Journal of the American Academy of Dermatology
Volume 63, Issue 4 , Pages 607-641 , October 2010

Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009

  • Vinzenz Oji, MD

      Affiliations

    • Department of Dermatology, University Hospital Münster, Münster, Germany
    • Corresponding Author InformationReprint requests: Vinzenz Oji, MD, Department of Dermatology, University Hospital Münster, Von-Esmarch-Str. 58, 48149 Münster, Germany.
  • ,
  • Gianluca Tadini, MD

      Affiliations

    • Centro Malattie Cutanee Ereditarie, Istituto di Scienze Dermatologiche, Istituto Di Ricovero e Cura a Carattere Scientifico Ospedale Maggiore, Milano, Italy
  • ,
  • Masashi Akiyama, MD, PhD

      Affiliations

    • Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
  • ,
  • Claudine Blanchet Bardon, MD

      Affiliations

    • Department of Dermatology, Saint-Louis Hospital, Paris, France
  • ,
  • Christine Bodemer, MD, PhD

      Affiliations

    • Department of Dermatology, Necker Enfants Malades Hospital (Assistance Publique Hopitaux de Paris [APHP])–University Paris V, National Reference Centre for Genodermatoseis Centre de reference sur les Maladies Génétiques à Expression Cutanée, Paris, France
  • ,
  • Emmanuelle Bourrat, MD

      Affiliations

    • Department of Dermatology, Saint-Louis Hospital, Paris, France
  • ,
  • Philippe Coudiere, PharmD

      Affiliations

    • Pierre Fabre Dermatologie, Lavaur, France
  • ,
  • John J. DiGiovanna, MD

      Affiliations

    • Division of Dermatopharmacology, Department of Dermatology, The Warren Alpert School of Medicine of Brown University, Providence, Rhode Island
  • ,
  • Peter Elias, MD

      Affiliations

    • Dermatology, Department of Veterans Affairs Medical Center, San Francisco, California
  • ,
  • Judith Fischer, MD, PhD

      Affiliations

    • Centre National de Génotypage, Evry, France
  • ,
  • Philip Fleckman, MD

      Affiliations

    • Division of Dermatology, University of Washington, Seattle, Washington
  • ,
  • Michal Gina, MD

      Affiliations

    • Hospices Cantonaux–Centre Hospitalier, Universitaire Vaudois, Service de Dermatologie des Hospices, Lausanne, Switzerland
  • ,
  • John Harper, MD, FCRCP, FRCPCH

      Affiliations

    • Great Ormond Street Children's Hospital, London, United Kingdom
  • ,
  • Takashi Hashimoto, MD

      Affiliations

    • Department of Dermatology, Kurume University School of Medicine, Fukuoka, Japan
  • ,
  • Ingrid Hausser, PhD

      Affiliations

    • Department of Dermatology, University Hospital Heidelberg, Heidelberg, Germany
  • ,
  • Hans Christian Hennies, PhD

      Affiliations

    • Cologne Center for Genomics, Division of Dermatogenetics, University of Cologne, Cologne, Germany
  • ,
  • Daniel Hohl, MD, PhD

      Affiliations

    • Hospices Cantonaux–Centre Hospitalier, Universitaire Vaudois, Service de Dermatologie des Hospices, Lausanne, Switzerland
  • ,
  • Alain Hovnanian, MD, PhD

      Affiliations

    • Departments of Genetics and Dermatology, Necker Enfants Malades Hospital (APHP)–University Paris V, Paris, France
    • Institut national de la santé et de la recherche médicale U781, Paris, France
  • ,
  • Akemi Ishida-Yamamoto, MD, PhD

      Affiliations

    • Department of Dermatology, Asahikawa Medical College, Asahikawa, Japan
  • ,
  • Witold K. Jacyk, MD

      Affiliations

    • Department of Dermatology, University of Pretoria, Pretoria, South Africa
  • ,
  • Sancy Leachman, MD, PhD

      Affiliations

    • University of Utah Health Sciences Center, Salt Lake City, Utah
  • ,
  • Irene Leigh, MD, FRCP, FMedSci

      Affiliations

    • Queen Mary and Westfield College, Centre for Cutaneous Research, Institute of Cell and Molecular Science, Barts and the London Medical School Queen Mary, London, United Kingdom
  • ,
  • Juliette Mazereeuw-Hautier, MD, PhD

      Affiliations

    • Reference Center for Rare Skin Diseases, Department of Dermatology, Purpan Hospital, Toulouse, France
  • ,
  • Leonard Milstone, MD

      Affiliations

    • Yale University, New Haven, Connecticut
  • ,
  • Fanny Morice-Picard, MD

      Affiliations

    • Department of Dermatology and Pediatric Dermatology, National Reference Center for Rare Skin Diseases, Hôpital St André, Bordeaux, France
  • ,
  • Amy S. Paller, MS, MD

      Affiliations

    • Departments of Dermatology and Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois
  • ,
  • Gabriele Richard, MD, FACMG

      Affiliations

    • GeneDx, Gaithersburg, Maryland
  • ,
  • Matthias Schmuth, MD

      Affiliations

    • University of California San Francisco, San Francisco, California
    • Department of Dermatology, Innsbruck Medical University, Innsbruck, Austria
  • ,
  • Hiroshi Shimizu, MD, PhD

      Affiliations

    • Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
  • ,
  • Eli Sprecher, MD, PhD

      Affiliations

    • Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
  • ,
  • Maurice Van Steensel, MD, PhD

      Affiliations

    • Department of Dermatology, Maastricht University Medical Center and GROW Research School for Oncology and Developmental Biology, University of Maastricht, Maastricht, The Netherlands
  • ,
  • Alain Taïeb, MD

      Affiliations

    • Department of Dermatology and Pediatric Dermatology, National Reference Center for Rare Skin Diseases, Hôpital St André, Bordeaux, France
  • ,
  • Jorge R. Toro, MD

      Affiliations

    • Genetics Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland
  • ,
  • Pierre Vabres, MD

      Affiliations

    • Université de Bourgogne, Department of Dermatology, Hôpital du Bocage, Dijon, France
  • ,
  • Anders Vahlquist, MD, PhD

      Affiliations

    • Department of Medical Sciences, Dermatology and Venereology, Uppsala University, Uppsala, Sweden
  • ,
  • Mary Williams, MD

      Affiliations

    • University of California San Francisco, San Francisco, California
  • ,
  • Heiko Traupe, MD

      Affiliations

    • Department of Dermatology, University Hospital Münster, Münster, Germany

,Accepted 17 November 2009.

