dermatol. 1989; 21: 335-339
- Successful treatment of a harlequin fetus.Arch. Dis. Child. 1989; 64: 1309-1311
- Management and follow-up of harlequin siblings.Br. J. Dermatol. 1994; 130: 650-653
- A longitudinal study of a harlequin infant presenting clinically as non-bullous congenital ichthyosiform erythroderma.Br. J. Dermatol. 1996; 135: 448-453
- Heterogeneity in harlequin ichthyosis, an inborn error of epidermal keratinization: variable morphology and structural protein expression and a defect in lamellar granules.J. Invest. Dermatol. 1990; 94: 6-18
- Abnormal lamellar granules in harlequin ichthyosis.J. Invest. Dermatol. 1992; 99: 824-829
- Harlequin fetus with abnormal lamellar granules and giant mitochondria.J. Cutan. Pathol. 1992; 19: 247-252
- Electron microscopic studies of harlequin fetuses.Pediatr. Dermatol. 1993; 10: 214-223
- Cornified cell envelope proteins and keratins are normally distributed in harlequin ichthyosis.J. Cutan. Pathol. 1996; 23: 571-575
- Regional difference in expression of characteristic abnormality of harlequin ichthyosis in affected fetuses.Prenat. Diagn. 1998; 18: 425-436
- Recessive ichthyosis congenita type II.Arch. Dermatol. Res. 1991; 283: 211-218
- Membrane structural abnormalities in the stratum corneum of the autosomal recessive ichthyoses.J. Invest. Dermatol. 1992; 99: 755-763
- Analysis of the cornified cell envelope in lamellar ichthyosis.Arch. Dermatol. 1993; 129: 618-624
- Expression of transglutaminase 1 (transglutaminase K) in harlequin ichthyosis.Arch. Dermatol. Res. 1997; 289: 116-119
- Filaggrin, a keratin filament associated protein.Ann. NY. Acad. Sci. 1985; 455: 330-342
- Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.Am. J. Pathol. 1997; 151: 293-310
- Prenatal diagnosis of harlequin ichthyosis by the examination of keratinized hair canals and amniotic fluid cells at 19 weeks’ estimated gestational age.Prenat. Diagn. 1999; 16: 167-171
- Protein phosphatase activity in human keratinocytes cultured from normal epidermis and epidermis from patients with harlequin ichthyosis.Br. J. Dermatol. 1997; 137: 874-882
- Harlequin ichthyosis keratinocytes in lifted culture differentiate poorly by morphologic and biochemcial criteria.J. Invest. Dermatol. 1997; 109: 36-38
Blanchet-Bardon C, Dumez Y, Labbé F, Lutzner MA, Puissant A, Henrion R, Bernheim A. Prenatal diagnosis of harlequin fetus. Lancet, 1983;I:132.
- Harlequin fetus diagnosed by fetal skin biopsy.in: Wilkinson D.S. Mascaro J.M. Orfanos C.E. Clinical Dermatology, The CMD Cases Collection. Schattauer, New York, NY1987: 5-6
- Heterogeneity in autosomal recessive ichthyosis.Arch. Dermatol. 1985; 121: 477-488
- Le bébé collodion: Evolution à propos de 29 cas.Ann. Dermatol. Syphiligr. 1976; 103: 31-56
- Cornified cell envelope.Dermatologica. 1990; 180: 201-211
- Structure and organization of the human transglutaminase 1 gene.J. Biol. Chem. 1992; 267: 7710-7717
- Structure of the gene for human transglutaminase 1.J. Biol. Chem. 1992; 267: 17858-17863
- Transglutaminases: multifunctional cross-linking enzyme that stabilizes tissues.FASEB J. 1991; 5: 3071-3077
- Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q.Am. J. Hum. Genet. 1994; 55: 1146-1152
- Mutations of keratinocyte transglutaminase in lamellar ichthyosis.Science. 1995; 267: 525-528
- Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis.Nature Genet. 1995; 9: 279-283
- Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity.Hum. Mol. Genet. 1995; 4: 1391-1395
- Consequences of seven novel mutations on the expression and structure of keratinocyte transglutaminase.J. Biol. Chem. 1997; 272: 21028-21036
- Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population.Am. J. Hum. Genet. 1997; 61: 529-538
- Three novel point mutations in the keratinocyte transglutaminase (TGK) gene in lamellar ichthyosis: significance for mutant transcript level, TGK immunodetection and activity.Eur. J. Hum. Genet. 1997; 5: 218-228
- Transglutaminase 1 mutations in lamellar ichthyosis. Loss of activity due to failure of activation by proteolytic processing.J. Biol. Chem. 1998; 273: 13693-13702
- Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with lamellar ichthyosis.Hum. Genet. 1998; 102: 314-318
