Introduction

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• 2  Muñoz‐Garcia A, Thomas CP, Keeney DS, et al. The importance of the lipoxygenase–hepoxilin pathway in the mammalian epidermal barrier. Biochim Biophys Acta 2014;401–8.
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• 5  Hanneken S, Rütten A, Pasternack SM, et al. Systematic mutation screening of KRT5 supports the hypothesis that Galli–Galli disease is a variant of Dowling–Degos disease. Br J Dermatol 2010;163:197–200. Pubmed link
• 6  Camisa C, Hessel A, Rossana C, Parks A. Autosomal dominant keratoderma, ichthyosiform dermatosis and elevated serum beta‐glucuronidase. Dermatologica 1988;177:341–7. Cross Ref link Pubmed link
• 7  Gedicke MM, Traupe H, Fischer B, et al. Towards characterization of palmoplantar keratoderma caused by gain‐of‐function mutation in loricrin: analysis of a family and review of the literature. Br J Dermatol 2006;154:167–71. Cross Ref link Pubmed link
• 8  Peukert M. Über Ichthyosis. Eine Übersicht. Dermatol Z (Berlin) 1899:171–204. Cross Ref link
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• 10  Griffin LJ, Massa MC. Acquired ichthyosis and pityriasis rotunda. Clin Dermatol 1993;11:27–32. Cross Ref link Pubmed link

Ichthyoses

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• 13  Elias PM, Williams ML, Crumrine D, Schmuth M. Ichthyoses. Clinical biochemical, pathogenic and diagnostic assessment. Basel: Karger Verlag, 2010.
• 14  Oji V, Tadini G, Akiyama M, et al. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol 2010;63:607–41. Cross Ref link Pubmed link
• 15  Oji V1, Traupe H. Ichthyoses: differential diagnosis and molecular genetics. Eur J Dermatol 2006;16:349–59. Pubmed link
• 16  Harper PS. Genetic heterogeneity in the ichthyoses. In: Marks R, Dylos PJ, ed. The Ichthyoses. Proceedings of the 2nd Annual Clinicaly Orientated Symposion of the ESDR. Lancaster: MTP Press, 1978:127–36.
• 17  Traupe H, Fischer J, Oji V. Nonsyndromic types of ichthyoses – an update. J Dtsch Dermatol Ges 2013;12:109–21. Pubmed link

Ichthyosis vulgaris

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• 19  Smith FJ, Irvine AD, Terron‐Kwiatkowski A, et al. Loss‐of‐function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 2006;38:337–42. Cross Ref link Pubmed link
• 20  Sandilands A, Terron‐Kwiatkowski A, Hull PR, et al. Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet 2007;39:650–4. Cross Ref link Pubmed link
• 21  Oji V, Seller N, Sandilands A, 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;160:771–81. Cross Ref link Pubmed link
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• 25  Thyssen JP, Godoy‐Gijon E, Elias PM. Ichthyosis vulgaris: the filaggrin mutation disease. Br J Dermatol 2013;168:1155–66. Cross Ref link Pubmed link
• 26  Wells RS, Kerr CB. Clinical features of autosomal dominant and sex‐linked ichthyosis in an English population. BMJ 1966;1:947–50. Cross Ref link Pubmed link
• 27  Oji V, Traupe H. Ichthyosis: clinical manifestations and practical treatment options. Am J Clin Dermatol 2009;10:351–64. Cross Ref link Pubmed link
• 28  Blanchet‐Bardon C, Tadini G, Machado Matos M, Delarue A. Association of glycerol and paraffin in the treatment of ichthyosis in children: an international, multicentric, randomized, controlled, double‐blind study. J Eur Acad Dermatol Venereol 2012;26:1014–19. Cross Ref link Pubmed link
• 29  Stout TE, McFarland T, Mitchell JC, et al. Recombinant filaggrin is internalized and processed to correct filaggrin deficiency. Invest Dermatol 2014;134:423–9. Cross Ref link

Recessive X‐linked ichthyosis

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• 38  Hernández‐Martín A, González‐Sarmiento R, De Unamuno P. X‐linked ichthyosis: an update. Br J Dermatol 1999;141:617–27. Cross Ref link Pubmed link
• 39  Traupe H, Happle R. Clinical spectrum of steroid sulfatase deficiency: X‐linked recessive ichthyosis, birth complications and cryptorchidism. Eur J Pediatr 1983;140:19–21. Cross Ref link Pubmed link
• 40  Kent L, Emerton J, Bhadravathi V, et al. X‐linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits. J Med Genet 2008;45:519–24. Cross Ref link Pubmed link
• 41  Trent S, Cassano T, Bedse G, et al. Altered serotonergic function may partially account for behavioral endophenotypes in steroid sulfatase‐deficient mice. Neuropsychopharmacology 2012;37:1267–74. Cross Ref link Pubmed link
• 42  Ben Khelifa H, Soyah N, Ben‐Abdallah‐Bouhjar I, et al. Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X‐linked ichthyosis and mental retardation. Gene 2013;527:578–83. Cross Ref link Pubmed link
• 43  Bruckner‐Tuderman L, Sigg C, Geiger JM, Gilardi S. Acitretin in the symptomatic therapy for severe recessive x‐linked ichthyosis. Arch Dermatol 1988;124:529–32. Cross Ref link Pubmed link