References 

  1. Williams ML, Elias PM. Ichthyosis: genetic heterogeneity, genodermatoses, and genetic counseling. Arch Dermatol. 1986;122:529–531
  2. Willan R. On cutaneous diseases. London: Barnard; 1808;
  3. Traupe H. The ichthyoses: a guide to clinical diagnosis, genetic counseling, and therapy. Berlin: Springer Verlag; 1989;
  4. Akiyama M, Shimizu H. An update on molecular aspects of the non-syndromic ichthyoses. Exp Dermatol. 2008;17:373–382
  5. DiGiovanna JJ, Robinson-Bostom L. Ichthyosis: etiology, diagnosis, and management. Am J Clin Dermatol. 2003;4:81–95
  6. DiGiovanna JJ. Ichthyosiform dermatoses: so many discoveries, so little progress. J Am Acad Dermatol. 2004;51(Suppl):S31–S34
  7. Elias PM, Williams ML, Holleran WM, Jiang YJ, Schmuth M. Thematic review series: skin lipids. Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism. J Lipid Res. 2008;49:697–714
  8. Elias PM, Williams ML, Crumrine D, Schmuth M. Ichthyoses - Clinical, Biochemical, Pathogenic and Diagnostic Assessment. Karger. In press.
  9. Oji V, Traupe H. Ichthyoses: differential diagnosis and molecular genetics. Eur J Dermatol. 2006;16:349–359
  10. Richard G. Molecular genetics of the ichthyoses. Semin Med Genet. 2004;131C:32–44
  11. Schmuth M, Gruber R, Elias PM, Williams ML. Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders. Adv Dermatol. 2007;23:231–256
  12. Siemens HW. Die Vererbung in der Ätiologie der Hautkrankheiten. In:  Jadassohn J editors. Handbuch der Haut- und Geschlechtskrankheiten 3. Berlin: Springer Verlag; 1929;p. 1–165
  13. Schnyder UW. Inherited ichthyoses. Arch Dermatol. 1970;102:240–252
  14. Riecke E. Über ichthyosis congenita. Arch Dermatol Syph. 1900;54:289–340
  15. Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, et al. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet. 2005;76:794–803
  16. Akiyama M, Sugiyama-Nakagiri Y, Sakai K, McMillan JR, Goto M, Arita K, et al. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest. 2005;115:1777–1784
  17. Lefevre C, Audebert S, Jobard F, Bouadjar B, Lakhdar H, Boughdene-Stambouli O, et al. Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Hum Mol Genet. 2003;12:2369–2378
  18. Parmentier L, Lakhdar H, Blanchet-Bardon C, Marchand S, Dubertret L, Weissenbach J. Mapping of a second locus for lamellar ichthyosis to chromosome 2q33-35. Hum Mol Genet. 1996;5:555–559
  19. Natsuga K, Akiyama M, Kato N, Sakai K, Sugiyama-Nakagiri Y, Nishimura M, et al. Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia. J Invest Dermatol. 2007;127:2669–2673
  20. Sakai K, Akiyama M, Yanagi T, McMillan JR, Suzuki T, Tsukamoto K, et al. ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. J Invest Dermatol. 2009;129:2306–2309
  21. Lawlor F. Progress of a harlequin fetus to nonbullous ichthyosiform erythroderma. Pediatrics. 1988;82:870–873
  22. Huber M, Rettler I, Bernasconi K, Frenk E, Lavrijsen SP, Ponec M, et al. Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science. 1995;267:525–528
  23. Russell LJ, DiGiovanna JJ, Rogers GR, Steinert PM, Hashem N, Compton JG, et al. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat Genet. 1995;9:279–283
  24. Lefevre C, Bouadjar B, Karaduman A, Jobard F, Saker S, Ozguc M, et al. Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. Hum Mol Genet. 2004;13:2473–2482
  25. Lefevre C, Bouadjar B, Ferrand V, Tadini G, Megarbane A, Lathrop M, et al. Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. Hum Mol Genet. 2006;15:767–776
  26. Jobard F, Lefevre C, Karaduman A, Blanchet-Bardon C, Emre S, Weissenbach J, et al. Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum Mol Genet. 2002;11:107–113
  27. Fischer J. Autosomal recessive congenital ichthyosis. J Invest Dermatol. 2009;129:1319–1321
  28. Eckl KM, de Juanes S, Kurtenbach J, Natebus M, Lugassy J, Oji V, et al. Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. J Invest Dermatol. 2009;129:1421–1428
  29. Hatsell SJ, Stevens H, Jackson AP, Kelsell DP, Zvulunov A. An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13. Br J Dermatol. 2003;149:174–180
  30. Mizrachi-Koren M, Geiger D, Indelman M, Bitterman-Deutsch O, Bergman R, Sprecher E. Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13. J Invest Dermatol. 2005;125:456–462
  31. Akiyama M, Sawamura D, Shimizu H. The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. Clin Exp Dermatol. 2003;28:235–240
  32. Arita K, Jacyk WK, Wessagowit V, van Rensburg EJ, Chaplin T, Mein CA, et al. The South African “bathing suit ichthyosis” is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1. J Invest Dermatol. 2007;127:490–493
  33. Dahlqvist J, Klar J, Hausser I, Anton-Lamprecht I, Pigg MH, Gedde-Dahl T, et al. Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis. J Med Genet. 2007;44:615–620
  34. Eckl KM, Krieg P, Kuster W, Traupe H, Andre F, Wittstruck N, et al. Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. Hum Mutat. 2005;26:351–361
  35. Farasat S, Wei MH, Herman M, Liewehr DJ, Steinberg SM, Bale SJ, et al. Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. J Med Genet. 2009;46:103–111
  36. Frenk E. A spontaneously healing collodion baby: a light and electron microscopical study. Acta Derm Venereol. 1981;61:168–171
  37. Harting M, Brunetti-Pierri N, Chan CS, Kirby J, Dishop MK, Richard G, et al. Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene. Arch Dermatol. 2008;144:351–356
  38. Hennies HC, Kuster W, Wiebe V, Krebsova A, Reis A. Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis. Am J Hum Genet. 1998;62:1052–1061
