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Problems in prenatal diagnosis of the ichthyosis congenita group

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Summary

The late onset of normal keratinization after week 24 menstrual age (MA) of fetal life is the cause of considerable problems with the prenatal diagnosis of congenital ichthyosis. This paper summarizes the experiences with prenatal diagnosis in nine pregnancies at risk of congenital ichthyosis and one at risk of chondrodysplasia punctata, rhizomelic type. An important prerequisite—and the main problem—is the manifestation of the mutant genes early enough in fetal life to allow a safe exclusion. Continuous precocious keratinization of the interfollicular epidermis, hyperkeratosis, and/or specific markers of congenital ichthyosis such as various types of lipid inclusions had been expected. With a normal ultrastructure and development of fetal epidermis no evidence of ichthyosis was present in eight cases; all eight children were born healthy. Regional variations of the onset of keratinization of the interfollicular epidermis, observed in one of these eight fetuses as well as in one fetus at risk (but normal for) recessive dystrophic epidermolysis bullosa, posed considerable problems and might lead to a false-positive diagnosis. Examination after birth allowed one to localize these regions to areas close to the mamillae. Regional variations in addition to the well-known cranio-caudal gradient thus are normal findings: both children have normal skin. One fetus at risk of nonbullous congenital ichthyosiform erythroderma (type II) was involved without prenatal manifestation of interfollicular keratinization, specific markers, or increased numbers of cornified cells in the pilosebaceous follicles at 20 weeks MA. A slightly more irregular pattern of the horn cell contents was not regarded as sufficient evidence alone to indicate congenital ichthyosis. A severely affected boy was born in week 34 MA. Similarly the fetus at risk of chondrodysplasia punctata showed no skin abnormalities, neither at fetoscopy (week 22 MA) nor after abortion (week 24 MA) although based on other clinical features it was clearly affected. Thus, this genodermatosis cannot be diagnosed prenatally by its keratinization disturbances. In future cases, precocious keratinization and hyperkeratosis cannot be expected to be expressed before week 24 MA, and minor signs, such as irregularities of horn cell contents, have to be taken as an indication of involvement. Multiple biopsies are required, and a safe exclusion may be impossible before week 22 MA.

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References

  1. Anton-Lamprecht I (1972) Zur Ultrastruktur hereditärer Verhornungsstörungen. I. Ichthyosis congenita. Arch Dermatol Forsch 243:88–100

  2. Anton-Lamprecht I (1981) Prenatal diagnosis of genetic disorders of the skin by means of electron microscopy. Hum Genet 59:392–405

  3. Anton-Lamprecht I (1983) Genetically induced abnormalities of epidermal differentiation and ultrastructure in ichthyoses and epidermolyses: pathogenesis, heterogeneity, fetal manifestation, and prenatal diagnosis. J Invest Dermatol 81:149s-156s

  4. Anton-Lamprecht I, Arnold M-L, Holbrook KA (1984) Methodology in sampling of fetal skin and pitfalls in the interpretation of fetal skin biopsy specimens. Semin Dermatol 3:203–215

  5. Arnold M-L, Anton-Lamprecht I (1985) Ichtyosis congenita — a heterogeneous group of inborn errors of keratinization. J Cutan Pathol (in press)

  6. Arnold M-L, Kern B, Hartschuh W, Anton-Lamprecht I (1983) An uncommon reticulate ichtyosis. J Cutan Pathol 10:282

  7. Arnold M-L, Rauskolb R, Anton-Lamprecht I, Schinzel A, Schmid W (1984) Prenatal diagnosis of anhidrotic ectodermal dysplasia. Prenat Diagn 4:85–98

  8. Blanchet-Bardon C, Dumez Y (1984) Prenatal diagnosis of a harlequin fetus. Semin Dermatol 3:225–228

  9. Blanchet-Bardon C, Dumez Y, Labée F, Lutzner MA, Puissant A, Henrion R, Bernheim A (1983) Prenatal diagnosis of harlequin fetus. Lancet I:132

  10. Elias S, Mazur M, Sabbagha R, Esterly NB, Simpson JL (1980) Prenatal diagnosis of harlequin ichthyosis. Clin Genet 17:275–280

  11. Esterly NB, Elias S (1983) Antenatal diagnosis of genodermatoses. J Am Acad Dermatol 8:655–662

  12. Golbus MS, Sagebiel RW, Filly RA, Gindhart TD, Hall JG (1980) Prenatal diagnosis of congenital bullous ichthyosiform erythroderma (epidermolytic hyperketatosis) by fetal skin biopsy. N Engl J Med 302:93–95

  13. Hazell M, Marks R (1985) Clinical, histologic, and cell kinetic discriminants between lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma. Arch Dermatol 121:489–493

  14. Holbrook KA (1979) Human epidermal embryogenesis. Int J Dermatol 18:329–356

  15. Holbrook KA (1984) Progress in prental diagnosis of bullous congential ichthyosiform erythroderma (epidermolytic hyperkeratosis). Semin Dermatol 3:216–220

  16. Holbrook KA, Dale BA, Sybert VP, Sagebiel RW (1983) Epidermolytic hyperkeratosis: ultrastructure and biochemistry of skin and amniotic fluid cells from two affected fetuses and a newborn infant. J Invest Dermatol 80:222–227

  17. Kousseff BG, Matsuoka LY, Stenn KS, Hobbins JC, Mahoney MJ, Hashimoto K (1982) Prenatal diagnosis of Sjögren-Larsson syndrome. J Pediatr 101:998–1001

  18. Rauskolb R (1980) Fetoskopie. Eine klinische Methode zur pränatalen Diagnostik. Thieme, Stuttgart

  19. Trepeta R, Stenn KS, Mahoney MJ (1984) Prenatal diagnosis of Sjögren-Larsson syndrome. Semin Dermatol 3:221–224

  20. Williams ML (1983) The ichthyoses — pathogenesis and prenatal diagnosis: a review of recent advances. Pediatr Dermatol 1:1–24

  21. Williams ML, Elias PM (1984) Elevated n-alkanes in congenital ichthyosiform erythroderma. Phenotypic differentiation of two types of autosomal recessive ichthyosis. J Clin Invest 74:296–300

  22. Williams ML, Elias PM (1985) Heterogeneity in autosomal recessive ichthyosis. Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma. Arch Dermatol 121:477–488

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Correspondence to M. -L. Arnold.

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Arnold, M.-., Anton-Lamprecht, I. Problems in prenatal diagnosis of the ichthyosis congenita group. Hum Genet 71, 301–311 (1985). https://doi.org/10.1007/BF00388455

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Keywords

  • Prenatal Diagnosis
  • Fetal Life
  • Epidermolysis Bullosa
  • Considerable Problem
  • Lipid Inclusion