Summary
The ichthyosiform skin and the uninvolved skin of a 5-year-old Japanese female with Sjögren — Larsson syndrome were examined by light and electron microscopy to elucidate the keratinization disorder. Light microscopically, the epidermis of the ichthyosiform skin showed acanthosis, papillomatosis and hyperkeratosis. The horny cells had a basket-weave appearance. The granular cell layer was slightly thickened. Slight round cell infiltration and vascular dilatation were seen in the upper dermis. The uninvolved skin was histologically normal. Electron microscopically, in both ichthyosiform and uninolved skin, abnormal lamellar or membranous inclusions were present in the cytoplasm of horny cells of the epidermis. These inclusions appeared to be derived from some of the lamellar bodies and/or abnormal membranous structures found in the cytoplasm of spinous and granular cells. Mitochondria in the epidermal basal cells were more numerous in the ichthyosiform skin than in the uninvolved skin. These findings indicate that, whether the skin is involved or not, the epidermis of the patient with this disorder may always have a structural abnormality, which may be genetically determined. Local environmental factors may play a role in inducing the acanthosis and papillomatosis of the epidermis.
Similar content being viewed by others
References
Anton-Lamprecht I (1972) Zur Ultrastruktur hereditÄrer Verhornungsstörungen. I. Ichthyosis congenita. Arch Dermatol Forsch 243:88–100
Anton-Lamprecht I, Schnyder UW (1974) Ultrastructure of inborn errors of keratinization. VI. Inherited ichthyoses, a model system for heterogeneities in keratinization disturbances. Arch Dermatol Forsch 250:207–227
Elias PM, Brown BE (1978) The mammalian cutaneous permeability barrier. Defective barrier function in essential fatty acid deficiency correlates with abnormal intercellular lipid deposition. Lab Invest 39:574–583
Freinkel RK, Traczyk TN (1985) Lipid composition and acid hydrolase content of lamellar granules of fetal rat epidermis. J Invest Dermatol 85:295–298
Goldsmith LA, Baden HP, Canty TG (1971) Sjögren — Larsson syndrome. Diversity of cutaneous manifestations. Acta Derm Venereol (Stockh) 51:374–378
Gomori JM, Leibovici V, Zlotogorski A, Wirguin I, Haham-Zadeh S (1987) Computed tomography in Sjögren — Larsson syndrome. Neuroradiology 29:557–559
Grayson S, Johnson-Winegar AG, Wintroub BU, Isseroff RR, Epstein EH Jr, Elias PM (1985) Lamellar body-enriched fractions from neonatal mice: preparative techniques and partial characterization. J Invest Dermatol 85:289–294
Guilleminault C, Harpey JP, Lafourcade J (1973) Sjögren — Larsson syndrome. Report of two cases in twins. Neurology 23:367–373
Hashimoto K (1971) The marginal band. A demonstration of the thickened cellular envelope of the human nail cell with the aid of lanthanum staining. Arch Dermatol 103:387–393
Hashimoto K (1971) Cementsome, a new interpretation of the membrane-coating granule. Arch Dermatol Forsch 240:349–364
Heijer A, Reed WB (1965) Sjögren — Larsson syndrome. Congenital ichthyosis, spastic paralysis, and oligophrenia. Arch Dermatol 92:545–552
Hernell O, Holmgren G, Jagell SF, Johnson SB, Holman RT (1982) Suspected faulty essential fatty acid metabolism in Sjögren — Larsson syndrome. Pediatr Res 16:45–49
Hofer P-å, Jagell S (1982) Sjögren — Larsson syndrome: a dermato-histopathological study. J Cutan Pathol 9:360–376
Hooft C, Kriekemans J, van Acker K, Devos E, Traen S, Verdonk G (1967) Sjögren — Larsson syndrome with exudative enteropathy. Influence of medium-chain triglycerides on the symptomatology. Helv Paediatr Acta 31:447–458
Ikarashi M, Morishita M, Ito M, Suzuki M, Sato Y (1985) Sjögren — Larsson syndrome. Rinsho Hifuka (Tokyo) 39:339–344
Kimura K (1978) Sjögren — Larsson syndrome. Rinsho Derma (Tokyo) 20:79–86
Landmann L (1988) The epidermal permeability barrier. Anat Embryol 178:1–13
Matsuoka LY, Koussef BG, Hashimoto K (1982) Studies of the skin in Sjögren — Larsson snydrome by electron microscopy. Am J Dermatopathol 4:295–301
Nilsson SEG, Jagell S (1987) Lipofuscin and melanin content of the retinal pigment epithelium in a case of Sjögren — Larsson syndrome. Br J Ophthalmol 71:224–226
Reynolds ES (1963) The use of lead citrate at high pH as an electron-opaque stain in electron microscopy. J Cell Biol 17:208–212
Rizzo WB, Dammann AL, Craft DA (1988) Sjögren — Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase activity. J Clin Invest 81:738–744
Sjögren T, Larsson T (1957) Oligophrenia in combination with congenital ichthyosis and spastic disorders. Acta Psychiatr Neurol Scand 32 [Suppl 113]:1–113
Sylvester PE (1969) Pathological findings in Sjögren — Larsson syndrome. J Ment Defic Res 13:267–275
Wolff-Schreiner EC (1977) Ultrastructural cytochemistry of the epidermis. Int J Dermatol 16:77–102
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Ito, M., Oguro, K. & Sato, Y. Ultrastructural study of the skin in Sjögren — Larsson syndrome. Arch Dermatol Res 283, 141–148 (1991). https://doi.org/10.1007/BF00372053
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00372053