  39. Herman ML, Farasat S, Steinbach PJ, Wei MH, Toure O, Fleckman P, et al. Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1. Hum Mutat. 2009;30:537–547
  40. Lefevre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, et al. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet. 2001;69:1002–1012
  41. Mazereeuw-Hautier J, Aufenvenne K, Deraison C, Ahvazi B, Oji V, Traupe H, et al. Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation. Br J Dermatol. 2009;161:456–463
  42. Oji V, Hautier JM, Ahvazi B, Hausser I, Aufenvenne K, Walker T, et al. Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. Hum Mol Genet. 2006;15:3083–3097
  43. Petit E, Huber M, Rochat A, Bodemer C, Teillac-Hamel D, Muh JP, et al. Three novel point mutations in the keratinocyte transglutaminase (TGK) gene in lamellar ichthyosis: significance for mutant transcript level, TGK immunodetection and activity. Eur J Hum Genet. 1997;5:218–228
  44. Raghunath M, Hennies HC, Ahvazi B, Vogel M, Reis A, Steinert PM, et al. Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. J Invest Dermatol. 2003;120:224–228
  45. Vahlquist A, Ganemo A, Pigg M, Virtanen M, Westermark P. The clinical spectrum of congenital ichthyosis in Sweden: a review of 127 cases. Acta Derm Venereol Suppl (Stockh). 2003;83(3):34–47
  46. Vahlquist A, Ganemo A, Virtanen M. Congenital ichthyosis: an overview of current and emerging therapies. Acta Derm Venereol. 2008;88:4–14
  47. Jacyk WK. Bathing-suit ichthyosis: a peculiar phenotype of lamellar ichthyosis in South African blacks. Eur J Dermatol. 2005;15:433–436
  48. Aufenvenne K, Oji V, Walker T, Becker-Pauly C, Hennies HC, Stocker W, et al. Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions. J Invest Dermatol. 2009;129:2068–2071
  49. Reed WB, Herwick RP, Harville D, Porter PS, Conant M. Lamellar ichthyosis of the newborn: a distinct clinical entity; its comparison to the other ichthyosiform erythrodermas. Arch Dermatol. 1972;105:394–399
  50. Anton-Lamprecht I. Prenatal diagnosis of genetic disorders of the skin by means of electron microscopy. Hum Genet. 1981;59:392–405
  51. Anton-Lamprecht I. Genetically induced abnormalities of epidermal differentiation and ultrastructure in ichthyoses and epidermolyses: pathogenesis, heterogeneity, fetal manifestation, and prenatal diagnosis. J Invest Dermatol. 1983;81:149s–156s
  52. Frost P, Weinstein GD, Van Scott EJ. The ichthyosiform dermatoses, II: autoradiographic studies of epidermal proliferation. J Invest Dermatol. 1966;47:561–567
  53. Ishida-Yamamoto A, McGrath JA, Judge MR, Leigh IM, Lane EB, Eady RA. 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
  54. Ishida-Yamamoto A, Takahashi H, Iizuka H. Immunoelectron microscopy links molecules and morphology in the studies of keratinization. Eur J Dermatol. 2000;10:429–435
  55. Lapière S. Epidermolyse ichthyosiforme congénitale (erythrodermie ichthyosiforme congénital forme bulleuse de Brocq). Ann Dermatol Syph. 1932;3:401–415
  56. Grimberg G, Hausser I, Muller FB, Wodecki K, Schaffrath C, Krieg T, et al. Novel and recurrent mutations in the 1B domain of keratin 1 in palmoplantar keratoderma with tonotubules. Br J Dermatol. 2009;160:446–449
  57. Ishida-Yamamoto A, Richard G, Takahashi H, Iizuka H. In vivo studies of mutant keratin 1 in ichthyosis hystrix Curth-Macklin. J Invest Dermatol. 2003;120:498–500
  58. Ollendorff-Curth H, Allen FH, Schnyder UW, Anton-Lamprecht I. Follow-up of a family group suffering from ichthyosis hystrix type Curth-Macklin. Humangenetik. 1972;17:37–48
  59. Sprecher E, Ishida-Yamamoto A, Becker OM, Marekov L, Miller CJ, Steinert PM, et al. Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix. J Invest Dermatol. 2001;116:511–519
  60. Schmuth M, Yosipovitch G, Williams ML, Weber F, Hintner H, Ortiz-Urda S, et al. Pathogenesis of the permeability barrier abnormality in epidermolytic hyperkeratosis. J Invest Dermatol. 2001;117:837–847
  61. Traupe H, Kolde G, Hamm H, Happle R. Ichthyosis bullosa of Siemens: a unique type of epidermolytic hyperkeratosis. J Am Acad Dermatol. 1986;14:1000–1005
  62. DiGiovanna JJ, Bale SJ. Clinical heterogeneity in epidermolytic hyperkeratosis. Arch Dermatol. 1994;130:1026–1035
  63. Arin MJ. The molecular basis of human keratin disorders. Hum Genet. 2009;125:355–373
  64. Bale SJ, DiGiovanna JJ. Genetic approaches to understanding the keratinopathies. Adv Dermatol. 1997;12:99–113
  65. DiGiovanna JJ, Bale SJ. Epidermolytic hyperkeratosis: applied molecular genetics. J Invest Dermatol. 1994;102:390–394
  66. Morais P, Mota A, Baudrier T, Lopes JM, Cerqueira R, Tavares P, et al. Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation. Eur J Dermatol. 2009;19:333–336
  67. Muller FB, Huber M, Kinaciyan T, Hausser I, Schaffrath C, Krieg T, et al. A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. Hum Mol Genet. 2006;15:1133–1141
  68. Curth H, Macklin MT. The genetic basis of various types of ichthyosis in a family group. Am J Hum Genet. 1954;6:371–382
  69. Jan AY, Amin S, Ratajczak P, Richard G, Sybert VP. Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. J Invest Dermatol. 2004;122:1108–1113
  70. Joh GY, Traupe H, Metze D, Nashan D, Huber M, Hohl D, et al. A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma. J Invest Dermatol. 1997;108:357–361
  71. Sybert VP, Francis JS, Corden LD, Smith LT, Weaver M, Stephens K, et al. Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1. Am J Hum Genet. 1999;64:732–738
  72. Nazzaro V, Ermacora E, Santucci B, Caputo R. Epidermolytic hyperkeratosis: generalized form in children from parents with systematized linear form. Br J Dermatol. 1990;122:417–422