Autosomal recessive congenital ichthyosis

• 44  Oji V, Tadini G, Akiyama M, et al. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol 2010;63:607–41. Cross Ref link Pubmed link
• 45  Vahlquist A, Bygum A, Gånemo A, et al. Genotypic and clinical spectrum of self‐improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. J Invest Dermatol 2010;130:438–43. Cross Ref link Pubmed link
• 46  Traupe H, Fischer J, Oji V. Nonsyndromic types of ichthyoses – an update. J Dtsch Dermatol Ges 2014;12:109–21 Pubmed link
• 47  Hernández‐Martín A, Garcia‐Doval I, Aranegui B, et al. Prevalence of autosomal recessive congenital ichthyosis: a population‐based study using the capture–recapture method in Spain. J Am Acad Dermatol 2012;67:240–4. Cross Ref link Pubmed link
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• 50  Rabionet M, Gorgas K, Sandhoff R. Ceramide synthesis in the epidermis. Biochim Biophys Acta 2014;1841:422–34. Cross Ref link Pubmed link
• 51  Goytain A, Hines RM, Quamme GA. Functional characterization of NIPA2, a selective Mg2+ transporter. Am J Physiol Cell Physiol 2008;295:C944–53. Cross Ref link Pubmed link
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• 55  Fischer J. Autosomal recessive congenital ichthyosis. J Invest Dermatol 2009;129:1319–21. Cross Ref link Pubmed link

Harlequin ichthyosis

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• 57  Thomas AC, Cullup T, Norgett EE, et al. ABCA12 is the major harlequin ichthyosis gene. J Invest Dermatol 2006;126:2408–13. Cross Ref link Pubmed link
• 58  Akiyama M, Sugiyama‐Nakagiri Y, Sakai K, et al. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest 2005;115:1777–84. Cross Ref link Pubmed link
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• 62  Caubet C, Jonca N, Brattsand M, et al. Degradation of corneodesmosome proteins by two serine proteases of the kallikrein family, SCTE/KLK5/hK5 and SCCE/KLK7/hK7. J Invest Dermatol 2004;122:1235–44. Cross Ref link Pubmed link
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• 64  Yanagi T, Akiyama M, Nishihara H, et al. Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects. Hum Mol Genet 2008;17:3075–83. Cross Ref link Pubmed link
• 65  Milner ME, O'Guin WM, Holbrook KA, Dale BA. Abnormal lamellar granules in harlequin ichthyosis. J Invest Dermatol 1992;99:824–9. Cross Ref link Pubmed link

Collodion baby and self‐improving congenital ichthyosis

• 66  Van Gysel D, Lijnen RL, Moekti SS, et al. Collodion baby: a follow‐up study of 17 cases. J Eur Acad Dermatol Venereol 2002;16:472–5. Cross Ref link Pubmed link
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Bathing suit ichthyosis

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• 70  Oji V, Hautier JM, Ahvazi B, et al. Bathing suit ichthyosis is caused by transglutaminase‐1 deficiency: evidence for a temperature‐sensitive phenotype. Hum Mol Genet 2006;15:3083–97. Cross Ref link Pubmed link
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• 73  Trindade F, Fiadeiro T, Torrelo A, et al. Bathing suit ichthyosis. Eur J Dermatol 2010;20:447–50. Pubmed link
• 74  Bourrat E, Blanchet‐Bardon C, Derbois C, et al. Specific TGM1 mutation profiles in bathing suit and self‐improving collodion ichthyoses: phenotypic and genotypic data from 9 patients with dynamic phenotypes of autosomal recessive congenital ichthyosis. Arch Dermatol 2012;148:1191–5. Cross Ref link Pubmed link
• 75  Hackett BC, Fitzgerald D, Watson RM, et al. 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;162:448–51. Cross Ref link Pubmed link
• 76  Yamamoto M, Sakaguchi Y, Itoh M, et al. Bathing suit ichthyosis with summer exacerbation: a temperature‐sensitive case. Br J Dermatol 2012;166:672–4. Cross Ref link Pubmed link
• 77  Washio K, Fukunaga A, Terai M, et al. Hypohidrosis plays a crucial role in the vicious circle of bathing suit ichthyosis: a case with summer exacerbation. Acta Derm Venereol 2014;94:349–50. Cross Ref link Pubmed link

Lamellar ichthyosis and congenital ichthyosiform erythroderma

• 78  Frost P, Weinstein GD, Van Scott EJ. The ichthyosiform dermatoses. II. Autoradiographic studies of epidermal proliferation. J Invest Dermatol 1966;47:561–7. Cross Ref link Pubmed link
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• 86  Jobard F, Lefèvre C, Karaduman A, 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;11:107–13. Cross Ref link Pubmed link
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• 93  Lefèvre C, Bouadjar B, Ferrand V, et al. Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. Hum Mol Genet 2006;15:767–76. Cross Ref link Pubmed link
• 94  Eckl KM, Tidhar R, Thiele H, et al. Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. J Invest Dermatol 2013;133:2202–11. Cross Ref link Pubmed link
• 95  Radner FP, Marrakchi S, Kirchmeier P, et al. Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans. PLOS Genet 2013;9:e1003536. Cross Ref link Pubmed link
• 96  Israeli S, Khamaysi Z, Fuchs‐Telem D, et al. A mutation in LIPN, encoding epidermal lipase N, causes a late‐onset form of autosomal‐recessive congenital ichthyosis. Am J Hum Genet 2011;88:482–7. Cross Ref link Pubmed link
• 97  Grall A, Guaguère E, Planchais S, et al. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet 2012;44:140–7. Cross Ref link Pubmed link
• 98  Vahlquist A, Bygum A, Gånemo A, et al. Genotypic and clinical spectrum of self‐improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. J Invest Dermatol 2010;130:438–43. Cross Ref link Pubmed link
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• 103  Niemi KM, Kanerva L, Kuokkanen K. Recessive ichthyosis congenita type II. Arch Dermatol Res 1991;283:211–18. Cross Ref link Pubmed link
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• 106  Elias PM, Williams ML, Holleran WM, et al. Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism. J Lipid Res 2008;49:697–714. Cross Ref link Pubmed link

