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Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities

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Abstract

Syndromic ichthyosis is rare inherited disorders of cornification with varied disease complications. This disorder appears in seventeen subtypes associated with severe systematic manifestations along with medical, cosmetic and social problems. Syndromic ichthyosis with prominent hair abnormalities covers five major subtypes: Netherton syndrome, trichothiodystrophy, ichthyosis hypotrichosis syndrome, ichthyosis hypotrichosis sclerosing cholangitis and ichthyosis follicularis atrichia photophobia syndrome. These syndromes mostly prevail in high consanguinity states, with distinctive clinical features. The known pathogenic molecules involved in ichthyosis syndromes with prominent hair abnormalities include SPINK5, ERCC2, ERCC3, GTF2H5, MPLKIP, ST14, CLDN1 and MBTPS2. Despite underlying genetic origin, most of the health professionals solely rely on phenotypic expression of these disorders that leads to improper management of patients, hence making these patients living an orphanage life. After dermal features, association of other systems such as nervous system, skeletal system, hair abnormalities or liver problems may sometimes give clues for diagnosis but still leaving place for molecular screening for efficient diagnosis. In this paper, we have presented a review of ichthyosis syndrome with prominent hair abnormalities, with special emphasis on their updated genetic consequences and disease management. Additionally, we aim to update health professionals about the practice of molecular screening in ichthyosis syndromes for appropriate diagnosis and treatment.

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References

  1. Al-Zayir AA, Al-Amro Al-Alakloby OM (2006) Clinico-epidemiological features of primary hereditary ichthyoses in the Eastern province of Saudi Arabia. Int J Dermatol 45(3):257–264

    Article  PubMed  Google Scholar 

  2. Alef T, Torres S, Hausser I, Metze D, Türsen Ü, Lestringant GG, Hennies HC (2009) Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing. J Invest Dermatol 129(4):862–869

    Article  CAS  PubMed  Google Scholar 

  3. Araújo C, Gonçalves-Rocha M, Resende C, Vieira AP, Brito C (2015) A case of IFAP syndrome with severe atopic dermatitis. Case Rep Med 2015:450937

    PubMed  PubMed Central  Google Scholar 

  4. Avrahami L, Maas S, Pasmanik-Chor M, Rainshtein L, Magal N, Smitt J, Van Marle J, Shohat M, Basel-Vanagaite L (2008) Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype. Clin Genet 74:47–53

    Article  CAS  PubMed  Google Scholar 

  5. Baala L, Hadj-Rabia S, Hamel-Teillac D, Hadchouel M, Prost C, Leal SM, Jacquemin E, Sefiani A, de Prost Y, Courtois G (2002) Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27–q28. J Invest Dermatol 119(1):70–76

    Article  CAS  PubMed  Google Scholar 

  6. Baden H, Jackson C, Weiss L, Jimbow K, Lee L, Kubilus J, Gold R (1976) The physicochemical properties of hair in the BIDS syndrome. Am J Hum Genet 28:514

    CAS  PubMed  PubMed Central  Google Scholar 

  7. Basel-Vanagaite L, Attia R, Ishida-Yamamoto A, Rainshtein L, Amitai DB, Lurie R, Pasmanik-Chor M, Indelman M, Zvulunov A, Saban S (2007) Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. Am J Hum Genet 80:467–477

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Bitoun E, Chavanas S, Irvine AD, Lonie L, Bodemer C, Paradisi M, Hamel-Teillac D, Ansai S, Mitsuhashi Y, Taieb A, de Prost Y, Zambruno G, Harper JI, Hovnanian A (2002) Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol 118:352–361. doi:10.1046/j.1523-1747.2002.01603.x

    Article  CAS  PubMed  Google Scholar 

  9. Blomquist H, Bäck O, Fagerlund M, Holmgren G, Stecksén-blicks C (1991) Tay or IBIDS syndrome: a case with growth and mental retardation, congenital ichthyosis and brittle hair. Acta Paediatr 80(12):1241–1245

