Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2020, 164(4):357-365 | DOI: 10.5507/bp.2020.050

Types of congenital nonsyndromic ichthyoses

Blanka Pinkovaa, Hana Buckovaa, Romana Borskab, Lenka Fajkusovab
a Children's Dermatological Department of the Paediatric Clinic, Faculty of Medicine, Masaryk University and University Hospital Brno, Czech Republic
b Center of Molecular Biology and Gene Therapy IHOK University Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic Corresponding author: Blanka Pinkova, e-mail: b.pinkova@seznam.cz

Congenital ichthyoses are a very heterogeneous group of diseases manifested by dry, rough and scaling skin. In all forms of ichthyoses, the skin barrier is damaged to a certain degree. Congenital ichthyoses are caused by various gene mutations. Clinical manifestations of the individual types vary as the patient ages. Currently, the diagnosis of congenital ichthyoses is based on molecular analysis, which also allows a complete genetic counseling and genetic prevention. It is appropriate to refer the patients to specialized medical centers, where the cooperation of a neonatologist, a pediatric dermatologist, a geneticist and other specialists is ensured.

Keywords: ichthyosis, diagnostics, molecular analysis of DNA, therapy

Received: July 6, 2020; Revised: October 8, 2020; Accepted: October 12, 2020; Prepublished online: October 21, 2020; Published: December 15, 2020  Show citation

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Pinkova, B., Buckova, H., Borska, R., & Fajkusova, L. (2020). Types of congenital nonsyndromic ichthyoses. Biomedical papers, 164(4), 357-365. doi: 10.5507/bp.2020.050
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    References

