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Volumn 37, Issue 10, 1998, Pages 722-728

Severe congenital ichthyosis of the neonate

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL FEATURE; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; GENETIC COUNSELING; HUMAN; HYPERKERATOSIS; LAMELLAR ICHTHYOSIS; LIPIDOSIS; NUTRITION; ONSET AGE; PROGNOSIS; REVIEW; SJOEGREN LARSSON SYNDROME;

EID: 0031695220     PISSN: 00119059     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-4362.1998.00488.x     Document Type: Review
Times cited : (25)

References (67)
  • 1
    • 0037650937 scopus 로고    scopus 로고
    • Generalized disorders of cornification: The ichthyoses
    • Sams WM, Lynch PJ, eds. New York, NY: Churchill Livingstone
    • Williams MLK, Lynch PJ. Generalized disorders of cornification: the ichthyoses. In: Sams WM, Lynch PJ, eds. Principles and Practice of Dermatology. New York, NY: Churchill Livingstone, 1996: 379-396.
    • (1996) Principles and Practice of Dermatology , pp. 379-396
    • Williams, M.L.K.1    Lynch, P.J.2
  • 3
    • 0025822408 scopus 로고
    • Prenatal diagnosis of harlequin ichthyosis by fetal skin biopsy; report of two cases
    • Suzumori K, Kanzaki T. Prenatal diagnosis of harlequin ichthyosis by fetal skin biopsy; report of two cases. Prenat Diagn 1991; 11: 451-457.
    • (1991) Prenat Diagn , vol.11 , pp. 451-457
    • Suzumori, K.1    Kanzaki, T.2
  • 4
    • 0027377763 scopus 로고
    • Harlequin ichthyosis. Variability in expression and hypothesis for disease mechanism
    • Dale BA, Kam E. Harlequin ichthyosis. Variability in expression and hypothesis for disease mechanism. Arch Dermatol 1993; 129: 1471-1477.
    • (1993) Arch Dermatol , vol.129 , pp. 1471-1477
    • Dale, B.A.1    Kam, E.2
  • 5
    • 0023124882 scopus 로고
    • Genetically transmitted, generalized disorders of cornification; the ichthyoses
    • Williams ML, Elias PM. Genetically transmitted, generalized disorders of cornification; the ichthyoses. Dermatol Clin 1987; 5: 155-178.
    • (1987) Dermatol Clin , vol.5 , pp. 155-178
    • Williams, M.L.1    Elias, P.M.2
  • 6
    • 0027946841 scopus 로고
    • Analysis of skin-derived amniotic fluid cells in the second trimester; detection of severe genodermatoses expressed in the fetal period
    • Akiyama M, Holbrook KA. 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.
    • (1994) J Invest Dermatol , vol.103 , pp. 674-677
    • Akiyama, M.1    Holbrook, K.A.2
  • 7
    • 0028069212 scopus 로고
    • Characteristic morphologic abnormality of harlequin ichthyosis detected in amniotic fluid cells
    • Akiyama M, Kim D-K, Main DM, et al. Characteristic morphologic abnormality of harlequin ichthyosis detected in amniotic fluid cells. J Invest Dermatol 1994; 102: 210-213.
    • (1994) J Invest Dermatol , vol.102 , pp. 210-213
    • Akiyama, M.1    Kim, D.-K.2    Main, D.M.3
  • 8
    • 0025020601 scopus 로고
    • Heterogeneity in harlequin ichthyosis, an inborn error of epidermal keratinization: Variable morphology and structural protein expression and a defect in lamellar granules
    • Dale BA, Holbrook KA, Fleckman P, et al. 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.
    • (1990) J Invest Dermatol , vol.94 , pp. 6-18
    • Dale, B.A.1    Holbrook, K.A.2    Fleckman, P.3
  • 10
    • 0026628251 scopus 로고
    • Harlequin fetus with abnormal lamellar granules and giant mitochondria
    • Hashimoto K, Khan S. Harlequin fetus with abnormal lamellar granules and giant mitochondria. J Cutan Pathol 1992; 19: 247-252.