    Article  CAS  Google Scholar 

  10. Bornholdt D, Atkinson TP, Bouadjar B, Catteau B, Cox H, Silva D, Fischer J, Gunasekera CN, Hadj-Rabia S, Happle R (2013) Genotype–Phenotype correlations emerging from the identification of missense mutations in MBTPS2. Hum Mutat 34:587–594

    CAS  PubMed  Google Scholar 

  11. Brusasco A, Restano L, Cambiaghi S, Tadini G (1997) The typical ‘tiger tail’ pattern of the hair shaft in trichothiodystrophy may not be evident at birth. Arch Dermatol 133:249

    CAS  PubMed  Google Scholar 

  12. Chavanas S, Bodemer C, Rochat A, Hamel-Teillac D, Ali M, Irvine AD, Bonafe JL, Wilkinson J, Taieb A, Barrandon Y, Harper JI, de Prost Y, Hovnanian A (2000) Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet 25:141–142. doi:10.1038/75977

    Article  CAS  PubMed  Google Scholar 

  13. Chavanas S, Garner C, Bodemer C, Ali M, Hamel-Teillac D, Wilkinson J, Bonafé J-L, Paradisi M, Kelsell DP, S-i Ansai (2000) Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping. Am J Hum Genet 66:914–921

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. Chen Y-W, Wang J-K, Chou F-P, Wu B-Y, Hsiao H-C, Chiu H, Xu Z, Baksh AN, Shi G, Kaul M (2014) Matriptase regulates proliferation and early, but not terminal, differentiation of human keratinocytes. J Invest Dermatol 134:405–414

    Article  CAS  PubMed  Google Scholar 

  15. Coin F, Marinoni J-C, Rodolfo C, Fribourg S, Pedrini AM, Egly J-M (1998) Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH. Nat Genet 20:184–188

    Article  CAS  PubMed  Google Scholar 

  16. Compe E, Malerba M, Soler L, Marescaux J, Borrelli E, Egly J-M (2007) Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH. Nat Neurosci 10:1414–1422

    Article  CAS  PubMed  Google Scholar 

  17. Crovato F (1983) Trichothiodystrophy—BIDS, IBIDS AND PIBIDS? Br J Dermatol 108:247

    Article  CAS  PubMed  Google Scholar 

  18. Dreyfus I, Chouquet C, Ezzedine K, Henner S, Chiavérini C, Maza A, Pascal S, Rodriguez L, Vabres P, Martin L (2014) Prevalence of inherited ichthyosis in France: a study using capture-recapture method. Orphanet J Rare Dis 9:1

    Article  PubMed  PubMed Central  Google Scholar 

  19. Faghri S, Tamura D, Kraemer KH, DiGiovanna JJ (2008) Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations. J Med Genet 45:609–621

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  20. Feldmeyer L, Huber M, Fellmann F, Beckmann J, Frenk E, Hohl D (2006) Confirmation of the origin of NISCH syndrome. Hum Mutat 27:408–410

    Article  CAS  PubMed  Google Scholar 

  21. Ferrari B, Morita L, Choate K, Hu RH (2017) Ichthyosis follicularis with alopecia and photophobia syndrome (IFAP): a case report. Dermatol Online J 23(2)

  22. Fontao L, Laffitte E, Briot A, Kaya G, Roux-Lombard P, Fraitag S, Hovnanian AA, Saurat JH (2011) Infliximab infusions for Netherton syndrome: sustained clinical improvement correlates with a reduction of thymic stromal lymphopoietin levels in the skin. J Invest Dermatol 131(9):1947–1950

    Article  CAS  PubMed  Google Scholar 

  23. Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, Van Der Spek P (2004) A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A. Nat Genet 36:714–719

    Article  CAS  PubMed  Google Scholar 

  24. Godic A, Dragos V (2004) Successful treatment of Netherton’s syndrome with topical calcipotriol. Eur J Dermatol EJD 14:115–117