Keratinopathic ichthyoses

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• 114  Li H, Törmä H. Retinoids reduce formation of keratin aggregates in heat‐stressed immortalized keratinocytes from an epidermolytic ichthyosis patient with a KRT10 mutation. Acta Derm Venereol 2013;93:44–9. Pubmed link
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• 118  Müller FB, Huber M, Kinaciyan T, et al. A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. Hum Mol Genet 2006;15:1133–41. Cross Ref link Pubmed link
• 119  Nousbeck J, Padalon‐Brauch G, et al. Semidominant inheritance in epidermolytic ichthyosis. J Invest Dermatol 2013;133:2626–8. Cross Ref link Pubmed link
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Epidermolytic ichthyosis

• 127  DiGiovanna JJ, Bale SJ. Clinical heterogeneity in epidermolytic hyperkeratosis. Arch Dermatol 1994;130:1026–35. Cross Ref link Pubmed link
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Superficial epidermolytic ichthyosis

• 138  Siemens WH. Dichtung und Wahrheit über die ‘Ichthyosis bullosa’, mit Bemerkungen zur Systemik der Epidermolysen. Arch Dermatol Syph 1937;175:590–608. Cross Ref link
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Annular epidermolytic ichthyosis

• 145  Joh GY, Traupe H, Metze 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;108:357–61. Cross Ref link Pubmed link
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Congenital reticular ichthyosiform erythroderma

• 148  Choate KA, Lu Y, Zhou J, et al. Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. Science 2010;330:94–7. Cross Ref link Pubmed link
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Ichthyosis Curth–Macklin

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• 155  Curth H, Macklin MT. The genetic basis of various types of ichthyosis in a family group. Am J Hum Genet 1954;6:371–82. Pubmed link
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Erythrokeratoderma

• 158  Gottron H. Congenital angelegte symmetrische progressive erythrokeratodermie. Z Haut Ges 1922;4:493–4.
• 159  Darier MJ. Erythro‐kératodermie verruqueuse en nappes, symétrique et progressive. Bull Soc Fr Dermatol Syphiligr 1911;2:252–64.
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Erythrokeratoderma variabilis

• 162  Richard G, Smith LE, Bailey RA, et al. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nat Genet 1998;20:366–9. Cross Ref link Pubmed link
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• 171  Singh N, Thappa DM. Erythrokeratoderma variabilis responding to low‐dose isotretinoin. Pediatr Dermatol 2010;27:111–13. Cross Ref link Pubmed link

Progressive symmetrical erythrokeratoderma

• 172  Gottron H. Congenital angelegte symmetrische progressive erythrokeratodermie. Z Haut Ges 1922;4:493–4.
• 173  Richard G, Brown N, Rouan F, et al. Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and ­genotype–phenotype correlations. J Invest Dermatol 2003;120:601–9. Cross Ref link Pubmed link
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• 175  Macfarlane AW, Chapman SJ, Verbov JL. Is erythrokeratoderma one disorder? A clinical and ultrastructural study of two siblings. Br J Dermatol 1991;124:487–91. Cross Ref link Pubmed link

Symmetrical acrokeratoderma

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• 177  Blaydon DC, Nitoiu D, Eckl KM, et al. Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell–cell adhesion. Am J Hum Genet 2011;89:564–71. Cross Ref link Pubmed link

Other non‐syndromic forms of ichthyosis

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• 179  Vahlquist A, Pontén F, Pettersson A. Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK‐syndrome): a rare, autosomal recessive disorder of keratohyaline formation? Acta Derm Venereol 1997;77(3):225–7. Pubmed link
• 180  Dahlqvist J, Klar J, Tiwari N, 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. Cross Ref link Pubmed link
• 181  Tattersall D, Scott CA, Gray C, Zicha D, Kelsell DP. EKV mutant connexin 31 associated cell death is mediated by ER stress. Hum Mol Genet 2009 Dec 15;18(24):4734–45. Cross Ref link Pubmed link
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Exfoliative ichthyosis

• 185  Blaydon DC, Nitoiu D, Eckl KM, et al. Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell–cell adhesion. Am J Hum Genet 2011;89:564–71. Cross Ref link Pubmed link
• 186  Hatsell SJ, Stevens H, Jackson AP, et al. An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13. Br J Dermatol 2003;149:174–80. Cross Ref link Pubmed link
• 187  Krunic AL, Stone KL, Simpson MA, McGrath JA. Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A. Pediatr Dermatol 2013;30:e87–8. Cross Ref link Pubmed link