  73. Paller AS, Syder AJ, Chan YM, Yu QC, Hutton E, Tadini G, et al. Genetic and clinical mosaicism in a type of epidermal nevus. N Engl J Med. 1994;331:1408–1415
  74. Tsubota A, Akiyama M, Sakai K, Goto M, Nomura Y, Ando S, et al. Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis. J Invest Dermatol. 2007;127:1371–1374
  75. De Laurenzi V, Rogers GR, Hamrock DJ, Marekov LN, Steinert PM, Compton JG, et al. Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nat Genet. 1996;12:52–57
  76. Sjögren T, Larsson T. Oligophrenia in combination with congenital ichthyosis and spastic disorders: a clinical and genetic study. Acta Psychiatr Neurol Scand. 1957;32:1-112s
  77. Refsum S, Salomonsen L, Skatvedt M. Heredopathia atactica polyneuritiformis in children. J Pediatr. 1949;35:335–343
  78. Reed WB, Stone VM, Boder E, Ziprkowski L. Hereditary syndromes with auditory and dermatological manifestations. Arch Dermatol. 1967;95:456–461
  79. Chanarin I, Patel A, Slavin G, Wills EJ, Andrews TM, Stewart G. Neutral-lipid storage disease: a new disorder of lipid metabolism. Br Med J. 1975;1:553–555
  80. Dorfman ML, Hershko C, Eisenberg S, Sagher F. Ichthyosiform dermatosis with systemic lipidosis. Arch Dermatol. 1974;110:261–266
  81. MacLeod JMH. Three cases of ‘ichthyosis follicularis’ associated with baldness. Br J Dermatol. 1909;21:165–189
  82. Hamm H, Meinecke P, Traupe H. Further delineation of the ichthyosis follicularis, atrichia, and photophobia syndrome. Eur J Pediatr. 1991;150:627–629
  83. Happle R. X-linked dominant chondrodysplasia punctata: review of literature and report of a case. Hum Genet. 1979;53:65–73
  84. Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, et al. Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome. Nat Genet. 1999;22:291–294
  85. Castano SE, Segurado RA, Guerra TA, Simon de las HR, Lopez-Rios F. Coll Rosell MJ. Ichthyosis: the skin manifestation of multiple sulfatase deficiency. Pediatr Dermatol. 1997;14:369–372
  86. Dierks T, Schmidt B, Borissenko LV, Peng J, Preusser A, Mariappan M, et al. Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme. Cell. 2003;113:435–444
  87. Happle R, Kuster W. Ichthyosis variegata: a new name for a neglected disease. J Am Acad Dermatol. 1997;36:500
  88. Brusasco A, Tadini G, Cambiaghi S, Ermacora E, Grimalt R, Caputo R. A case of congenital reticular ichthyosiform erythroderma–ichthyosis ‘en confettis’. Dermatology. 1994;188:40–45
  89. Bygum A, Westermark P, Brandrup F. Ichthyosis prematurity syndrome: a well-defined congenital ichthyosis subtype. J Am Acad Dermatol. 2008;59(Suppl):S71–S74
  90. Klar J, Schweiger M, Zimmerman R, Zechner R, Li H, Torma H, et al. Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. Am J Hum Genet. 2009;85:248–253
  91. Phadnis SV, Griffin DR, Eady RA, Rodeck CH, Chitty LS. Prenatal diagnosis and management strategies in a family with a rare type of congenital ichthyosis. Ultrasound Obstet Gynecol. 2007;30:908–910
  92. Faghri S, Tamura D, Kraemer KH, DiGiovanna JJ. Trichothiodystrophy: a systematic review of 112 published cases characterizes a wide spectrum of clinical manifestations. J Med Genet. 2008;45:609–621
  93. Kraemer KH, Patronas NJ, Schiffmann R, Brooks BP, Tamura D, DiGiovanna JJ. Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. Neuroscience. 2007;145:1388–1396
  94. Morice-Picard F, Cario-André M, Rezvani H, Sarasin A, Lacombe D, Taieb A. New clinico-genetic classification of trichothiodystrophy. Am J Med Genet. 2009;149A:2020–2030
  95. Camisa C, Hessel A, Rossana C, Parks A. Autosomal dominant keratoderma, ichthyosiform dermatosis and elevated serum beta-glucuronidase. Dermatologica. 1988;177:341–347
  96. Korge BP, Ishida-Yamamoto A, Punter C, Dopping-Hepenstal PJ, Iizuka H, Stephenson A, et al. Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis. J Invest Dermatol. 1997;109:604–610
  97. Maestrini E, Monaco AP, McGrath JA, Ishida-Yamamoto A, Camisa C, Hovnanian A, et al. A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. Nat Genet. 1996;13:70–77
  98. Sprecher E, Ishida-Yamamoto A, Mizrahi-Koren M, Rapaport D, Goldsher D, Indelman M, et al. A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. Am J Hum Genet. 2005;77:242–251
  99. Gissen P, Johnson CA, Morgan NV, Stapelbroek JM, Forshew T, Cooper WN, et al. Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome. Nat Genet. 2004;36:400–404
  100. Lutz-Richner AR, Landolt RF. Familial bile duct malformation with tubular renal insufficiency (Familiare Gallengansmissbildungen mit tubularer Neireninsuffizienz). Helv Paediatr Acta. 1973;28:1–12
  101. Jang JY, Kim KM, Kim GH, Yu E, Lee JJ, Park YS, et al. Clinical characteristics and VPS33B mutations in patients with ARC syndrome. J Pediatr Gastroenterol Nutr. 2009;48:348–354
  102. Montpetit A, Cote S, Burstein E, Drouin C, Lapointe L, Boudreau M, et al. Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord. Proc Natl Acad Sci U S A. 2009;4:1–9
  103. Feldmeyer L, Huber M, Fellmann F, Beckmann JS, Frenk E, Hohl D. Confirmation of the origin of NISCH syndrome. Hum Mutat. 2006;27:408–410
  104. Hadj-Rabia S, Baala L, Vabres P, Hamel-Teillac D, Jacquemin E, Fabre M, et al. Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease. Gastroenterology. 2004;127:1386–1390
  105. Baala L, Hadj-Rabia S, Hamel-Teillac D, Hadchouel M, Prost C, Leal SM, et al. Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28. J Invest Dermatol. 2002;119:70–76
  106. Basel-Vanagaite L, Attia R, Ishida-Yamamoto A, Rainshtein L, Ben AD, Lurie R, et al. Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. Am J Hum Genet. 2007;80:467–477