    PubMed  Google Scholar 

  25. Hadj-Rabia S, Baala L, Vabres P, Hamel-Teillac D, Jacquemin E, Fabre M, Lyonnet S, de Prost Y, Munnich A, Hadchouel M (2004) Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease. Gastroenterology 127:1386–1390

    Article  CAS  PubMed  Google Scholar 

  26. Hamm H, Meinecke P, Traupe H (1991) Further delineation of the ichthyosis follicularis, atrichia, and photophobia syndrome. Eur J Pediatr 150:627–629

    Article  CAS  PubMed  Google Scholar 

  27. Happle R, van de Kerkhof PC, Traupe H (1987) Retinoids in disorders of keratinization: their use in adults. Dermatologica 175(Suppl 1):107–124

    Article  PubMed  Google Scholar 

  28. Hausser I, Anton-Lamprecht I (1996) Severe congenital generalized exfoliative erythroderma in newborns and infants: a possible sign of Netherton syndrome. Pediatr Dermatol 13(3):183–199. doi:10.1111/j.1525-1470.1996.tb01202.x

    Article  CAS  PubMed  Google Scholar 

  29. Hernández-Martín A, Garcia-Doval I, Aranegui B, de Unamuno P, Rodríguez-Pazos L, González-Enseñat M-A, Vicente A, Martín-Santiago A, Garcia-Bravo B, Feito M (2012) Prevalence of autosomal recessive congenital ichthyosis: a population-based study using the capture-recapture method in Spain. J Am Acad Dermatol 67:240–244

    Article  PubMed  Google Scholar 

  30. Hovnanian A (2013) Netherton syndrome: skin inflammation and allergy by loss of protease inhibition. Cell Tissue Res 351:289–300. doi:10.1007/s00441-013-1558-1

    Article  CAS  PubMed  Google Scholar 

  31. Itin PH, Pittelkow MR (1990) Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias. J Am Acad Dermatol 22:705–717

    Article  CAS  PubMed  Google Scholar 

  32. Itin PH, Sarasin A, Pittelkow MR (2001) Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes. J Am Acad Dermatol 44:891–924

    Article  CAS  PubMed  Google Scholar 

  33. Jorizzo J, Atherton D, Crounse R, Wells R (1982) Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBIDS syndrome). Br J Dermatol 106:705–710

    Article  CAS  PubMed  Google Scholar 

  34. Kaminska EC, Ortel B, Sharma V, Stein SL (2012) Narrowband UVB phototherapy as a novel treatment for Netherton syndrome. Photodermatol Photoimmunol Photomed 28(3):162–164

    Article  PubMed  Google Scholar 

  35. Keyvani K, Paulus W, Traupe H, Kiesewetter F, Cursiefen C, Huk W, Raab K, Orth U, Rauch A, Pfeiffer R (1998) Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man. Am J Med Genet A 78:371–377

    Article  CAS  Google Scholar 

  36. Khandpur S, Bhat R, Ramam M (2005) Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin. J Eur Acad Dermatol Venereol 19:759–762

    Article  CAS  PubMed  Google Scholar 

  37. Kirchmeier P, Sayar E, Hotz A, Hausser I, Islek A, Yilmaz A, Artan R, Fischer J (2014) Novel mutation in the CLDN1 gene in a Turkish family with neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome. Br J Dermatol 170:976–978

    Article  CAS  PubMed  Google Scholar 

  38. König A, Happle R (1999) Linear lesions reflecting lyonization in women heterozygous for IFAP syndrome (ichthyosis follicularis with atrichia and photophobia). Am J Med Genet A 85:365–368

    Article  Google Scholar 

  39. Krasagakis K, Ioannidou D, Stephanidou M, Manios A, Panayiotides J, Tosca A (2003) Early development of multiple epithelial neoplasms in Netherton syndrome. Dermatology 207(2):182–184

