Heterogeneity in Autosomal Recessive Ichthyosis: Clinical and Biochemical Differentiation of Lamellar Ichthyosis and Nonbullous Congenital Ichthyosiform Erythroderma

Archives of Dermatology

Volumn 121, Issue 4, 1985, Pages 477-488

  Williams, Mary L ^a   Elias, Peter M ^a  

^a SAN FRANCISCO VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACANTHOSIS; AUTOSOMAL RECESSIVE INHERITANCE; CONGENITAL DISORDER; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; DIAGNOSIS; ECTROPION; ERYTHRODERMA; HEREDITY; HISTOLOGY; HISTOPATHOLOGY; HUMAN; ICHTHYOSIS; LAMELLAR ICHTHYOSIS; MAJOR CLINICAL STUDY; PARAKERATOSIS; PERIPHERAL VASCULAR SYSTEM; PRIORITY JOURNAL; PROGNOSIS; SKIN CAPILLARY; VISUAL SYSTEM;

ADOLESCENT; ADULT; ALKANES; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FEMALE; GLYCOSAMINOGLYCANS; HISTOCYTOCHEMISTRY; HUMAN; ICHTHYOSIS; INFANT; LIPIDS; MALE; SKIN; SQUALENE; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, NON-P.H.S.; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0021922906     PISSN: 0003987X     EISSN: 15383652     Source Type: Journal    
DOI: 10.1001/archderm.1985.01660040061013     Document Type: Article

References (39)