  107. Alef T, Torres S, Hausser I, Metze D, Tursen U, Lestringant GG, et al. Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing. J Invest Dermatol. 2009;129:862–869
  108. Lestringant GG, Kuster W, Frossard PM, Happle R. Congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis: a new genodermatosis?. Am J Med Genet. 1998;75:186–189
  109. Pujol RM, Moreno A, Alomar A, De Moragas JM. Congenital ichthyosiform dermatosis with linear keratotic flexural papules and sclerosing palmoplantar keratoderma. Arch Dermatol. 1989;125:103–106
  110. Dahlqvist J, Klar J, Tiwari N, Schuster J, Torma H, Badhai J, et al. A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis. Am J Hum Genet. 2010;86:596–603
  111. Gottron H. Congenital angelegte symmetrische progressive erythrokderatodermie. Zentralbl Haut Geschlechtskrankh. 1922;4:493–494
  112. Darier MJ. Erythro-kératodermie verruqueuse en nappes, symétrique et progressive. Bull Soc Fr Dermatol Syph. 1911;2:252–264
  113. Mendes da Costa S . Erythro- et keratodermia variabilis in a mother and daughter. Acta Derm Venereol. 1925;6:255–261
  114. Richard G, Brown N, Rouan F, Van der Schroeff JG, Bijlsma E, Eichenfield LF, et al. Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. J Invest Dermatol. 2003;120:601–609
  115. Richard G, Smith LE, Bailey RA, Itin P, Hohl D, Epstein EH, et al. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nat Genet. 1998;20:366–369
  116. Macari F, Landau M, Cousin P, Mevorah B, Brenner S, Panizzon R, et al. Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. Am J Hum Genet. 2000;67:1296–1301
  117. van Steensel MA, Oranje AP, Van der Schroeff JG, Wagner A, van Geel M. The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron. Am J Med Genet A. 2009;149A:657–661
  118. Burns FS. A case of generalized congenital keratoderma with unusual involvement of the eyes, ears, and nasal and buccous membranes. J Cutan Dis. 1915;33:255–260
  119. Skinner BA, Greist MC, Norins AL. The keratitis, ichthyosis, and deafness (KID) syndrome. Arch Dermatol. 1981;117:285–289
  120. Gulzow J, Anton-Lamprecht I. Ichthyosis hystrix gravior typus Rheydt: an otologic-dermatologic syndrome (Ichthyosis hystrix gravior Typus Rheydt: ein otologisch-dermatologisches Syndrom). Laryngol Rhinol Otol Stuttg. 1977;56:949–955
  121. Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynanen M, et al. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet. 2002;70:1341–1348
  122. van Steensel MA, Steijlen PM, Bladergroen RS, Hoefsloot EH, van Ravenswaaij-Arts CM, van Geel M. A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation. J Invest Dermatol. 2004;123:291–293
  123. Netherton EW. A unique case of trichorrhexis nodosa; bamboo hairs. AMA Arch Dermatol. 1958;78:483–487
  124. Levy SB, Goldsmith LA. The peeling skin syndrome. J Am Acad Dermatol. 1982;7:606–613
  125. Chavanas S, Bodemer C, Rochat A, Hamel-Teillac D, Ali M, Irvine AD, et al. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet. 2000;25:141–142
  126. Komatsu N, Suga Y, Saijoh K, Liu AC, Khan S, Mizuno Y, et al. Elevated human tissue kallikrein levels in the stratum corneum and serum of peeling skin syndrome-type B patients suggests an over-desquamation of corneocytes. J Invest Dermatol. 2006;126:2338–2342
  127. Vohwinkel KH. Keratoma hereditarium mutilans. Arch Dermatol Syph. 1929;158:354–364
  128. Maestrini E, Korge BP, Ocana-Sierra J, Calzolari E, Cambiaghi S, Scudder PM, et al. A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Hum Mol Genet. 1999;8:1237–1243
  129. Stulli L. Di una variata cutanea. Lettera al direttore dell'Antologia. Estratti dall Antologia di Firence. 1826;71-72:1–3
  130. Fischer J, Bouadjar B, Heilig R, Huber M, Lefevre C, Jobard F, et al. Mutations in the gene encoding SLURP-1 in Mal de Meleda. Hum Mol Genet. 2001;10:875–880
  131. Papillon M, Lefèvre P. Deux cas de kératodermie palmaire et plantaire symétrique familiale (maladie de Meleda) chez le frère et la soeur. Coexistence dans les deux cas d'altérations dentaires graves. Bull Soc Fr Dermatol Syph. 1924;31:82–87
  132. Toomes C, James J, Wood AJ, Wu CL, McCormick D, Lench N, et al. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat Genet. 1999;23:421–424
  133. Coulombe PA, Hutton ME, Letai A, Hebert A, Paller AS, Fuchs E. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. Cell. 1991;66:1301–1311
  134. Lane EB, Rugg EL, Navsaria H, Leigh IM, Heagerty AH, Ishida-Yamamoto A, et al. A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature. 1992;356:244–246
  135. Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, et al. The classification of inherited epidermolysis bullosa (EB): report of the third international consensus meeting on diagnosis and classification of EB. J Am Acad Dermatol. 2008;58:931–950
  136. Haenssle HA, Finkenrath A, Hausser I, Oji V, Traupe H, Hennies HC, et al. Effective treatment of severe thermodysregulation by oral retinoids in a patient with recessive congenital lamellar ichthyosis. Clin Exp Dermatol. 2008;33:578–581
  137. DiGiovanna JJ, Priolo M, Itin P. Approach towards a new classification for ectodermal dysplasias: integration of the clinical and molecular knowledge. Am J Med Genet A. 2009;149A:2068–2070
  138. Salinas CF, Jorgenson RJ, Wright JT, DiGiovanna JJ, Fete MD. 2008 International conference on ectodermal dysplasias classification: conference report. Am J Med Genet A. 2009;149A:1958–1969
  139. Plantin P, Gavanou J, Jouan N, Leroy JP, Guillet G. Collodion skin: a misdiagnosed but frequent clinical aspect of anhidrotic ectodermal dysplasia during the neonatal period (Peau collodionnée: un aspect clinique méconnu mais fréquent des dysplasies ectodermiques anhidrotiques en période néonatale). Ann Dermatol Venereol. 1992;119:821–823