    Article  CAS  PubMed  Google Scholar 

  40. Laine J-P, Egly J-M (2006) When transcription and repair meet: a complex system. Trends Genet 22:430–436

    Article  CAS  PubMed  Google Scholar 

  41. Lestringant GG, Küster W, Frossard PM, Happle R (1998) Congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis: a new genodermatosis? Am J Med Genet 75:186–189

    Article  CAS  PubMed  Google Scholar 

  42. List K, Bugge TH, Szabo R (2006) Matriptase: potent proteolysis on the cell surface. Mol Med 12(1–3):1–7

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  43. List K, Haudenschild CC, Szabo R, Chen W, Wahl SM, Swaim W, Engelholm LH, Behrendt N, Bugge TH (2002) Matriptase/MT-SP1 is required for postnatal survival, epidermal barrier function, hair follicle development, and thymic homeostasis. Oncogene 21:3765

    Article  CAS  PubMed  Google Scholar 

  44. List K, Szabo R, Wertz PW, Segre J, Haudenschild CC, Kim S-Y, Bugge TH (2003) Loss of proteolytically processed filaggrin caused by epidermal deletion of matriptase/MT-SP1. J Cell Biol 163:901–910

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  45. Maatouk I, Moutran R, Tomb R (2012) Narrowband ultraviolet B phototherapy associated with improvement in Netherton syndrome. Clin Exp Dermatol 37(4):364–366. doi:10.1111/j.1365-2230.2011.04231.x

    Article  CAS  PubMed  Google Scholar 

  46. MacLeod JMH (1909) Three cases of ‘ichthyosis follicularis’ associated with baldness. Br J Dermatol 21:165–189

    Google Scholar 

  47. Mégarbané H, Mégarbané A (2011) Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome. Orphanet J Rare Dis 6:29

    Article  PubMed  PubMed Central  Google Scholar 

  48. Mevorah B, Frenk E, Brooke EM (1974) Ichthyosis linearis circumflexa Comèl. Dermatology 149:201–209

    Article  CAS  Google Scholar 

  49. Morice-Picard F, Cario-André M, Rezvani H, Lacombe D, Sarasin A, Taïeb A (2009) New clinico-genetic classification of trichothiodystrophy. Am J Med Genet A 149:2020–2030

    Article  Google Scholar 

  50. Morita K, Miyachi Y, Furuse M (2011) Tight junctions in epidermis: from barrier to keratinization. Eur J Dermatol EJD 21(1):12–17

    PubMed  Google Scholar 

  51. Nagtzaam IF, Van Geel M, Driessen A, Steijlen P, Van Steensel M (2010) Bile duct paucity is part of the neonatal ichthyosis-sclerosing cholangitis phenotype. Br J Dermatol 163:205–207

    CAS  PubMed  Google Scholar 

  52. Naiki M, Mizuno S, Yamada K, Yamada Y, Kimura R, Oshiro M, Okamoto N, Makita Y, Seishima M, Wakamatsu N (2012) MBTPS2 mutation causes BRESEK/BRESHECK syndrome. Am J Med Genet A 158:97–102

    Article  CAS  Google Scholar 

  53. Neri I, Virdi A, Tortora G, Baldassari S, Seri M, Patrizi A (2016) Novel p. Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature. J Dermatol Sci 81:63–66

    Article  CAS  PubMed  Google Scholar 

  54. Netherton EW (1958) A unique case of trichorrhexis nodosa—Bamboo hairs. AMA Arch Dermatol 78(4):483–487

    Article  CAS  Google Scholar 

  55. Ng E, Hale CS, Meehan SA, Cohen DE (2014) Netherton syndrome with ichthyosis linearis circumflexa and trichorrhexis invaginatum. Dermatol Online J 20(12)

  56. Oeffner F, Fischer G, Happle R, König A, Betz RC, Bornholdt D, Neidel U, Boente Mdel C, Redler S, Romero-Gomez J, Salhi A, Vera-Casaño A, Weirich C, Grzeschik KH (2009) IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response. Am J Hum Genet 84:459–467