    • (1992) J Cutan Pathol , vol.19 , pp. 247-252
    • Hashimoto, K.1    Khan, S.2
  • 12
    • 0031862812 scopus 로고    scopus 로고
    • Regional difference in expression of characteristic abnormality of harlequin ichthyosis in affected fetuses
    • Akiyama M, Dale BA, Smith LT, et al. Regional difference in expression of characteristic abnormality of harlequin ichthyosis in affected fetuses. Prenat Diagn 1998; 18: 425-436.
    • (1998) Prenat Diagn , vol.18 , pp. 425-436
    • Akiyama, M.1    Dale, B.A.2    Smith, L.T.3
  • 13
    • 0030850042 scopus 로고    scopus 로고
    • Harlequin ichthyosis keratinocytes in lifted culture differentiate poorly by morphologic and biochemical criteria
    • Fleckman P, Hager B, Dale BA. Harlequin ichthyosis keratinocytes in lifted culture differentiate poorly by morphologic and biochemical criteria. J Invest Dermatol 1997; 109: 36-38.
    • (1997) J Invest Dermatol , vol.109 , pp. 36-38
    • Fleckman, P.1    Hager, B.2    Dale, B.A.3
  • 14
    • 0021846718 scopus 로고
    • Harlequin fetus successfully treated with etretinate
    • Lawlor F, Peiris S. Harlequin fetus successfully treated with etretinate. Br J Dermatol 1985; 112: 585-590.
    • (1985) Br J Dermatol , vol.112 , pp. 585-590
    • Lawlor, F.1    Peiris, S.2
  • 15
    • 0024261531 scopus 로고
    • Progress of a harlequin fetus to nonbullous ichthyosiform erythroderma
    • Lawlor F. Progress of a harlequin fetus to nonbullous ichthyosiform erythroderma. Pediatrics 1988; 82: 870-873.
    • (1988) Pediatrics , vol.82 , pp. 870-873
    • Lawlor, F.1
  • 16
    • 0024453588 scopus 로고
    • Harlequin baby treated with etretinate
    • Rogers M, Scraf C. Harlequin baby treated with etretinate. Pediatr Dermatol 1989; 6: 216-221.
    • (1989) Pediatr Dermatol , vol.6 , pp. 216-221
    • Rogers, M.1    Scraf, C.2
  • 17
    • 0024324658 scopus 로고
    • Long-term survival of a harlequin fetus
    • Roberts LJ. Long-term survival of a harlequin fetus. J Am Acad Dermatol 1989; 21: 335-339.
    • (1989) J Am Acad Dermatol , vol.21 , pp. 335-339
    • Roberts, L.J.1
  • 18
    • 0024448985 scopus 로고
    • Successful treatment of a harlequin fetus
    • Ward PS, Jones RD. Successful treatment of a harlequin fetus. Arch Dis Child 1989; 64: 1309-1311.
    • (1989) Arch Dis Child , vol.64 , pp. 1309-1311
    • Ward, P.S.1    Jones, R.D.2
  • 19
    • 0028305379 scopus 로고
    • Management and follow-up of harlequin siblings
    • Prasad RS, Pejaver RK, Hassan A, et al. Management and follow-up of harlequin siblings. Br J Dermatol 1994; 130: 650-653.
    • (1994) Br J Dermatol , vol.130 , pp. 650-653
    • Prasad, R.S.1    Pejaver, R.K.2    Hassan, A.3
  • 20
    • 0029794965 scopus 로고    scopus 로고
    • A longitudinal study of a harlequin infant presenting clinically as non-bullous congenital ichthyosiform erythroderma
    • Haftek M, Cambazard F, Dhouailly D, et al. A longitudinal study of a harlequin infant presenting clinically as non-bullous congenital ichthyosiform erythroderma. Br J Dermatol 1996; 135: 448-453.