  140. Thomas C, Suranyi E, Pride H, Tyler W. A child with hypohidrotic ectodermal dysplasia with features of a collodion membrane. Pediatr Dermatol. 2006;23:251–254
  141. Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Genevieve D, et al. Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet. 2004;13:2493–2503
  142. Lowry RB, Machin GA, Morgan K, Mayock D, Marx L. Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: a fatal syndrome in Hutterite and Mennonite kindreds. Am J Med Genet. 1985;22:531–543
  143. Antoine T. Ein Fall von allgemeiner, angeborener Haut-atrophie. Monatsschr Geburtsh Gynaekol. 1929;81:276–283
  144. Manning MA, Cunniff CM, Colby CE, El-Sayed YY, Hoyme HE. Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review. Am J Med Genet A. 2004;125A:240–249
  145. Happle R, Koch H, Lenz W. The CHILD syndrome: congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Eur J Pediatr. 1980;134:27–33
  146. Konig A, Happle R, Bornholdt D, Engel H, Grzeschik KH. Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet. 2000;90:339–346
  147. Happle R, Matthiass HH, Macher E. Sex-linked chondrodysplasia punctata?. Clin Genet. 1977;11:73–76
  148. Darier J. Psorospermose folliculaire végétante. Ann Dermatol Syph. 1889;10:597–612
  149. White J. A case of keratosis (ichthyosis) follicularis. J Cutan Dis. 1889;7:201–209
  150. Hailey H, Hailey H. Familial benign chronic pemphigus. Arch Dermatol Syph. 1939;39:679–685
  151. Sakuntabhai A, Ruiz-Perez V, Carter S, Jacobsen N, Burge S, Monk S, et al. Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Nat Genet. 1999;21:271–277
  152. Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, et al. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nat Genet. 2000;24:61–65
  153. Madison KC. Barrier function of the skin: “la raison d'etre” of the epidermis. J Invest Dermatol. 2003;121:231–241
  154. Attenborough D. Life on earth. Boston: Little Brown; 1980;
  155. Blank IH. Further observations on factors which influence the water content of the stratum corneum. J Invest Dermatol. 1953;21:259–271
  156. Winsor T, Burge GE. Differential roles of layers of human epigastric skin on diffusion rate of water. Arch Intern Med. 1944;74:428–436
  157. Elias PM. Epidermal lipids, barrier function, and desquamation. J Invest Dermatol. 1983;80:44-49s
  158. Williams ML. The ichthyoses–pathogenesis and prenatal diagnosis: a review of recent advances. Pediatr Dermatol. 1983;1:1–24
  159. Demerjian M, Crumrine DA, Milstone LM, Williams ML, Elias PM. Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). J Invest Dermatol. 2006;126:2032–2038
  160. Elias PM, Schmuth M, Uchida Y, Rice RH, Behne M, Crumrine D, et al. Basis for the permeability barrier abnormality in lamellar ichthyosis. Exp Dermatol. 2002;11:248–256
  161. Elias PM, Crumrine D, Rassner U, Hachem JP, Menon GK, Man W, et al. Basis for abnormal desquamation and permeability barrier dysfunction in RXLI. J Invest Dermatol. 2004;122:314–319
  162. Hachem JP, Houben E, Crumrine D, Man MQ, Schurer N, Roelandt T, et al. Serine protease signaling of epidermal permeability barrier homeostasis. J Invest Dermatol. 2006;126:2074–2086
  163. Holleran WM, Ginns EI, Menon GK, Grundmann JU, Fartasch M, McKinney CE, et al. Consequences of beta-glucocerebrosidase deficiency in epidermis: ultrastructure and permeability barrier alterations in Gaucher disease. J Clin Invest. 1994;93:1756–1764
  164. Schmuth M, Fluhr JW, Crumrine DC, Uchida Y, Hachem JP, Behne M, et al. Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). J Invest Dermatol. 2004;122:909–922
  165. Descargues P, Deraison C, Bonnart C, Kreft M, Kishibe M, Ishida-Yamamoto A, et al. Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity. Nat Genet. 2005;37:56–65
  166. Yanagi T, Akiyama M, Nishihara H, Sakai K, Nishie W, Tanaka S, et al. Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects. Hum Mol Genet. 2008;17:3075–3083
  167. Matsuki M, Yamashita F, Ishida-Yamamoto A, Yamada K, Kinoshita C, Fushiki S, et al. Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte transglutaminase). Proc Natl Acad Sci U S A. 1998;95:1044–1049
  168. Epp N, Furstenberger G, Muller K, de Juanes S, Leitges M, Hausser I, et al. 12R-lipoxygenase deficiency disrupts epidermal barrier function. J Cell Biol. 2007;177:173–182
  169. Furuse M, Hata M, Furuse K, Yoshida Y, Haratake A, Sugitani Y, et al. Claudin-based tight junctions are crucial for the mammalian epidermal barrier: a lesson from claudin-1-deficient mice. J Cell Biol. 2002;156:1099–1111
  170. Feingold KR. The regulation of epidermal lipid synthesis by permeability barrier requirements. Crit Rev Ther Drug Carrier Syst. 1991;8:193–210
  171. Ghadially R, Brown BE, Sequeira-Martin SM, Feingold KR, Elias PM. The aged epidermal permeability barrier: structural, functional, and lipid biochemical abnormalities in humans and a senescent murine model. J Clin Invest. 1995;95:2281–2290
  172. Williams ML, Elias PM. From basket weave to barrier: unifying concepts for the pathogenesis of the disorders of cornification. Arch Dermatol. 1993;129:626–629
  173. Juanes SD, Epp N, Latzko S, Neumann M, Furstenberger G, Hausser I, et al. Development of an ichthyosiform phenotype in Alox12b-deficient mouse skin transplants. J Invest Dermatol. 2009;129:1429–1436
  174. Ballabio A, Parenti G, Carrozzo R, Sebastio G, Andria G, Buckle V, et al. Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. Proc Natl Acad Sci U S A. 1987;84:4519–4523