X‐linked syndromes concerning distal cholesterol biosynthesis

Conradi–Hünermann–Happle syndrome

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• 194  Traupe H, Müller D, Atherton D, et al. Exclusion mapping of the X‐linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre‐mutation. Hum Genet 1992;89:659–65. Cross Ref link Pubmed link
• 195  Grzeschik KH, Bornholdt D, Oeffner F, et al. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nat Genet 2007;39:833–5. Cross Ref link Pubmed link
• 196  Porter FD, Herman GE. Malformation syndromes caused by disorders of cholesterol synthesis. J Lipid Res 2011;52:6–34 Cross Ref link Pubmed link
• 197  Akiyama M, Sakai K, Hayasaka K, et al. Conradi–Hünermann–Happle syndrome with abnormal lamellar granule contents. Br J Dermatol 2009;160:1335–7. Cross Ref link Pubmed link
• 198  Milunsky JM, Maher TA, Metzenberg AB. Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X‐linked dominant Conradi–Hunermann–Happle syndrome and a mutation in EBP. Am J Med Genet A 2003;116A:249–54. Cross Ref link Pubmed link
• 199  Happle R. Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi–Hünermann–Happle syndrome. Am J Med Genet A 2003;122A:279. Cross Ref link Pubmed link
• 200  Arnold AW, Bruckner‐Tuderman L, Has C, Happle R. Conradi–Hünermann–Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects). Br J Dermatol 2012;166:1309–13. Cross Ref link Pubmed link
• 201  Hartill VL, Tysoe C, Manning N. An unusual phenotype of X‐linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene. Am J Med Genet A 2014;164:907–14. Cross Ref link
• 202  McLarren KW, Severson TM, du Souich C, et al. Hypomorphic temperature‐sensitive alleles of NSDHL cause CK syndrome. Am J Hum Genet 2010;87:905–14. Cross Ref link Pubmed link
• 203  Bornholdt D, König A, Happle R, et al. Mutational spectrum of NSDHL in CHILD syndrome. J Med Genet 2005;42:17. Cross Ref link Pubmed link
• 204  Paller AS1, van Steensel MA, Rodriguez‐Martín M, et al. Pathogenesis‐based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolism. J Invest Dermatol 2011;131:2242–8. Cross Ref link Pubmed link

Congenital hemidysplasia–ichthyosiform naevus–limb defect syndrome

• 205  Happle R, Koch H, Lenz W. The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Eur J Pediatr 1980;134:27–33. Cross Ref link Pubmed link
• 206  Happle R, Mittag H, Küster W. The CHILD nevus: a distinct skin disorder. Dermatology 1995;191:210–16. Cross Ref link Pubmed link
• 207  König A, Happle R, Bornholdt D, et al. Mutations in the NSDHL gene, encoding a 3beta‐hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet 2000;90:339–46. Cross Ref link Pubmed link
• 208  Liu XY, Dangel AW, Kelley RI, et al. The gene mutated in bare patches and striated mice encodes a novel 3beta‐hydroxysteroid dehydrogenase. Nat Genet 1999;22:182–7. Cross Ref link Pubmed link
• 209  Jiang F, Herman GE. Analysis of Nsdhl‐deficient embryos reveals a role for Hedgehog signaling in early placental development. Hum Mol Genet 2006;15:3293–305. Cross Ref link Pubmed link
• 210  Bittar M, Happle R, Grzeschik KH, et al. CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions. Arch Dermatol 2006;142:348–51. Cross Ref link Pubmed link
• 211  Danarti R, Grzeschik KH, Radiono S, et al. Left‐sided CHILD syndrome caused by a nonsense mutation in exon 7 of the NSDHL gene. Eur J Dermatol 2010;20:634–5. Pubmed link
• 212  Happle R, Effendy I, Megahed M, et al. CHILD syndrome in a boy. Am J Med Genet 1996;62:192–4. Cross Ref link Pubmed link
• 213  König A, Skrzypek J, Löffler H, et al. Donor dominance cures CHILD nevus. Dermatology 2010;220:340–5. Cross Ref link Pubmed link
• 214  Paller AS, van Steensel MA, Rodriguez‐Martín M, et al. Pathogenesis‐based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolism. J Invest Dermatol 2011;131:2242–8. Cross Ref link Pubmed link

Ichthyosis follicularis–atrichia–photophobia syndrome

• 215  Hamm H, Meinecke P, Traupe H. Further delineation of the ichthyosis follicularis, atrichia, and photophobia syndrome. Eur J Pediatr 1991;150:627–9. Cross Ref link Pubmed link
• 216  König A, Happle R. Linear lesions reflecting lyonization in women heterozygous for IFAP syndrome (ichthyosis follicularis with atrichia and photophobia). Am J Med Genet 1999;85:365–8. Cross Ref link Pubmed link
• 217  Oeffner F, Fischer G, Happle R, 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;84:459–67. Cross Ref link Pubmed link
• 218  Aten E, Brasz LC, Bornholdt D, et al. Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2. Hum Mutat 2010;31:1125–33. Cross Ref link Pubmed link
• 219  Naiki M, Mizuno S, Yamada K, et al. MBTPS2 mutation causes BRESEK/BRESHECK syndrome. Am J Med Genet A 2012;158A:97–102. Cross Ref link Pubmed link
• 220  Bornholdt D, Atkinson TP, Bouadjar B, et al. Genotype–phenotype correlations emerging from the identification of missense mutations in MBTPS2. Hum Mutat 2013;34:587–94. Pubmed link
• 221  Haghighi A, Scott CA, Poon DS, et al. A missense mutation in the MBTPS2 gene underlies the X‐linked form of Olmsted syndrome. J Invest Dermatol 2013;133:571–3. Cross Ref link Pubmed link
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• 223  Mégarbané H, Mégarbané A. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome. Orphanet J Rare Dis 2011;6:29. Cross Ref link Pubmed link
• 224  Bibas‐Bonet H, Fauze R, Boente MC, et al. IFAP syndrome “plus” seizures, mental retardation, and callosal hypoplasia. Pediatr Neurol 2001;24:228–31. Cross Ref link Pubmed link
• 225  Keyvani K, Paulus W, Traupe H, et al. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33‐year‐old man. Am J Med Genet 1998;78:371–7. Cross Ref link Pubmed link
• 226  Rothe MJ, Lucky AW. Are ichthyosis follicularis and hereditary mucoepithelial dystrophy related diseases? Pediatr Dermatol 1995;12:195. Cross Ref link Pubmed link
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Exfoliative disorders of cornification