    • (1996) Br J Dermatol , vol.135 , pp. 448-453
    • Haftek, M.1    Cambazard, F.2    Dhouailly, D.3
  • 21
    • 0030475651 scopus 로고    scopus 로고
    • Cornified cell envelope proteins and keratins are normally distributed in harlequin ichthyosis
    • Akiyama M, Yoneda K, Kim S-Y, et al. Cornified cell envelope proteins and keratins are normally distributed in harlequin ichthyosis. J Cutan Pathol 1996; 23: 571-575
    • (1996) J Cutan Pathol , vol.23 , pp. 571-575
    • Akiyama, M.1    Yoneda, K.2    Kim, S.-Y.3
  • 23
    • 0026683842 scopus 로고
    • Membrane structural abnormalities in the stratum corneum of the autosomal recessive ichthyoses
    • Ghadially R, Williams ML, Hou SYE, Elias PM. Membrane structural abnormalities in the stratum corneum of the autosomal recessive ichthyoses. J Invest Dermatol 1992; 99: 755-763.
    • (1992) J Invest Dermatol , vol.99 , pp. 755-763
    • Ghadially, R.1    Williams, M.L.2    Hou, S.Y.E.3    Elias, P.M.4
  • 24
    • 0027180934 scopus 로고
    • Analysis of the cornified cell envelope in lamellar ichthyosis
    • Hohl D, Huber M, Frenk E. Analysis of the cornified cell envelope in lamellar ichthyosis. Arch Dermatol 1993; 129: 618-624.
    • (1993) Arch Dermatol , vol.129 , pp. 618-624
    • Hohl, D.1    Huber, M.2    Frenk, E.3
  • 25
    • 0031020155 scopus 로고    scopus 로고
    • Expression of transglutaminase 1 (transglutaminase K) in harlequin ichthyosis
    • Akiyama M, Kim S-Y, Yoneda K, Shimizu H. Expression of transglutaminase 1 (transglutaminase K) in harlequin ichthyosis. Arch Dermatol Res 1997; 289: 116-119.
    • (1997) Arch Dermatol Res , vol.289 , pp. 116-119
    • Akiyama, M.1    Kim, S.-Y.2    Yoneda, K.3    Shimizu, H.4
  • 26
    • 0021922906 scopus 로고
    • Heterogeneity in autosomal recessive ichthyosis
    • Williams ML, Elias PM. Heterogeneity in autosomal recessive ichthyosis. Arch Dermatol 1985; 121: 477-488.
    • (1985) Arch Dermatol , vol.121 , pp. 477-488
    • Williams, M.L.1    Elias, P.M.2
  • 27
    • 0021185291 scopus 로고
    • Autosomal dominant lamellar ichthyosis: A new skin disorder
    • Traupe H, Kolde G, Happle R. Autosomal dominant lamellar ichthyosis: a new skin disorder. Clin Genet 1984; 26: 457-461.
    • (1984) Clin Genet , vol.26 , pp. 457-461
    • Traupe, H.1    Kolde, G.2    Happle, R.3
  • 28
    • 0022904891 scopus 로고
    • Autosomal dominant lamellar ichthyosis
    • Toribio J, Redondo VF, Peteiro C, et al. Autosomal dominant lamellar ichthyosis. Clin Genet 1986; 30: 122-126.
    • (1986) Clin Genet , vol.30 , pp. 122-126
    • Toribio, J.1    Redondo, V.F.2    Peteiro, C.3
  • 29
    • 0028947560 scopus 로고
    • Mutations of keratinocyte transglutaminase in lamellar ichthyosis
    • Huber M, Rettler I, Bernasconi K, et al. Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 1995; 267: 525-528.
    • (1995) Science , vol.267 , pp. 525-528
    • Huber, M.1    Rettler, I.2    Bernasconi, K.3
  • 30
    • 0028817683 scopus 로고
    • Mutations in the gene for transglutaminase 1 in autosomal dominant lamellar ichthyosis
    • Russell LJ, DiGiovanna JJ, Rogers GR, et al. Mutations in the gene for transglutaminase 1 in autosomal dominant lamellar ichthyosis. Nature Genet 1995; 9: 279-283.
    • (1995) Nature Genet , vol.9 , pp. 279-283
    • Russell, L.J.1    Digiovanna, J.J.2    Rogers, G.R.3
  • 31
    • 0026338017 scopus 로고
    • Transglutaminases: Multifunctional cross-linking enzyme that stabilizes tissues
    • Greenberg CS, Birckbichler PJ, Rice RH. Transglutaminases: multifunctional cross-linking enzyme that stabilizes tissues. FASEB J 1991; 5: 3071-3077.