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  57. Oeffner F, Martinez F, Schaffer J, Salhi A, Monfort S, Oltra S, Neidel U, Bornholdt D, van Bon B, König A (2011) Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome. Exp Dermatol 20:447–449

    Article  CAS  PubMed  Google Scholar 

  58. Oji V, Metze D, Traupe H (2016) Inherited disorders of cornification. In: Griffiths C, Bark-er J, Bleiker T, Chlamers R, Creamer D (eds) Rook’s textbook of dermatology, 9th edn. Wiley, New York, pp 1–97

    Google Scholar 

  59. 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, Milestone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu H, Sprecher E, Van Steensel M, Taiieb A, Toro JR, Vabres P, Vahlquist A, Williams M, Traupe H (2010) Revised nomenclature and classification of inherited ichthyoses: results of the first ichthyosis consensus conference in Soreze 2009. J Am Acad Dermatol 63(4):607–641. doi:10.1016/j.jaad.2009.11.020

    Article  PubMed  Google Scholar 

  60. Palmer SL, Armstrong C, Onar-Thomas A, Wu S, Wallace D, Bonner MJ, Schreiber J, Swain M, Chapieski L, Mabbott D (2013) Processing speed, attention, and working memory after treatment for medulloblastoma: an international, prospective, and longitudinal study. J Clin Oncol 31:3494–3500

    Article  PubMed  PubMed Central  Google Scholar 

  61. Powell J (2000) Increasing the likelihood of early diagnosis of Netherton syndrome by simple examination of eyebrow hairs. Arch Dermatol 136:423–424

    Article  CAS  PubMed  Google Scholar 

  62. Price VH, Odom RB, Ward WH, Jones FT (1980) Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex. Arch Dermatol 116:1375–1384

    Article  CAS  PubMed  Google Scholar 

  63. Renner ED, Hartl D, Rylaarsdam S, Young ML, Monaco-Shawver L, Kleiner G, Markert ML, Stiehm ER, Belohradsky BH, Upton MP, Torgerson TR, Orange JS, Ochs HD (2009) Comel–Netherton syndrome defined as primary immunodeficiency. J Allergy Clin Immunol 124(3):536–543. doi:10.1016/j.jaci.2009.06.009

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  64. Richard G, Choate K, Milstone L, Bale S (2013) Management of ichthyosis and related conditions gene-based diagnosis and emerging gene-based therapy. Dermatol Ther 26(1):55–68

    Article  PubMed  Google Scholar 

  65. Roberts RM, Mathialagan N, Duffy JY, Smith GW (1995) Regulation and regulatory role of proteinase inhibitors. Crit Rev Eukaryot Gene Expr 5:385–436

    Article  CAS  PubMed  Google Scholar 

  66. Rothe MJ, Lucky AW (1995) Are ichthyosis follicularis and hereditary mucoepithelial dystrophy related diseases? Pediatr Dermatol 12:195

    Article  CAS  PubMed  Google Scholar 

  67. Saghari S, Woolery-Lloyd H, Nouri K (2002) Squamous cell carcinoma in a patient with Netherton’s syndrome. Int J Dermatol 41:415–416

    Article  PubMed  Google Scholar 

  68. Saral S, Vural A, Wollenberg A, Ruzicka T (2016) A practical approach to ichthyoses with systemic manifestations. Clin Genet 91:799–812. doi:10.1111/cge.12828

    Article  PubMed  Google Scholar 

  69. Sarri CA, Roussaki-Schulze A, Vasilopoulos Y, Zafiriou E, Patsatsi A, Stamatis C, Gidarokosta P, Sotiriadis D, Sarafidou T, Mamuris Z (2017) Netherton syndrome: a genotype-phenotype review. Mol Diagn Ther 21(2):137–152. doi:10.1007/s40291-016-0243-y