    1. Akiyama M, Shimizu H. An update on molecular aspects of the non-syndromic ichthyoses. Exp Dermatol 2008,(17):371-82. Go to original source... Go to PubMed...
    2. Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, Coudiere P, DiGiovanna JJ, Elias P, Fischer J, Fleckman P, Gina M, Harper J, Hashimoto T, Hausser I, Hennies HC, Hohl D, Hovnanian A, Ishida-Yamamoto A, Jacyk WK, Leachman S, Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu H, Sprecher E, Van Steensel M, Taïeb A, Toro JR, Vabres P, Vahlquist A, Williams M, Traupe H. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol 2010;63(4):607-41.
    3. Oji V, Traupe, H. Ichthyoses: differential diagnosis and molecular genetics. Eur J Dermatol 2006,16:349-59.
    4. Elias PM, Williams ML, Crumrine D, Schmuth M. Ichthyoses, clinical, biochemical, pathogenic and diagnostic assessment. Curr Probl Dermatol 2010;39:358-64. Go to original source...
    5. Candi E, Schmidt R, Melino G. The cornified envelope: a model of cell death in the skin. Nat Rev Moll Cell Biol 2005;6(4):328-40. Go to original source... Go to PubMed...
    6. Vahlquist A, Fischer J, Torma H. Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology. Am Clin J Dermatol 2018;19(1):51-66. Go to original source... Go to PubMed...
    7. Paige DG, Morse Fisher N, Harper JI. Quantification of stratum corneum ceramides and lipid envelope ceramides in the hereditary ichthyoses. Br J Dermatol 1994;131(1):23-7. doi: 10.1111/j.1365-2133.1994.tb08452.x. Go to original source... Go to PubMed...
    8. Di Giovanna JJ, Bale SJ. Clinical heterogenity in epidermolytic hyperkeratosis. AMA Arch Derm 1994;130:1026-35. Go to original source... Go to PubMed...
    9. Metzker ML. Sequencing technologies-the next generation. Nat Rev Genet 2010;11(1):31-46. doi: 10.1038/nrg2626 Go to original source... Go to PubMed...
    10. Ansorge WJ. Next-generation DNA sequencing techniques. N Biotechnol 2009;25(4):195-203. doi: 10.1016/j.nbt.2008.12.009 Go to original source... Go to PubMed...
    11. Tucker T, Marra M, Friedman J. Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine. Am Hum J Genet 2009;85(2):142-54 doi:10.1016/j.ajhg.2009.06.022 Go to original source... Go to PubMed...
    12. Mazereeuw Hautier J, Hernández Martín A, O'Toole EA, Bygum A, Amaro C, Aldwin M, Audouze A, Bodemer C, Diociaiuti A, Bourrat E. Management of congenital ichthyoses: European guidelines of care, part two. Br J Dermatol 2019;180(3):484-95. doi: 10.1111/bjd.16882 Go to original source... Go to PubMed...
    13. Mazereeuw Hautier J, Hernández Martín A, O'Toole EA, Bygum A, Amaro C, Aldwin M, Audouze A, Bodemer C, Diociaiuti A, Bourrat E. Management of congenital ichthyoses: European guidelines of care, part one, Br J Dermatol 2019;180(2):272-81. doi: 10.1111/bjd.17203 Go to original source... Go to PubMed...
    14. Krug M, Oji V, Traupe H, Berneburg M. Ichthyosen - Teil 1: Differentialdiagnose Vulgärer Ichthyosen und therapeutische Erwägungen. J Dtsch Dermatol Ges 2009;7:511-20. Go to original source... Go to PubMed...
    15. Weidinger S, O´Sullivan M, Illig T, Barnett H, Depner M, Rodriguez E, Ruether A, Klopp N, Vogelberg C, Weiland SK. Filaggrin mutation, atopic eczema, hay fever and asthma in children. J Investig Allergol Clin Immunol 2009;121:1203-9. Go to original source... Go to PubMed...
    16. Preil ML, Traupe H. Diagnostik und Therapie der Ichthyosen. AWMF- Leitlinie, Nr.13/043 (Stand: 09/2008).
    17. Fernandes NF, Janinner CK, Schwarzt RA. X-linked ichthyosis: an occulocutaneous genodermatosis. J Am Acad Dermatol 2010;62:480-5. Go to original source... Go to PubMed...
    18. Vahlquist A, Ganemo A, Virtanen M. Congenital ichthyoses: an overview of current and emerging therapies. Acta Derm Venereol 2008;88:4-14. Go to original source... Go to PubMed...
    19. Krieg P, Fürstenberger G. The role of lipoxygenases in epidermis. Biochem Biophys Acta 2014;1841(3):390-400. Go to original source... Go to PubMed...
    20. Traupe H. Rapid categorization of mild types of autosomal recessive congenital ichthyosis undergoing a phenotypic shift: should it be called "pleomorphic ichthyosis" or "congenital ichthyosis with mild scaling (CIMS)"? Acta Derm Venereol 2010;90(5):450-3. doi: 10.2340/00015555-0940 Go to original source... Go to PubMed...
    21. Rodríguez-Pazos L, Ginarte M, Fachal L, Toribio J, Carracedo A, Vega A. Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects. Br J Dermatol 2011;165(4):906-11. doi: 10.1111/j.1365-2133.2011.10454 Go to original source...