  175. Chipev CC, Korge BP, Markova N, Bale SJ, DiGiovanna JJ, Compton JG, et al. A leucine–proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. Cell. 1992;70:821–828
  176. Compton JG, DiGiovanna JJ, Santucci SK, Kearns KS, Amos CI, Abangan DL, et al. Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q. Nat Genet. 1992;1:301–305
  177. Grzeschik KH, Bornholdt D, Oeffner F, Konig A, del Carmen BM, Enders H, et al. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nat Genet. 2007;39:833–835
  178. Jansen GA, Ofman R, Ferdinandusse S, Ijlst L, Muijsers AO, Skjeldal OH, et al. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nat Genet. 1997;17:190–193
  179. Jansen GA, Waterham HR, Wanders RJ. Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). Hum Mutat. 2004;23:209–218
  180. Oeffner F, Fischer G, Happle R, Konig A, Betz RC, Bornholdt D, et al. IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response. Am J Hum Genet. 2009;84:459–467
  181. Rothnagel JA, Dominey AM, Dempsey LD, Longley MA, Greenhalgh DA, Gagne TA, et al. Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science. 1992;257:1128–1130
  182. Rothnagel JA, Traupe H, Wojcik S, Huber M, Hohl D, Pittelkow MR, et al. Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. Nat Genet. 1994;7:485–490
  183. Smith FJ, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Zhao Y, et al. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet. 2006;38:337–342
  184. Stefanini M, Lagomarsini P, Giliani S, Nardo T, Botta E, Peserico A, et al. Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy. Carcinogenesis. 1993;14:1101–1105
  185. Takayama K, Salazar EP, Broughton BC, Lehmann AR, Sarasin A, Thompson LH, et al. Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy. Am J Hum Genet. 1996;58:263–270
  186. Tsuji S, Choudary PV, Martin BM, Stubblefield BK, Mayor JA, Barranger JA, et al. A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. N Engl J Med. 1987;316:570–575
  187. Mizrachi-Koren M, Shemer S, Morgan M, Indelman M, Khamaysi Z, Petronius D, et al. Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations. J Am Acad Dermatol. 2006;55:393–401
  188. Lugassy J, Hennies HC, Indelman M, Khamaysi Z, Bergman R, Sprecher E. Rapid detection of homozygous mutations in congenital recessive ichthyosis. Arch Dermatol Res. 2008;300:81–85
  189. Roop D. Defects in the barrier. Science. 1995;267:474–475
  190. Bitoun E, Bodemer C, Amiel J, de Prost Y, Stoll C, Calvas P, et al. Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis. Prenat Diagn. 2002;22:121–126
  191. Muller FB, Hausser I, Berg D, Casper C, Maiwald R, Jung A, et al. Genetic analysis of a severe case of Netherton syndrome and application for prenatal testing. Br J Dermatol. 2002;146:495–499
  192. Sprecher E, Chavanas S, DiGiovanna JJ, Amin S, Nielsen K, Prendiville JS, et al. The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis. J Invest Dermatol. 2001;117:179–187
  193. Rothnagel JA, Longley MA, Holder RA, Kuster W, Roop DR. Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing. J Invest Dermatol. 1994;102:13–16
  194. Rothnagel JA, Lin MT, Longley MA, Holder RA, Hazen PG, Levy ML, et al. Prenatal diagnosis for keratin mutations to exclude transmission of epidermolytic hyperkeratosis. Prenat Diagn. 1998;18:826–830
  195. Tsuji-Abe Y, Akiyama M, Nakamura H, Takizawa Y, Sawamura D, Matsunaga K, et al. DNA-based prenatal exclusion of bullous congenital ichthyosiform erythroderma at the early stage, 10 to 11 weeks' of pregnancy, in two consequent siblings. J Am Acad Dermatol. 2004;51:1008–1011
  196. Sillen A, Holmgren G, Wadelius C. First prenatal diagnosis by mutation analysis in a family with Sjögren-Larsson syndrome. Prenat Diagn. 1997;17:1147–1149
  197. Yanagi T, Akiyama M, Sakai K, Nagasaki A, Ozawa N, Kosaki R, et al. DNA-based prenatal exclusion of harlequin ichthyosis. J Am Acad Dermatol. 2008;58:653–656
  198. Akiyama M, Titeux M, Sakai K, McMillan JR, Tonasso L, Calvas P, et al. DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences. J Invest Dermatol. 2007;127:568–573
  199. Anton-Lamprecht I. The skin. In:  Papdimitriou JM,  Henderon DW,  Sagnolo DV editor. Diagnostic ultrastructure of non-neoplastic diseases: diagnostic ultrastructure of non-neoplastic diseases. Edinburgh: Churchill-Livingstone; 1992;p. 459–550
  200. Anton-Lamprecht I. Ultrastructural identification of basic abnormalities as clues to genetic disorders of the epidermis. J Invest Dermatol. 1994;103:6-12S
  201. Anton-Lamprecht I, Schnyder UW. Ultrastructural distinction of autosomal dominant ichthyosis vulgaris and X-linked recessive ichthyosis. Clin Genet. 1976;10:245–247
  202. Oji V, Seller N, Sandilands A, Gruber R, Gerss J, Huffmeier U, et al. Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup. Br J Dermatol. 2009;160:771–781
  203. Dale BA, Holbrook KA, Fleckman P, Kimball JR, Brumbaugh S, Sybert VP. 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
  204. Akiyama M, Sakai K, Sato T, McMillan JR, Goto M, Sawamura D, et al. Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis. Dermatology. 2007;215:155–159
  205. Ishida-Yamamoto A. Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin. J Dermatol Sci. 2003;31:3–8
  206. Arnold ML, Anton-Lamprecht I, Melz-Rothfuss B, Hartschuh W. Ichthyosis congenita type III: clinical and ultrastructural characteristics and distinction within the heterogeneous ichthyosis congenita group. Arch Dermatol Res. 1988;280:268–278
  207. Brusasco A, Gelmetti C, Tadini G, Caputo R. Ichthyosis congenita type IV: a new case resembling diffuse cutaneous mastocytosis. Br J Dermatol. 1997;136:377–379