Comèl–Netherton syndrome

• 228  Comèl M. Ichthyosis linearis circumflexa. Dermatologica 1949;98:133–6. Cross Ref link Pubmed link
• 229  Netherton EW. A unique case of trichorrhexis nodosa – ‘bamboo hairs’. Arch Dermatol 1958;78:483–87. Cross Ref link
• 230  Traupe H. The Comèl Netherton syndrome. In: Traupe H, ed. The Ichthyoses: a guide to clinical diagnosis, genetic counselling, and therapy. Berlin: Springer, 1989:168–78.
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• 232  Chavanas S, Bodemer C, Rochat A, et al. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet 2000;25:141–2. Cross Ref link Pubmed link
• 233  Mägert HJ, Ständker L, Kreutzmann P, et al. LEKTI, a novel 15‐domain type of human serine proteinase inhibitor. J Biol Chem 1999;247:21499–502.
• 234  Komatsu N, Saijoh K, Otsuki N, et al. Proteolytic processing of human growth hormone by multiple tissue kallikreins and regulation by the serine protease inhibitor Kazal‐Type5 (SPINK5) protein. Clin Chim Acta 2007;377:228–36. Cross Ref link Pubmed link
• 235  Bitoun E, Micheloni A, Lamant L, et al. LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome. Hum Mol Genet 2003;12:2417–30. Cross Ref link Pubmed link
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• 238  Descargues P, Deraison C, Prost C, et al. Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin‐ and chymotrypsin‐like hyperactivity in Netherton syndrome. J Invest Dermatol 2006;126:1622–32. Cross Ref link Pubmed link
• 239  Bonnart C, Deraison C, Lacroix M, et al. Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing. J Clin Invest 2010;120:871–82. Cross Ref link Pubmed link
• 240  Briot A, Deraison C, Lacroix M, et al. Kallikrein 5 induces atopic dermatitis‐like lesions through PAR2‐mediated thymic stromal lymphopoietin expression in Netherton syndrome. J Exp Med 2009;206:1135–47. Cross Ref link Pubmed link
• 241  Briot A, Lacroix M, Robin A, et al. Par2 inactivation inhibits early production of TSLP, but not cutaneous inflammation, in Netherton syndrome adult mouse model. J Invest Dermatol 2010;130:2736–42. Cross Ref link Pubmed link
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• 243  Denecker G, Ovaere P, Vandenabeele P, Declercq W. Caspase‐14 reveals its secrets. J Cell Biol 2008;180:451–8. Cross Ref link Pubmed link
• 244  Hovnanian A. Netherton syndrome: skin inflammation and allergy by loss of protease inhibition. Cell Tissue Res 2013;351:289–300. Cross Ref link Pubmed link
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• 246  Bitoun E, Chavanas S, Irvine AD, et al. Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol 2002;118:352–61. Cross Ref link Pubmed link
• 247  Raghunath M, Tontsidou L, Oji V, et al. SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases. J Invest Dermatol 2004;123:474–83. Cross Ref link Pubmed link
• 248  Israeli S, Sarig O, Garty BZ, et al. Molecular analysis of a series of israeli families with Comèl–Netherton syndrome. Dermatology 2014;228:183–8. Cross Ref link Pubmed link
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• 250  Judge MR, Morgan G, Harper JI. A clinical and immunological study of Netherton's syndrome. Br J Dermatol 1994;131:615–21. Cross Ref link Pubmed link
• 251  Elias PM, Wakefield JS. Therapeutic implications of a barrier‐based pathogenesis of atopic dermatitis. Clin Rev Allergy Immunol 2011;41:282–95. Cross Ref link Pubmed link
• 252  Komatsu N, Saijoh K, Otsuki N, et al. Proteolytic processing of human growth hormone by multiple tissue kallikreins and regulation by the serine protease inhibitor Kazal‐Type5 (SPINK5) protein. Clin Chim Acta 2007;377:228–36. Cross Ref link Pubmed link
• 253  Aydın BK, Baş F, Tamay Z, et al. Netherton syndrome associated with growth hormone deficiency. Pediatr Dermatol 2014;31:90–4. Cross Ref link Pubmed link
• 254  Beljan G, Traupe H, Metze D, Sunderkötter C. [Comèl–Netherton syndrome with bacterial superinfection.] Hautarzt 2003;54:1198–202. Cross Ref link Pubmed link
• 255  Elbaum DJ, Kurz G, MacDuff M. Increased incidence of cutaneous carcinomas in patients with congenital ichthyosis. J Am Acad Dermatol 1995;33:884–6. Cross Ref link Pubmed link
• 256  Weber F, Fuchs PG, Pfister HJ, et al. Human papillomavirus infection in Netherton's syndrome. Br J Dermatol 2001;144:1044–9. Cross Ref link Pubmed link
• 257  Saghari S, Wollery‐Lloyd H, Nouri K. Squamous cell carcinoma in a patient with Netherton's syndrome. Int J Dermatol 2002;41:415–16. Cross Ref link Pubmed link
• 258  Krasagakis K, Ioannidou DJ, Stephanidou M, et al. Early development of multiple epithelial neoplasms in Netherton syndrome. Dermatology 2003;207:182–4. Cross Ref link Pubmed link