    Article  CAS  PubMed  Google Scholar 

  70. Schultz P, Fribourg S, Poterszman A, Mallouh V, Moras D, Egly JM (2000) Molecular structure of human TFIIH. Cell 102:599–607

    Article  CAS  PubMed  Google Scholar 

  71. Shah I, Bhatnagar S (2010) NISCH syndrome with hypothyroxinemia. Ann Hepatol 9(3):299–301

    PubMed  Google Scholar 

  72. Smith DL, Smith JG, Wong SW (1995) Netherton’s syndrome: a syndrome of elevated IgE and characteristic skin and hair findings. J Allergy Clin Immunol 95:116–123

    Article  CAS  PubMed  Google Scholar 

  73. Stefanini M, Lagomarsini P, Arlett C, Marinoni S, Borrone C, Crovato F, Trevisan G, Cordone G, Nuzzo F (1986) Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity. Hum Genet 74(2):107–112

    Article  CAS  PubMed  Google Scholar 

  74. Suga Y, Tsuboi R, Hashimoto Y, Yoshiike T, Ogawa H (2000) A case of ichthyosis linearis circumflexa successfully treated with topical tacrolimus. J Am Acad Dermatol 42(3):520–522

    Article  CAS  PubMed  Google Scholar 

  75. Sun JD, Linden KG (2006) Netherton syndrome: a case report and review of the literature. Int J Dermatol 45(6):693–697

    Article  PubMed  Google Scholar 

  76. Takeichi T, Nanda A, Aristodemou S, McMillan J, Lee J, Akiyama M, Al-Ajmi H, Simpson M, McGrath J (2015) Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family. Br J Dermatol 172(5):1407–1411

    Article  CAS  PubMed  Google Scholar 

  77. Tursen U, Kaya T, Ikizoglu G, Aktekin M, Aras N (2002) Genetic syndrome with ichthyosis: congenital ichthyosis, follicular atrophoderma, hypotrichosis, and woolly hair; second report. Br J Dermatol 147(3):604–606

    Article  CAS  PubMed  Google Scholar 

  78. Vermeulen W, Bergmann E, Auriol J, Rade-makers S, Frit P, Appeldoorn E, Hoeijmakers JH, Egly J-M (2000) Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder. Nat Genet 26(3):307–313

    Article  CAS  PubMed  Google Scholar 

  79. Weber F, Fuchs PG, Pfister HJ, Hintner H, Fritsch P, Hoepfl R (2001) Human papillomavirus infection in Netherton’s syndrome. Br J Dermatol 144(5):1044–1049

    Article  CAS  PubMed  Google Scholar 

  80. Yoneda K (2016) Inherited ichthyosis: syndromic forms. J Dermatol 43(3):252–263

    Article  PubMed  Google Scholar 

  81. Youssefian L, Vahidnezhad H, Saeidian AH, Sotoudeh S, Zeinali S, Uitto J (2017) Gene-targeted next-generation sequencing identifies a novel CLDN1 mutation in a consanguineous family with NISCH syndrome. Am J Gastroenterol 112(2):396–398

    Article  CAS  PubMed  Google Scholar 

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Acknowledgements

The Authors acknowledge Dr. Asif Kamal, Consultant Dermatologist, NESCOM Hospital, Pakistan and Dr. Ayesha Butt, Dermatologist and cosmetologist, Shaafi International Hospital for their assistance regarding the management of ichthyosis syndromes.

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  1. Department of Bioinformatics and Biotechnology, Maryum Block, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan

    Madiha Rasheed, Shaheen Shahzad, Afifa Zaeem, Asma Gul & Sumbal Khalid

  2. Department of Biology, Lahore Garrison University, Lahore, Pakistan

    Imran Afzal

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Rasheed, M., Shahzad, S., Zaeem, A. et al. Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities. Arch Dermatol Res 309, 773–785 (2017). https://doi.org/10.1007/s00403-017-1780-x

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