1. Goldsmith LA: The ichthyoses. Prog Med Genet 1976;1:185–210.
2. Williams ML: The ichthyoses: Pathogenesis and prenatal diagnosis: A review of recent advances. Pediatr Dermatol 1983;1:1–24.
3. Frost P, Van Scott EJ: Ichthyosiform dermatoses: Classification based upon anatomic and biometric observations. Arch Dermatol 1966;94:113–126.
4. Shapiro LJ, Weiss R, Webster P, et al: X-linked ichthyosis due to steroid sulfatase deficiency. Lancet 1978;1:70–72.
5. Kubilus J, Tarascio AJ, Baden HP: Steroid sulfatase deficiency in sex-linked ichthyosis. Am J Human Genet 1979;31:50–53.
6. Epstein EH Jr, Leventhal ME: Steroid sulfatase of human leukocytes and epidermis and the diagnosis of X-linked ichthyosis. J Clin Invest 1981;67:1257–1262.
7. Williams ML, Elias PM: Stratum corneum lipids in disorders of cornification: I. Increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis. J Clin Invest 1981; 68:1404–1410.
8. Epstein EH Jr, Kraus RM, Schackleton CHL: X-linked ichthyosis: Increased blood cholesterol sulfate and electrophoretic mobility of low-density lipoprotein. Science 1981;214:659–660.
9. Esterly NB: The ichthyosiform dermatoses. Pediatrics 1968; 42:990–1004.
10. Gianotti F: Inherited ichthyosiform dermatoses in infants and children, in Marks R, Dykes PJ (eds): The Ichthyoses. Lancaster, England, SP Medical and Scientific Books, 1978, pp 137–148.
11. Swanbeck G: The ichthyoses. Acta Derm Venereol Suppl 1981;95:88–90.
12. Williams ML, Elias PM: Lamellar ichthyosis: Biochemical and clinical evidence of heterogeneity, abstracted. Clin Res 1983;31:151.
13. Williams ML, Elias PM: Elevated n-alkanes in congenital ichthyosiform erythroderma: Phenotypic differentiation of two types of autosomal recessive ichthyosis. J Clin Invest 1984;74:296–300.
14. Slavik J: Anilino-1-naphthalene sulfonate as a probe of membrane composition and function. Biochem Biophys Acta 1982; 694:1–25.
15. Bittman R, Chen WC, Blau L: Stopped flow kinetic and equilibrium studies of filipin III binding to sterols. Biochemistry 1974;13:1374–1379.
16. Nemanic MK, Whitehead JS, Elias PM: Alterations in membrane sugars during epidermal differentiation: Visualization with lectins and role of lectins. J Histochem Cytochem 1983;31:887–897.
17. Elias PM, Cooper ER, Korc A, et al: Percutaneous transport in relation to stratum corneum structure and lipid composition. J Invest Dermatol 1981;76:297–301.
18. Dodge JT, Mitchell C, Hanahan DJ: The preparation and chemical characteristics of hemoglobin-free ghosts of human erythrocytes. Arch Biochem Biophys 1963;100:119–130.
19. Elias PM, Brown BE, Fritsch PO, et al: Localization and composition of lipids in neonatal mouse stratum granulosum and stratum corneum. J Invest Dermatol 1979;73:339–348.
20. Lampe MA, Burlingame AL, Whitney J, et al: Human stratum corneum lipids: Characterization and regional variations. J Lipid Res 1983;24:120–130.
21. Williams ML, Elias PM: n-Alkanes in normal and pathological human scale. Biochem Biophys Res Commun 1982;107:322–328.
22. Mansbridge J, Knapp AH: Binding of Ulex europaeus lectin to normal and psoriatic epidermal cells. Br J Dermatol, in press.
23. Frost P: Ichthyosiform dermatoses. J Invest Dermatol 1973; 60:521–532.
24. Frost P, Weinstein D, Van Scott EJ: The ichthyosiform dermatosis: I. Autoradiographic studies on epidermal proliferation. J Invest Dermatol 1966;47:561–567.
25. Downing DT: Mammalian waxes, in Kolattukdy PE (ed): Chemistry and Biochemistry of Natural Waxes. New York, Elsevier Science Publishing Co Inc, 1976, pp 17–48.
26. Lampe MA, Williams ML, Elias PM: Human epidermal lipids: Characterization and modulations during differentiation. J Lipid Res 1983;24:131–140.
27. Lester DE: Normal paraffins in living matter: Occurrence, metabolism, and pathology. Prog Food Nutr Sci 1979;3:1–66.
28. Cassagne C, Darriet D: Evidence of alkane synthesis by the sciatic nerve of the rabbit. FEBS Lett 1979;82:51–54.
29. Jackson LL, Blomquist GJ: Insect waxes, in Kolattukudy PE (ed): Chemistry and Biochemistry of Natural Waxes. New York, Elsevier Science Publishing Co Inc, 1976, pp 201–233.
30. Hadley NF: Surface waxes and integumentary permeability. Am Sci 1980;68:546–553.
31. Yardley HJ, Summerly R: Lipid composition and metabolism in normal and diseased epidermis. Pharmacol Ther 1981; 13:357–383.
32. Elias PM: Epidermal lipids, barrier function, and desquamation. J Invest Dermatol 1983;80:44–49.
33. Grice KA, Bettley FR: Skin water loss and accidental hypoderma in psoriasis, ichthyosis, and erythroderma. Br Med J 1967;4:95–98.
34. McIntosh TJ, Simon SA, MacDonald RC: The organization of n-alkanes in lipid bilayers. Biochem Biophys Acta 1980;597:445–463.
35. McIntosh TJ, Costello MJ: Effects of n-alkanes on the morphology of lipid bilayers: A freeze-fracture and negative stain analysis. Biochim Biophys Acta 1981;645:318–326.
36. Snyder RG, Maroncelli M, Qi SP, et al: Phase transitions and nonplanar conformers in cystalline n-alkanes. Science 1981;214:188–190.
37. Peters RF, White AM: The relationship between cyclic adenosine 3′,5′-monophosphateand biochemical events in rat skin after induction of epidermal hyperplasia using hexadecane. Br J Dermatol 1980;98:301–314.
38. Harris RR, MacKenzie IC, Williams RAP: An examination of the relationship between experimentally altered rates of epidermal proliferation and rates of epidermal metabolism assayed in vitro. J Invest Dermatol 1980;74:402–406.
39. Elias PM, Maloney MA, Chung JC, et al: Drug-induced models of ichthyosis, in Lowe N, Maibach H (eds): Dermatopharmacology and Dermatotoxicology. New York, Springer-Verlag Inc, in press.