    • (1991) FASEB J , vol.5 , pp. 3071-3077
    • Greenberg, C.S.1    Birckbichler, P.J.2    Rice, R.H.3
  • 32
    • 0028810865 scopus 로고
    • Lamellar ichthyosis is genetically heterogeneous - Cases with normal keratinocyte transglutaminase
    • Huber M, Rettler I, Bernasconi K, et al. Lamellar ichthyosis is genetically heterogeneous - cases with normal keratinocyte transglutaminase. J Invest Dermatol 1995; 105: 653-654.
    • (1995) J Invest Dermatol , vol.105 , pp. 653-654
    • Huber, M.1    Rettler, I.2    Bernasconi, K.3
  • 33
    • 0026676248 scopus 로고
    • Genetic skin disorders of keratin
    • Fuchs E. Genetic skin disorders of keratin. J Invest Dermatol 1992; 99: 671-674.
    • (1992) J Invest Dermatol , vol.99 , pp. 671-674
    • Fuchs, E.1
  • 34
    • 0027376938 scopus 로고
    • Mutations in the genes for epidermal keratins in epidermolysis bullosa and epidermolytic hyperkeratosis
    • Leigh IM, Lane EB. Mutations in the genes for epidermal keratins in epidermolysis bullosa and epidermolytic hyperkeratosis. Arch Dermatol 1993; 129: 1571-1577.
    • (1993) Arch Dermatol , vol.129 , pp. 1571-1577
    • Leigh, I.M.1    Lane, E.B.2
  • 35
    • 0020692676 scopus 로고
    • Epidermolytic hyperkeratosis: Ultrastructure and biochemistry of skin and amniotic fluid cells from two affected fetuses and a newborn infant
    • Holbrook KA, Dale BA, Sybert VP, Sagebiel RW. Epidermolytic hyperkeratosis: ultrastructure and biochemistry of skin and amniotic fluid cells from two affected fetuses and a newborn infant. J Invest Dermatol 1983; 80: 222-2.27.
    • (1983) J Invest Dermatol , vol.80 , pp. 222-227
    • Holbrook, K.A.1    Dale, B.A.2    Sybert, V.P.3    Sagebiel, R.W.4
  • 36
    • 0026636535 scopus 로고
    • Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma)
    • Ishida-Yamamoto A, McGrath JA, Judge MR, et al. 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.
    • (1992) J Invest Dermatol , vol.99 , pp. 19-26
    • Ishida-Yamamoto, A.1    McGrath, J.A.2    Judge, M.R.3
  • 37
    • 0025233864 scopus 로고
    • Look at the genes, see what's in the jeans
    • Goldsmith L. Look at the genes, see what's in the jeans. Arch Dermatol 1990; 126: 585.
    • (1990) Arch Dermatol , vol.126 , pp. 585
    • Goldsmith, L.1
  • 38
    • 70449162315 scopus 로고
    • Oligophrenia in association with congenital ichthyosis and spastic disorders
    • Sjögren T, Larsson T. Oligophrenia in association with congenital ichthyosis and spastic disorders. Acta Psychiatr Scand 1957; 32(Suppl. 113): 1-112.
    • (1957) Acta Psychiatr Scand , vol.32 , Issue.SUPPL. 113 , pp. 1-112
    • Sjögren, T.1    Larsson, T.2
  • 39
    • 0025919757 scopus 로고
    • + oxidoreductase in cultured fibroblasts
    • + oxidoreductase in cultured fibroblasts. J Clin Invest 1991; 88: 1643-1648.
    • (1991) J Clin Invest , vol.88 , pp. 1643-1648
    • Rizzo, W.B.1    Craft, D.A.2
  • 40
    • 0029664636 scopus 로고    scopus 로고
    • Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene
    • De Laurenzi V, Rogers GR, Hamrock DJ, et al. Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nature Genet 1996; 12: 51-57.