• 259  Folster‐Holst R, Swennson O, Stockfleth E, et al. Comel–Netherton syndrome complicated by papillomatous skin lesions containing human papillomaviruses 51 and 52 and plane warts containing human papillomavirus 16. Br J Dermatol 1999;140:1139–43. Cross Ref link Pubmed link
• 260  Li AL, Walsh S, McKay DR. Surgical management of a giant condyloma of Buschke–Löwenstein in a patient with Netherton syndrome using the pedicled anterolateral thigh flap – a case report. J Plast Reconstr Aesthet Surg 2011;64:1533–6. Cross Ref link Pubmed link
• 261  Ong C, O'Toole EA, Ghali L, et al. LEKTI demonstrable by immunohistochemistry of the skin: a potential diagnostic skin test for Netherton syndrome. Br J Dermatol 2004;151:1253–7. Cross Ref link Pubmed link
• 262  Leclerc‐Mercier S, Hovnanian A, Fraitag S. Lekti immunochemistry for the diagnosis of netherton syndrome. Am J Dermatopathol 2012 Dec;34:853. Cross Ref link
• 263  Hausser I, Anton‐Lamprecht I. Severe congenital generalized exfoliative erythroderma in newborns and infants: a possible sign of Netherton syndrome. Pediatr Dermatol 1996;13:183–99. Cross Ref link Pubmed link
• 264  Powell J, Dawber RP, Ferguson DJ, Griffiths WA. Netherton's syndrome: increased likelihood of diagnosis by examining eyebrow hairs. Br J Dermatol 1999;141:544–6. Cross Ref link Pubmed link
• 265  Ishida‐Yamamoto A, Igawa S, Kishibe M. Order and disorder in corneocyte adhesion. J Dermatol 2011;38:645–54. Cross Ref link Pubmed link
• 266  Muller FB, Hauber I, Berg D, et al. Genetic analysis of a severe case of Netherton syndrome and application for prenatal testing. Br J Dermatol 2002;146:495–9. Cross Ref link Pubmed link
• 267  Bingol B, Tasdemir S, Gunenc Z, et al. Prenatal diagnosis of Comel–Netherton syndrome with PGD, case report and review article. J Assist Reprod Genet 2011;28:615–20. Cross Ref link Pubmed link
• 268  Oji V, Traupe H. Ichthyosis: clinical manifestations and practical treatment options. Am J Clin Dermatol 2009;10:351–64. Cross Ref link Pubmed link
• 269  Garty BZ, Nimri R. Hypothyroidism in Netherton syndrome. Pediatr Dermatol 2008;25:134–5. Cross Ref link Pubmed link
• 270  HalverstAm CP, Vachharajani A, Mallory SB. Cushing syndrome from percutaneous absorption of 1% hydrocortisone ointment in Netherton syndrome. Pediatr Dermatol 2007;24:42–5. Cross Ref link Pubmed link
• 271  Yan AC, Honig PJ, Ming ME, et al. The safety and efficacy of pimecrolimus, 1%, cream for the treatment of Netherton syndrome: results from an exploratory study. Arch Dermatol 2010;146:57–62. Pubmed link
• 272  Oji V, Beljan G, Beier K, et al. Topical pimecrolimus: a novel therapeutic option for Netherton syndrome. Br J Dermatol 2005;153:1067–8. Cross Ref link Pubmed link
• 273  Allen A, Siegfried E, Silverman R, et al. Significant absorption of topical tacrolimus in 3 patients with Netherton syndrome. Arch Dermatol 2001;137:747–50. Pubmed link
• 274  Godic A, Dragos V. Successful treatment of Netherton's syndrome with topical calcipotriol. Eur J Dermatol 2004;14:115–17. Pubmed link
• 275  Capezzera R, Venturini M, Bianchi D, et al. UVA1 phototherapy of Netherton syndrome. Acta Derm Venereol 2004;84:69–70. Cross Ref link Pubmed link
• 276  Maatouk I, Moutran R, Tomb R. Narrowband ultraviolet B phototherapy associated with improvement in Netherton syndrome. Clin Exp Dermatol 2012;37:364–6. Cross Ref link Pubmed link
• 277  Pastore S, Gorlato G, Berti I, et al. Successful induction of oral tolerance in Netherton syndrome. Allergol Immunopathol (Madr) 2012;40:316–17. Cross Ref link Pubmed link
• 278  Renner ED, Hartl D, Rylaarsdam S, et al. Comèl–Netherton syndrome defined as primary immunodeficiency. J Allergy Clin Immunol 2009;124:536–43. Cross Ref link Pubmed link
• 279  Gallagher JL, Patel NC. Subcutaneous immunoglobulin replacement therapy with Hizentra® is safe and effective in two infants. J Clin Immunol 2012;32:474–6. Cross Ref link Pubmed link
• 280  Di WL, Larcher F, Semenova E, et al. Ex‐vivo gene therapy restores LEKTI activity and corrects the architecture of Netherton syndrome‐derived skin grafts. Mol Ther 2011;19:408–16. Cross Ref link Pubmed link
• 281  Roedl D, Oji V, Buters JT, et al. rAAV2‐mediated restoration of LEKTI in LEKTI‐deficient cells from Netherton patients. J Dermatol Sci 2011;61:194–8. Cross Ref link Pubmed link
• 282  Di WL, Mellerio JE, Bernadis C, et al. Phase I study protocol for ex vivo lentiviral gene therapy for the inherited skin disease, Netherton syndrome. Hum Gene Ther Clin Dev 2013;24:182–90. Cross Ref link Pubmed link