    22. Eckl KM, de Juanes S, Kurtenbach J, Nätebus M, Lugassy J, Oji V, Traupe H, Preil ML, Martínez F, Smolle J, Harel A, Krieg P, Sprecher E, Hennies HC. 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(6):1421-8. doi: 10.1038/jid.2008.409 Go to original source... Go to PubMed...
    23. Höger H. Kindermatologie- differenzialdiagnostik und Therapie bei Kindern und Jugendlichen, 3. vollständing überarbeitete und erweiterte Auflage 2011, ISBN 978-3-7945-2730-4
    24. Eckl KM, Krieg P, Küster W, Traupe H, André F, Wittstruck N, Fürstenberger G, Hennies HC. Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. Hum Mutat 2005;26(4):351-61. Go to original source... Go to PubMed...
    25. Michelle A, Norton PS. Practical Events in the Management of a Collodion Baby, JAMA Dermatol 2015;151(9):1031-32. Go to original source... Go to PubMed...
    26. Vahlquist A, Bygum E, Ganemo A, Fischer J. Genotypic and Clinical Spectrum of Self-Improving Collodion Ichthyosis: ALOX12B, ALOXE3, and TGM1 Mutations in Scandinavian Patients. J Investig Dermatol Symp Proc 2010;(130)2:438-43. Go to original source... Go to PubMed...
    27. Prado R, Ellis L, Gamble, R. Collodion baby: an update, with focus on practical management. J Am Acad Dermatol 2012;67:1362-74. Go to original source... Go to PubMed...
    28. Van Gysel D, Lijnen RL, Moekti SS, Oranje, AP. Collodion baby: a follow -up study of 17 cases. J Eur Acad Dermatol Venereol 2002;16(5):472-5. Go to original source... Go to PubMed...
    29. Gustavo A, Gomez R, Weinstein, M. Development of disease severity score for newborns with collodion membrane. J Am Acad Dermatol 2014;70(3):506-11. Go to original source... Go to PubMed...
    30. Mazereew-Hautier J, Aufenvenne, K, Deraison C, Oji, V. Acral-self healing collodion baby: report of a new clinical phenotype caused bz novl TGM1 mutation. Br J Dermatol 2009;161(2):456-63. Go to original source... Go to PubMed...
    31. Akcakus M, Gunes T, Kurtoglu S, Ozturk, A. Collodion baby associated with asymmetric crying faces: a case report. Pediatr Dermatol 2003;20(2):134-6. doi: 10.1046/j.1525-1470.2003.20208.x Go to original source... Go to PubMed...
    32. Taieb A, Labreze C. Collodion baby: what´s new. J Am Acad Dermatol 2002;16(5):436-7. doi: 10.1046/j.1468-3083.2002.00478.x Go to original source... Go to PubMed...
    33. Menke TB, Moschner S, Joachimmeyer E. Congenital ectropion in ichthyosis congenita mitis and gravis. Ophthalmologe 2006;103:410-15. Go to original source... Go to PubMed...
    34. Hackett BC, Fitzgerald D, Watson RM, Hol FA, Irvine AD. Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis. Br J Dermatol 2010;162(2):448-51. doi: 10.1111/j.1365-2133.2009.09537 Go to original source...
    35. Aufenvenne K, Oji V, Walker T, Becker-Pauly C, Hennies HC, Stöcker W, Traupe H. Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions. J Invest Dermatol 2009;129(8):2068-71. doi: 10.1038/jid.2009.18 Go to original source... Go to PubMed...
    36. Farasat S, Wei MH, Herman M, Liewehr DJ, Steinberg SM, Bale SJ, Fleckman P, Toro JR. Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. J Med Genet 2009;46(2):103-11. doi: 10.1136/jmg.2008.060905 Go to original source... Go to PubMed...
    37. Lefèvre C, Bouadjar B, Ferrand V, Tadini G, Mégarbané A, Lathrop M, Prud'homme JF, Fischer J. Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. Hum Mol Genet 2006;15(5):767-76. Go to original source... Go to PubMed...
    38. Hennies, H, Küster, W, Wiebe, V, Krebsová, A. Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis. J Invest Dermatol 2010;130(2):438-43. doi: 10.1038/jid.2009.346 Go to original source... Go to PubMed...
    39. Traupe, H. The Ichthyoses - A Guide to Clinical Diagnosis, Genetic Counseling and Therapy. Springer Verlag, Heidelberg 1989, ISBN 3-540-19222-0
    40. Krebsová A, Küster W, Lestringant GG, Schulze B, Hinz B, Frossard PM, Reis A, Hennies HC. Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity. Am J Hum Genet 1998;62(5):1052-61. doi: 10.1086/301818 Go to original source... Go to PubMed...
    41. 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(2):81-5. Go to original source... Go to PubMed...
    42. Lefèvre C, Bouadjar B, Karaduman A. Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. Hum Mol Genet 2005;13(20):2473-82. doi: 10.1093/hmg/ddh263. PMID 15317751 Go to original source... Go to PubMed...