    • (1996) Nature Genet , vol.12 , pp. 51-57
    • De Laurenzi, V.1    Rogers, G.R.2    Hamrock, D.J.3
  • 41
    • 70449210905 scopus 로고
    • A unique case of trichorrhexis nodosa, 'Bamboo hairs'
    • Netherton EW. A unique case of trichorrhexis nodosa, 'Bamboo hairs'. Arch Dermatol 1958; 78: 483-487.
    • (1958) Arch Dermatol , vol.78 , pp. 483-487
    • Netherton, E.W.1
  • 42
    • 0022389469 scopus 로고
    • Netherton's syndrome: A report of a case and review of the literature
    • Greene SL, Muller SA. Netherton's syndrome: a report of a case and review of the literature. J Am Acad Dermatol 1985; 13: 329-337.
    • (1985) J Am Acad Dermatol , vol.13 , pp. 329-337
    • Greene, S.L.1    Muller, S.A.2
  • 43
    • 0021237498 scopus 로고
    • Pathogenesis of trichorrhexis invaginata {Bamboo hair
    • Ito M, Ho K, Hashimoto K. Pathogenesis of trichorrhexis invaginata {Bamboo hair). J Invest Dermatol 1984; 81: 1-6.
    • (1984) J Invest Dermatol , vol.81 , pp. 1-6
    • Ito, M.1    Ho, K.2    Hashimoto, K.3
  • 44
    • 0028077645 scopus 로고
    • A clinical and immunological study of Netherton's syndrome
    • Judge MR, Morgan G, Harper JI. A clinical and immunological study of Netherton's syndrome. Br J Dermatol 1994; 131: 615-621.
    • (1994) Br J Dermatol , vol.131 , pp. 615-621
    • Judge, M.R.1    Morgan, G.2    Harper, J.I.3
  • 45
    • 0030018792 scopus 로고    scopus 로고
    • Lanceolate hair (lah): A recessive mouse mutation with alopecia and abnormal hair
    • Montagutelli X, Hogan ME, Aubin G, et al. Lanceolate hair (lah): a recessive mouse mutation with alopecia and abnormal hair. J Invest Dermatol 1996; 107: 20-25.
    • (1996) J Invest Dermatol , vol.107 , pp. 20-25
    • Montagutelli, X.1    Hogan, M.E.2    Aubin, G.3
  • 47
    • 0016612085 scopus 로고
    • Neutral lipid storage disease, a new disorder of lipid metabolism
    • Chanarin I, Patel A, Slavin G, et al. Neutral lipid storage disease, a new disorder of lipid metabolism. Br Med J 1975; i: 553-555.
    • (1975) Br Med J , vol.1 , pp. 553-555
    • Chanarin, I.1    Patel, A.2    Slavin, G.3
  • 48
    • 0028276057 scopus 로고
    • Neutral lipid storage disease. Case report and lipid studies
    • Judge MR, Atherton DJA, Salvayre R, et al. Neutral lipid storage disease. Case report and lipid studies. Br J Dermatol 1995; 130: 507-510.
    • (1995) Br J Dermatol , vol.130 , pp. 507-510
    • Judge, M.R.1    Atherton, D.J.A.2    Salvayre, R.3
  • 49
    • 0021806009 scopus 로고
    • Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion
    • Elias PM, Williams ML. Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion. Arch Dermatol 1985; 121: 1000-1008.
    • (1985) Arch Dermatol , vol.121 , pp. 1000-1008
    • Elias, P.M.1    Williams, M.L.2
  • 50
    • 0028834525 scopus 로고
    • The turnover of cytoplasmic triacylglycerols in human fibroblasts involves two separate acyl chain length-dependent degradation pathways
    • Hilaire N, Salvayre R, Thiers J-C, et al. The turnover of cytoplasmic triacylglycerols in human fibroblasts involves two separate acyl chain length-dependent degradation pathways. J Biol Chem 1995; 270: 27 027-27 034.
    • (1995) J Biol Chem , vol.270 , pp. 27027-27034
    • Hilaire, N.1    Salvayre, R.2    Thiers, J.-C.3
  • 51
    • 0041568809 scopus 로고
    • Lamellar ichthyosis of the newborn
    • Bloom D, Goodfried MS. Lamellar ichthyosis of the newborn. Arch Dermatol 1962; 86: 336-342.