Severe dermatitis–multiple allergies–metabolic wasting syndrome

• 283  Samuelov L, Sarig O, Harmon RM, et al. Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting. Nat Genet 2013;45:1244–8. Cross Ref link Pubmed link
• 284  Ishida‐Yamamoto A, Igawa S. Genetic skin diseases related to desmosomes and corneodesmosomes. J Dermatol Sci 2014;74:99–105. Cross Ref link Pubmed link
• 285  Caubet C, Jonca N, Brattsand M, et al. Degradation of corneodesmosome proteins by two serine proteases of the kallikrein family, SCTE/KLK5/hK5 and SCCE/KLK7/hK7. J Invest Dermatol 2004;122:1235–44. Cross Ref link Pubmed link
• 286  Descargues P, Deraison C, Bonnart C, et al. Spink5‐deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity. Nat Genet 2005;37:56–65. Pubmed link
• 287  Has C, Jakob T, He Y, et al. Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies. Br J Dermatol 2014;172:157–61.

Peeling skin syndromes

• 288  Bowden PE. Peeling skin syndrome: genetic defects in late terminal differentiation of the epidermis. J Invest Dermatol 2011;131:561–4. Cross Ref link Pubmed link
• 289  Ishida‐Yamamoto A, Igawa S. Genetic skin diseases related to desmosomes and corneodesmosomes. J Dermatol Sci 2014;74:99–105. Cross Ref link Pubmed link
• 290  Ishida‐Yamamoto A, Igawa S, Kishibe M. Order and disorder in corneocyte adhesion. J Dermatol 2011;38:645–54. Cross Ref link Pubmed link

Peeling skin syndrome type A

• 291  Fox H. Skin shedding (keratolysis exfoliativa congenita): report of a case. Arch Dermatol 1921;3:202.
• 292  Abdel‐Hafez K, Safer AM, Selim MM, Rehak A. Familial continual skin peeling. Dermatologica 1983;166:23–31. Cross Ref link Pubmed link
• 293  Kurban AK, Azar HA. Familial continual skin peeling. Br J Dermatol 1969;81:191–5. Cross Ref link Pubmed link
• 294  Beçhet PE. Deciduous skin. Ann Dermatol Syphilol 1938;37:267–71. Cross Ref link
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• 296  Traupe H. Peeling‐skin syndrome: Clinical and morphological evidence for two types. In: Traupe H, ed. The Ichthyoses: a guide to clinical diagnosis, genetic counselling, and therapy. Berlin: Springer, 1989:207–10.
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Inflammatory peeling skin disease

• 299  Levy SB, Goldsmith LA. The peeling skin syndrome. J Am Acad Dermatol 1982;7:606–13. Cross Ref link Pubmed link
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• 309  Lundstrom A, Serre G, Haftek M, Egelrud T. Evidence for a role of corneodesmosin, a protein which may serve to modify desmosomes during cornification, in stratum corneum cell cohesion and desquamation. Arch Dermatol Res 1994;286:369–75. Cross Ref link Pubmed link
• 310  Serre G, Mils V, Haftek M, et al. Identification of late differentiation antigens of human cornified epithelia, expressed in re‐organized desmosomes and bound to cross‐linked envelope. J Invest Dermatol 1991;97:1061–72. Cross Ref link Pubmed link
• 311  Simon M, Jonca N, Guerrin M, et al. Refined characterization of corneodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation. J Biol Chem 2001;276:20292–9. Cross Ref link Pubmed link
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• 313  Jonca N, Leclerc EA, Caubet C, et al. Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses. Eur J Dermatol 2011;21:35–42. Pubmed link
• 314  Levy‐Nissenbaum E, Betz RC, Frydman M, et al. Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Nat Genet 2003;34:151–3. Cross Ref link Pubmed link
• 315  Caubet C, Bousset L, Clemmensen O, et al. A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin. FASEB J 2010;24:3416–26. Cross Ref link Pubmed link
• 316  Aras N, Sutman K, Tastan HB, et al. Peeling skin syndrome. J Am Acad Dermatol 1994;30:135–6. Cross Ref link Pubmed link
• 317  Dicken CH. Peeling skin syndrome. J Am Acad Dermatol 1985;13:158–60. Cross Ref link Pubmed link
• 318  Hacham‐Zadeh S, Holubar K. Skin peeling syndrome in a Kurdish family. Arch Dermatol 1985;121:545–6. Cross Ref link Pubmed link
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• 320  Mevorah B, Frenk E, Saurat JH, Siegenthaler G. Peeling skin syndrome: a clinical, ultrastructural and biochemical study. Br J Dermatol 1987;116:117–25. Cross Ref link Pubmed link
• 321  Mevorah B, Salomon D, Siegenthaler G, et al. Ichthyosiform dermatosis with superficial blister formation and peeling: evidence for a desmosomal anomaly and altered epidermal vitamin A metabolism. J Am Acad Dermatol 1996;34:379–85. Cross Ref link Pubmed link
• 322  Farooq M, Kurban M, Abbas O, et al. Netherton syndrome showing a large clinical overlap with generalized inflammatory peeling skin syndrome. Eur J Dermatol 2012;22:412–13. Pubmed link
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• 324  Tsai K, Valente NY, Nico MM. Inflammatory peeling skin syndrome studied with electron microscopy. Pediatr Dermatol 2006;23:488–92. Cross Ref link Pubmed link
• 325  Mizuno Y, Suga Y, Hasegawa T, et al. A case of peeling skin syndrome successfully treated with topical calcipotriol. J Dermatol 2006;33:430–2. Cross Ref link Pubmed link