    43. Chiaretti A, Schembri Wismayer D, Tortorolo L. Salicylate intoxication using a skin ointment. Acta Paediatr 1997;86:330-1. Go to original source... Go to PubMed...
    44. Yamamura S, Kinoshita Y, Kitamura N Neonatal salicylate poisoning during the treatment of a collodion baby. Clin Pediatr 2002;41:451-2. Go to original source... Go to PubMed...
    45. Lacour, M, Mehta Nikhar, B, Atherton, D, Harper, JI. An appraisal of acitretin therapy in children with inherited disorders of keratinization. Br J Dermatol 1996;134:1023-9. Go to original source...
    46. Ormerod, AD, Campalani, E, Goodfield, MI. Clinical standards Unit British Association of dermatologist guidelines on efficacy and use of acitretin in dermatology. Br J Dermatol 2010;162:952-63. Go to original source... Go to PubMed...
    47. Brecher, AR, Orlow, SI. Oral retinoid therapy for dermatologic conditions in children and adolescents. J Am Acad Dermatol 2003;49:171-82. Go to original source... Go to PubMed...
    48. Rajpopat S, Moss C, Mellerio J. Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. Arch Dermatol 2011;147:681-6. Go to original source... Go to PubMed...
    49. Pinková B, Borská R, Fajkusová L, Dostálková D. Gastroenteritida u pacientky s Harlequin ichtyózou. Pediatr pro praxi 2019;20(4):248-50. Go to original source...
    50. Harvey HB, Shaw MG, Morrell DS. Perinatal management of harlequin ichthyosis: a case report and literature review. J Perinatol 2010;30:66-72. Go to original source... Go to PubMed...
    51. Hotz A. Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT 10 mutations in Keratinopathic Ichthyosis. Acta Derm Venereol 2016: 96(4):473-8. doi: 10.2340/00015555-2299 Go to original source... Go to PubMed...
    52. Liu RH, Becker B, Gunkel J. Rapid improvement in digital ischemia and acral contracture in a collodion baby treated with topical tazarotene. J Drugs Dermatol 2010; 9:713-16. Go to PubMed...
    53. Boesen ML, Bygum A, Hertz JM, Zachariassen G. Newborn with severe epidermolysis bullosa: to treat or not to treat? BMJ Case Rep 2016; 2016:bcr2016214727. doi: 10.1136/bcr-2016-214727 Go to original source... Go to PubMed...
    54. Gonzalez ME. Evaluation and treatment of the newborn with epidermolysis bullosa. Semin Perinatol 2013;37:32-9. Go to original source... Go to PubMed...
    55. Ott H, Guthmann F, Ludwikowski B. Interdisciplinary care of newborns with epidermolysis bullosa and severe congenital ichthyoses. Hautarzt 2015;66:236-44. Go to original source... Go to PubMed...
    56. Haneda T, Imai Y, Uchiyama R. Activation of molecular signatures for antimicrobial and innate defense responses in skin with transglutaminase 1 deficiency. PLoS ONE 2016;11:e0159673. Go to original source... Go to PubMed...
    57. Graber CJ, Shane AL, Weintrub P. Clonality of Staphylococcus aureus colonization over time in attendees of a camp for children with chronic dermatoses. Pediatr Dermatol 2011;28:519-23. Go to original source... Go to PubMed...
    58. Avril M, Riley C. Management of epidermolytic ichthyosis in the newborn. Neonatal Netw 2016;35:19-28. Go to original source... Go to PubMed...
    59. Kubo Y, Urano Y, Matsuda, R. Ichthyosis Hystrix, Curth-Macklin Type: A New Sporadic Case With a Novel Mutation of Keratin 1 Arch Dermatol 2011;147(8):999-1001. doi:10.1001/archdermatol.2011.217 Go to original source... Go to PubMed...
    60. Cervantes T, Pham C, Browning JC. Superficial epidermolytic ichthyosis: a report of two families Pedietr Dermatol 2013;30(4):469-72. doi: 10.1111/j.1525-1470.2012.01750 Go to original source...
    61. Guerra L, Diociaiuti A, El Hachem M, Castiglia D, Zambruno G. Ichthyosis with confetti: clinics, molecular genetics and management. Orphanet J Rare Dis 2015;10:115. doi: 10.1186/s13023-015-0336-4. Go to original source... Go to PubMed...
    62. Suzuki S, Nomura T, Miyauchi T, Takeda M. Revertant Mosaicism in Ichthyosis with Confetti Caused by a Frameshift Mutation in KRT1. J Investig Dermatol Symp Proc 2016;136(10):2093-95. doi: 10.1016/j.jid.2016.05.109 Go to original source... Go to PubMed...
    63. Poulton, C, Gration, D. Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab. Pediatr Dermatol 2019;36(6):1002-3. doi: 10.1111/pde.13995 Go to original source... Go to PubMed...
    64. Paller A, Mancini A. Hurwitz Clinical Pediatric Dermatology 4 th Revised edition - A Textbook of Skin Disorders of Childhood and Adolescence, published Sep 2011, ISBN 1437704123 Go to original source...

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