    • (1962) Arch Dermatol , vol.86 , pp. 336-342
    • Bloom, D.1    Goodfried, M.S.2
  • 52
    • 0017256866 scopus 로고
    • Le bébé collodion. Evolution à propos de 29 cas
    • Larrègue M, Gharbi R, Daniel J, et al. Le bébé collodion. Evolution à propos de 29 cas. Ann Dermatol Syphiligr 1976; 103: 31-56.
    • (1976) Ann Dermatol Syphiligr , vol.103 , pp. 31-56
    • Larrègue, M.1    Gharbi, R.2    Daniel, J.3
  • 53
    • 0017611220 scopus 로고
    • The keratinization disorder in collodion babies evolving into lamellar ichthyosis. Its possible relevance for determining the primary defect in lamellar ichthyosis
    • Frenk E, Mevorah B. The keratinization disorder in collodion babies evolving into lamellar ichthyosis. Its possible relevance for determining the primary defect in lamellar ichthyosis. J Cutan Pathol 1977; 4: 329-337.
    • (1977) J Cutan Pathol , vol.4 , pp. 329-337
    • Frenk, E.1    Mevorah, B.2
  • 54
    • 0030751058 scopus 로고    scopus 로고
    • Collodion baby: Ultrastructure and distribution of cornified cell envelope proteins and keratins
    • Akiyama M Shimizu H, Yoneda K, Nishikawa T. Collodion baby: ultrastructure and distribution of cornified cell envelope proteins and keratins. Dermatology 1997; 195: 164-168.
    • (1997) Dermatology , vol.195 , pp. 164-168
    • Akiyama, M.1    Shimizu, H.2    Yoneda, K.3    Nishikawa, T.4
  • 55
    • 0029075736 scopus 로고
    • Efficacy, tolerability, and safety of calcipotriol ointment in disorders of keratinization
    • Kragballe K, Steijlen PM, Ibsen HH, et al. Efficacy, tolerability, and safety of calcipotriol ointment in disorders of keratinization. Arch Dermatol 1995; 131: 556-560.
    • (1995) Arch Dermatol , vol.131 , pp. 556-560
    • Kragballe, K.1    Steijlen, P.M.2    Ibsen, H.H.3
  • 56
    • 0029955227 scopus 로고    scopus 로고
    • An appraisal of acitretin therapy in children with inherited disorders of keratinization
    • Lacour M, Mehta-Nikhar B, Atherton DJ, Harper JI. An appraisal of acitretin therapy in children with inherited disorders of keratinization. Br J Dermatol 1996; 134: 1023-1029.
    • (1996) Br J Dermatol , vol.134 , pp. 1023-1029
    • Lacour, M.1    Mehta-Nikhar, B.2    Atherton, D.J.3    Harper, J.I.4
  • 57
    • 0027376504 scopus 로고
    • Prenatal diagnosis of genetic skin disease using fetal skin biopsy samples
    • Holbrook KA, Smith LT, Elias S. Prenatal diagnosis of genetic skin disease using fetal skin biopsy samples. Arch Dermatol 1993; 119: 1437-1454.
    • (1993) Arch Dermatol , vol.119 , pp. 1437-1454
    • Holbrook, K.A.1    Smith, L.T.2    Elias, S.3
  • 58
    • 0027375255 scopus 로고
    • DNA-based prenatal diagnosis of heritable skin diseases
    • Christiane AM, Uitto J. DNA-based prenatal diagnosis of heritable skin diseases. Arch Dermatol 1993; 129: 1455-1459.
    • (1993) Arch Dermatol , vol.129 , pp. 1455-1459
    • Christiane, A.M.1    Uitto, J.2
  • 59
    • 0021103251 scopus 로고
    • Prenatal diagnosis of harlequin fetus
    • Blanchet-Bardon C, Dumez Y, Labbé F, et al. Prenatal diagnosis of harlequin fetus. Lancet 1983; i: 132.