  208. Niemi KM, Kanerva L, Kuokkanen K. Recessive ichthyosis congenita type II. Arch Dermatol Res. 1991;283:211–218
  209. Niemi KM, Kuokkanen K, Kanerva L, Ignatius J. Recessive ichthyosis congenita type IV. Am J Dermatopathol. 1993;15:224–228
  210. Niemi KM, Kanerva L, Kuokkanen K, Ignatius J. Clinical, light and electron microscopic features of recessive congenital ichthyosis type I. Br J Dermatol. 1994;130:626–633
  211. Pigg M, Gedde-Dahl T, Cox D, Hausser I, Anton-Lamprecht I, Dahl N. Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway. Eur J Hum Genet. 1998;6:589–596
  212. Descargues P, Deraison C, Prost C, Fraitag S, Mazereeuw-Hautier J, D'Alessio M, et al. Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome. J Invest Dermatol. 2006;126:1622–1632
  213. Wells RS, Kerr CB. The histology of ichthyosis. J Invest Dermatol. 1966;46:530–535
  214. Fleckman P, Brumbaugh S. Absence of the granular layer and keratohyalin define a morphologically distinct subset of individuals with ichthyosis vulgaris. Exp Dermatol. 2002;11:327–336
  215. Bergman R, Khamaysi Z, Sprecher E. A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma. Am J Dermatopathol. 2008;30:101–105
  216. Ross R, DiGiovanna JJ, Capaldi L, Argenyi Z, Fleckman P, Robinson-Bostom L. Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the national registry for ichthyosis and related skin disorders. J Am Acad Dermatol. 2008;59:86–90
  217. Sperling LC, DiGiovanna JJ. Curly“ wood and tiger tails: an explanation for light and dark banding with polarization in trichothiodystrophy. Arch Dermatol. 2003;139:1189–1192
  218. Tay CH. Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation: a new recessive disorder. Arch Dermatol. 1971;104:4–13
  219. Schlucker S, Liang C, Strehle KR, DiGiovanna JJ, Kraemer KH, Levin IW. Conformational differences in protein disulfide linkages between normal hair and hair from subjects with trichothiodystrophy: a quantitative analysis by Raman microspectroscopy. Biopolymers. 2006;82:615–622
  220. Liang C, Morris A, Schlucker S, Imoto K, Price VH, Menefee E, et al. Structural and molecular hair abnormalities in trichothiodystrophy. J Invest Dermatol. 2006;126:2210–2216
  221. Gruber R, Janecke AR, Fauth C, Utermann G, Fritsch PO, Schmuth M. Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris. Eur J Hum Genet. 2007;15:179–184
  222. Bitoun E, Micheloni A, Lamant L, Bonnart C, Tartaglia-Polcini A, Cobbold C, et al. LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome. Hum Mol Genet. 2003;12:2417–2430
  223. Ong C, O'Toole EA, Ghali L, Malone M, Smith VV, Callard R, et al. LEKTI demonstrable by immunohistochemistry of the skin: a potential diagnostic skin test for Netherton syndrome. Br J Dermatol. 2004;151:1253–1257
  224. Raghunath M, Tontsidou L, Oji V, Aufenvenne K, Schurmeyer-Horst F, Jayakumar A, et al. SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases. J Invest Dermatol. 2004;123:474–483
  225. Raghunath M, Hennies HC, Velten F, Wiebe V, Steinert PM, Reis A, et al. A novel in situ method for the detection of deficient transglutaminase activity in the skin. Arch Dermatol Res. 1998;290:621–627
  226. Hohl D, Aeschlimann D, Huber M. In vitro and rapid in situ transglutaminase assays for congenital ichthyoses–a comparative study. J Invest Dermatol. 1998;110:268–271
  227. Jeon S, Djian P, Green H. Inability of keratinocytes lacking their specific transglutaminase to form cross-linked envelopes: absence of envelopes as a simple diagnostic test for lamellar ichthyosis. Proc Natl Acad Sci U S A. 1998;95:687–690
  228. Has C, Seedorf U, Kannenberg F, Bruckner-Tuderman L, Folkers E, Folster-Holst R, et al. Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hünermann-Happle syndrome. J Invest Dermatol. 2002;118:851–858
  229. Traupe H, Burgdorf WHC. Treatment of ichthyosis–there is always something you can do! In Memoriam: Wolfgang Küster. J Am Acad Dermatol. 2007;57:542–547
  230. Shwayder T. Disorders of keratinization: diagnosis and management. Am J Clin Dermatol. 2004;5:17–29
  231. Kuster W. Ichthyoses: suggestions for an improved therapy. Dtsch Arztebl. 2006;103:1484–1489
  232. Oji V, Traupe H. Ichthyosis: clinical manifestations and practical treatment options. Am J Clin Dermatol. 2009;10:351–364
  233. Yamamura S, Kinoshita Y, Kitamura N, Kawai S, Kobayashi Y. Neonatal salicylate poisoning during the treatment of a collodion baby. Clin Pediatr. 2002;41:451–452
  234. Moskowitz DG, Fowler AJ, Heyman MB, Cohen SP, Crumrine D, Elias PM, et al. Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure. J Pediatr. 2004;145:82–92
  235. Fowler AJ, Moskowitz DG, Wong A, Cohen SP, Williams ML, Heyman MB. Nutritional status and gastrointestinal structure and function in children with ichthyosis and growth failure. J Pediatr Gastroenterol Nutr. 2004;38:164–169

 The accommodation and travel costs of the participants and the conference rooms of the Ichthyosis Consensus Conference were sponsored by the Laboratories Pierre Fabre, Castres, France. Moreover, our work is supported by the Network for Ichthyoses and Related Keratinization Disorders (Bundesministerium für Bildung und Forschung, GFGM01143901), the Foundation for Ichthyosis and Related Skin Types (United States), and the Ichthyosis Patient Organization of Germany (Selbsthilfe Ichthyose e. V.).

 Conflicts of interest: None declared.

PII: S0190-9622(09)01487-X

doi: 10.1016/j.jaad.2009.11.020

Journal of the American Academy of Dermatology
Volume 63, Issue 4 , Pages 607-641 , October 2010