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Ichthyosis congenita type III

Clinical and ultrastructural characteristics and distinction within the heterogeneous ichthyosis congenita group

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We describe one type of the heterogeneous ichthyosis congenita group, inherited autosomal-recessively, noting its clinical and ultrastructural features based on the findings in a female patient, aged 30 at the time of first clinical and ultrastructural investigation, and supplemented with those of eight further patients, aged 2 to 22 years. Clinically this keratinization disorder was characterized by a generalized congenital ichthyosis with a reticulate skin pattern pronounced in a variable degree of severity, also involving the large flexures and the face, palms, and soles. Typical ultrastructural criteria were membrane structures, abnormal vesicular keratinosomes, vesicular complexes, and membrane-bound vacuoles within the cytoplasm of the granular cells, partly retained in the horny layer. A successful therapy with retinoids resulted in a complete removal of the hyperkeratoses but left the striking skin pattern unchanged. The morphological peculiarities remained unaltered as well. They are independent of the localization of the biopsies, of age and sex of the patients, and of oral and local treatment. Based on the clinical and ultrastructural features, this scaling disorder can be delineated against all other inherited ichthyoses and was termed ichthyosis congenita type III. A new nomenclature contributing to a distinct classification within the heterogeneous ichthyosis congenita group is discussed.

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  1. 1.

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

  2. 2.

    Anton-Lamprecht I (1983) Keratinisierung und Lipide. Zentralbl Haut Geschlechtskrankh 148:911–920

  3. 3.

    Arnold M-L, Anton-Lamprecht I (1985) Ichthyosis congenita—a heterogeneous group of inborn errors of keratinization. (Abstract) Annual Meeting of the Society for Cutaneous Ultrastructure Research, Florence

  4. 4.

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

  5. 5.

    Bernhardt M, Baden HP (1986) Report of a family with an unusual expression of recessive ichthyosis. Arch Dermatol 122:428–433

  6. 6.

    Elias PM (1983) Epidermal lipids, barrier function, and desquamation. J Invest Dermatol 88:44s-49s

  7. 7.

    Elias PM, Williams ML (1985) Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion. Arch Dermatol 121:1000–1008

  8. 8.

    Elias PM, Goerke J, Friend DS, Brown BE (1978) Freezefracture identification of sterol-digitonin complexes in cell and liposome membranes. J Cell Biol 78:577–596

  9. 9.

    Frost Ph, Weinstein GD (1971) Ichthyosiform dermatoses. In: Fitzpatrick TB, Arndt KA, Clark WC Jr, Eisen AZ, van Scott EJ, Vaughan JH (eds) Dermatology in general medicine. McGraw-Hill, New York, pp 249–265

  10. 10.

    Gianotti F (1978) Inherited ichthyosiform dermatoses in infants and children. In: Marks R, Dykes PJ (eds) The ichthyoses. MTP Press, Lancaster, England, pp 137–148

  11. 11.

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

  12. 12.

    Kanerva L, Niemi K-M, Lauharanta J, Lassus A (1983) New observations on the fine structure of lamellar ichthyosis and the effect of treatment with etretinate. Am J Dermatopathol 5:555–568

  13. 13.

    Kolde G, Happle R, Traupe H (1985) Autosomal-dominant lamellar ichthyosis: ultrastructural characteristics of a new type of congenital ichthyosis. Arch Dermatol Res 278:1–5

  14. 14.

    Marghescu S, Anton-Lamprecht I, Rudolph P-O, Kaste R (1984) Kongenitale retikuläre ichthyosiforme Erythrodermie. Hautarzt 35:522–529

  15. 15.

    Peracchia C, Mittler BS (1972) Fixation by means of glutaraldehyde-hydrogen peroxide reaction products. J Cell Biol 53:234–238

  16. 16.

    Swanbeck G (1981) The ichthyoses. Acta Derm Venereol [Suppl] (Stockh) 95:88–90

  17. 17.

    Traupe H, Kolde G, Happle R (1984) Autosomal-dominant lamellar ichthyosis: a new skin disorder. Clin Genet 26:457–461

  18. 18.

    Vandersteen PR, Muller SA (1972) Lamellar ichthyosis. An enzyme histochemical, light, and electron microscopic study. Arch Dermatol 106:694–701

  19. 19.

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

  20. 20.

    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

  21. 21.

    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

  22. 22.

    Williams ML, Elias PM (1986) Ichthyosis. Genetic heterogeneity, genodermatoses, and genetic counseling. Arch Dermatol 122:529–531

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Correspondence to M. -L. Arnold.

Additional information

Dedicated to Professor Urs W. Schnyder, Zürich, on the occasion of his 65th birthday

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Arnold, M.-., Anton-Lamprecht, I., Melz-Rothfuss, B. et al. Ichthyosis congenita type III. Arch Dermatol Res 280, 268–278 (1988). https://doi.org/10.1007/BF00440599

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Key words

  • Ichthyosis congenita
  • Lamellar ichthyosis
  • Keratinosome abnormalities