    • (1983) Lancet , vol.1 , pp. 132
    • Blanchet-Bardon, C.1    Dumez, Y.2    Labbé, F.3
  • 60
    • 0020333251 scopus 로고
    • Prenatal diagnosis of Sjögren-Larsson syndrome
    • Kousseff BG, Matsuoka LT, Stenn KS, et al. Prenatal diagnosis of Sjögren-Larsson syndrome. J Pediatr 1981; 101: 998-1001.
    • (1981) J Pediatr , vol.101 , pp. 998-1001
    • Kousseff, B.G.1    Matsuoka, L.T.2    Stenn, K.S.3
  • 61
    • 0027179309 scopus 로고
    • Sjögren-Larsson syndrome: Technique and timing of prenatal diagnosis
    • Tabsh K, Rizzo WB, Holbrook KA, Theroux N. Sjögren-Larsson syndrome: technique and timing of prenatal diagnosis. Obstet Gynecol 1993; 82: 700-703.
    • (1993) Obstet Gynecol , vol.82 , pp. 700-703
    • Tabsh, K.1    Rizzo, W.B.2    Holbrook, K.A.3    Theroux, N.4
  • 62
    • 0028168989 scopus 로고
    • Prenatal diagnosis of Sjögren-Larsson syndrome using enzymatic methods
    • Rizzo WB, Craft DA, Kelson TL, et al. Prenatal diagnosis of Sjögren-Larsson syndrome using enzymatic methods. Prenat Diagn 1994; 14: 577-581.
    • (1994) Prenat Diagn , vol.14 , pp. 577-581
    • Rizzo, W.B.1    Craft, D.A.2    Kelson, T.L.3
  • 63
    • 0024230937 scopus 로고
    • The expression of congenital ichthyosiform erythroderma in second trimester fetuses of the same family: Morphologic and biochemical studies
    • Holbrook KA, Dale BA, Williams ML, et al. 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.
    • (1988) J Invest Dermatol , vol.91 , pp. 521-531
    • Holbrook, K.A.1    Dale, B.A.2    Williams, M.L.3
  • 64
    • 84886565025 scopus 로고
    • Cornified cell envelope (CCE) in human fetal skin: Involucrin, keratolinin, loricrin and transglutaminase expression and activity
    • Holbrook KA, Underwood RA, Dale BA, et al. Cornified cell envelope (CCE) in human fetal skin: involucrin, keratolinin, loricrin and transglutaminase expression and activity. J Invest Dermatol 1991; 96: 542.
    • (1991) J Invest Dermatol , vol.96 , pp. 542
    • Holbrook, K.A.1    Underwood, R.A.2    Dale, B.A.3
  • 65
    • 3543069956 scopus 로고    scopus 로고
    • Expression of transglutaminase 1 (TG1) and cornified cell envelope (CCE) proteins during human epidermal development
    • Akiyama M, Smith LT, Yoneda K, et al. Expression of transglutaminase 1 (TG1) and cornified cell envelope (CCE) proteins during human epidermal development. J Invest Dermatol 1997; 108: 598.
    • (1997) J Invest Dermatol , vol.108 , pp. 598
    • Akiyama, M.1    Smith, L.T.2    Yoneda, K.3
  • 66
    • 0018923539 scopus 로고
    • Prenatal diagnosis of congenital bullous ichthyosiform erythroderma (epidermolytic hyperkeratosis) by fetal skin biopsy
    • Golbus MS, Sagebiel RW, Filly RA, et al. Prenatal diagnosis of congenital bullous ichthyosiform erythroderma (epidermolytic hyperkeratosis) by fetal skin biopsy. N Eng J Med 1980; 302: 93-95.
    • (1980) N Eng J Med , vol.302 , pp. 93-95
    • Golbus, M.S.1    Sagebiel, R.W.2    Filly, R.A.3
  • 67
    • 0028012903 scopus 로고
    • Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing
    • Rothnagel JA, Longley MA, Holder RA, et al. Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing. J Invest Dermatol 1994; 102: 13-16.
    • (1994) J Invest Dermatol , vol.102 , pp. 13-16
    • Rothnagel, J.A.1    Longley, M.A.2    Holder, R.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.