- In vitro and rapid in situ transglutaminase assays for congenital ichthyoses-a comparative study.J. Invest. Dermatol. 1998; 110: 268-271
- Inability of keratinocytes lacking their specific transglutaminase to form cross-linked envelopes: absence of envelopes as a simple diagnostic test for lamellar ichthyosis.Proc. Natl. Acad. Sci. USA. 1998; 95: 687-690
- A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel’s syndrome.Nat. Genet. 1996; 13: 70-77
- Loricrin mutation in Vohwinkel’s keratoderma is unique to the variant with ichthyosis.J. Invest. Dermatol. 1997; 109: 604-610
- The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope.Am. J. Hum. Genet. 1997; 61: 581-589
- Abnormal cornified cell envelope formation in mutilating palmoplantar keratoderma unrelated to epidermal differentiation complex.J. Invest. Dermatol. 1998; 111: 133-138
- Lamellar ichthyosis is genetically heterogeneous-cases with normal keratinocyte transglutaminase.J. Invest. Dermatol. 1995; 105: 653-654
- Mapping of a second locus for lamellar ichthyosis to chromosome 2q33-35.Hum. Mol. Genet. 1996; 5: 555-559
- Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis.Am. J. Hum. Genet. 1998; 62: 1052-1061
Akiyama M, Smith LT, Yoneda K, Holbrook KA, Hohl D, Shimizu H. Periderm cells form cornified cell envelope in their regression process during human epidermal development. J Invest Dermatol (in press).
- Prenatal diagnosis of lamellar ichthyosis by direct mutational analysis of the keratinocyte transglutaminase gene.Prenat. Diagn. 1997; 17: 483-486
- Prenatal exclusion of lamellar ichthyosis based on identification of two new mutations in the transglutaminase 1 gene.J. Invest. Dermatol. 1998; 110: 179-182
- Congenital recessive ichthyosis unlinked to loci for epidermal transglutaminase.J. Invest. Dermatol. 1996; 107: 808-811
- Collodion baby: ultrastructure and distribution of cornified cell envelope proteins and keratins.Dermatology. 1997; 195: 164-168
- Abnormal transglutaminase 1 expression pattern in a subset of patients with erythrodermic autosomal recessive ichthyosis.J. Invest. Dermatol. 1998; 110: 8-12
- Epidermolytic hyperkeratosis: ultrastructure and biochemistry of skin and amniotic fluid cells from two affected fetuses and a newborn infant.J. Invest. Dermatol. 1983; 80: 222-227
- Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma).J. Invest. Dermatol. 1992; 99: 19-26
- The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes.Cell. 1992; 70: 811-819
- A leucine-proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis.Cell. 1992; 70: 621-628
- Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.Science. 1992; 257: 1128-1130
- Mutations in the genes for epidermal keratins in epidermolysis bullosa and epidermolytic hyperkeratosis.Arch. Dermatol. 1993; 129: 1571-1577
- Clinical heterogeneity in epidermolytic hyperkeratosis.Arch. Dermatol. 1994; 130: 1026-1035
- Epidermolytic hyperkeratosis: applied molecular genetics.J. Invest. Dermatol. 1994; 102: 390-394
- Annular epidermolytic ichthyosis: a unique phenotype.J. Am. Acad. Dermatol. 1992; 27: 348-355
- A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.J. Invest. Dermatol. 1997; 108: 357-361
- An alanine to proline mutation in the 1A rod domain of the keratain 10 chain in epidermolytic hyperkeratosis.J. Invest. Dermatol. 1997; 109: 692-694
- Do the ends justify the mean? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations.J. Cell Biol. 1992; 116: 1181-1195
- The role of keratin mutations in disorders of the skin.Curr. Opin. Dermatol. 1996; 3: 127-136
- Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis: Correlation between location and disease severity.J. Clin. Invest. 1994; 93: 1533-1542
- Prenatal diagnosis of congenital bullous ichthyosiform erythroderma (epidermolytic hyperkeratosis) by fetal skin biopsy.N. Eng. J. Med. 1980; 302: 93-95
- Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing.J. Invest. Dermatol. 1994; 102: 13-16
Article info
Publication history
Accepted:
January 20,
1999
Received:
January 20,
1999
Identification
Copyright
© 1999 Elsevier Science Ireland Ltd. Published by Elsevier Inc. All rights reserved.