Acral peeling skin syndrome

• 326  Shwayder T, Conn S, Lowe L. Acral peeling skin syndrome. Arch Derm 1997;133:535–6. Cross Ref link Pubmed link
• 327  Kiritsi D, Cosgarea I, Franzke CW, et al. Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals. J Invest Dermatol 2010;130:1741–6. Cross Ref link Pubmed link
• 328  Fine JD, Bruckner‐Tuderman L, Eady RA, et al. Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification. J Am Acad Dermatol 2014;70:1103–26. Cross Ref link Pubmed link
• 329  Cassidy AJ, van Steensel MA, Steijlen PM, et al. A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. Am J Hum Genet 2005;77:909–17. Cross Ref link Pubmed link
• 330  Pavlovic S, Krunic AL, Bulj TK, et al. Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder. Pediatr Dermatol 2012;29:258–63. Cross Ref link Pubmed link
• 331  Szczecinska W, Nesteruk D, Wertheim‐Tysarowska K, et al. Underrecognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations. Br J Dermatol 2014;171:1206–10. Cross Ref link Pubmed link
• 332  Blaydon DC, Nitoiu D, Eckl KM, et al. Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell–cell adhesion. Am J Hum Genet 2011;89:564–71. Cross Ref link Pubmed link
• 333  Krunic AL, Stone KL, Simpson MA, McGrath JA. Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A. Pediatr Dermatol 2013;30:87–8. Cross Ref link
• 334  Emmerson RW, Wilson‐Jones E. Ringed keratolysis of the palms. Trans St John's Hosp Dermatol Soc 1967;53:165–7.
• 335  Chang YY, van der Velden J, van der Wier G, et al. Keratolysis exfoliativa (dyshidrosis lamellosa sicca): a distinct peeling entity. Br J Dermatol 2012;167:1076–84. Cross Ref link Pubmed link

Neuro‐ichthyotic syndromes

• 336  Rizzo WB, Jenkens SM, Boucher P. Recognition and diagnosis of neuro‐­ichthyotic syndromes. Semin Neurol 2012;32:75–84. Cross Ref link Pubmed link
• 337  Martinelli D, Travaglini L, Drouin CA, et al. MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy. Brain 2013;136:872–81. Cross Ref link Pubmed link

CEDNIK, MEDNIK, ARC, Gaucher disease type II, ELOVL4 deficiency and Stormorken syndrome

• 338  Holleran WM, Ginns EI, Menon GK, et al. Consequences of beta‐glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease. J Clin Invest 1994;93:1756–64. Cross Ref link Pubmed link
• 339  Tsuji S, Choudary PV, Martin BM, et al. A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. N Engl J Med 1987;316:570–5. Cross Ref link Pubmed link
• 340  Sprecher E, Ishida‐Yamamoto A, Mizrahi‐Koren 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;77:242–51. Cross Ref link Pubmed link
• 341  Fuchs‐Telem D, Stewart H, Rapaport D, et al. CEDNIK syndrome results from loss‐of‐function mutations in SNAP29. Br J Dermatol 2011;164:610–16. Pubmed link
• 342  Dereure O. [Differentiating between Mednik and Cednik syndromes.] Ann Dermatol Venereol 2009;136:850–1. Cross Ref link Pubmed link
• 343  Nezelof C, Martin G, Pruvost J. [A fatal syndrome associating a micromelic dwarfism, an ichtyosiform skin disorder and a severe combined immunologic deficiency. Report of a case and survey of the literature (author's transl).] Ann Pediatr (Paris) 1979;26:309–14. Pubmed link
• 344  Gissen P, Johnson CA, Morgan NV, et al. Mutations in VPS33B, encoding a regulator of SNARE‐dependent membrane fusion, cause arthrogryposis–renal ­dysfunction–cholestasis (ARC) syndrome. Nat Genet 2004;36:400–4. Cross Ref link Pubmed link
• 345  Hershkovitz D, Mandel H, Ishida‐Yamamoto A, et al. Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B. Arch Dermatol 2008;144:334–40. Cross Ref link Pubmed link
• 346  Smith H, Galmes R, Gogolina E, et al. Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. Hum Mutat 2012;33:1656–64. Cross Ref link Pubmed link
• 347  Jang JY, Kim KM, Kim GH, et al. Clinical characteristics and VPS33B mutations in patients with ARC syndrome. J Pediatr Gastroenterol Nutr 2009;48:348–54. Cross Ref link Pubmed link
• 348  Dehghani SM, Bahador A, Nikeghbalian S, et al. Liver transplant in a case of arthrogryposis–renal tubular dysfunction–cholestasis syndrome with severe intractable pruritus. Exp Clin Transplant 2013;11:290–2. Cross Ref link Pubmed link
• 349  Montpetit A, Cote S, Burstein E, et al. Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord. Proc Natl Acad Sci USA 2009;4:e1000296.
• 350  Aldahmesh MA, Mohamed JY, Alkuraya HS, et al. Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. Am J Hum Genet 2011;89:745–50. Cross Ref link Pubmed link
• 351  Mir H, Raza SI, Touseef M, et al. A novel recessive mutation in the gene ELOVL4 causes a neuro‐ichthyotic disorder with variable expressivity. BMC Med Genet 2014;26;15:25.
• 352  Giroux JM, Barbeau A. Erythrokeratodermia with ataxia. Arch Dermatol 1972;106:183–8. Cross Ref link Pubmed link
• 353  Cadieux‐Dion M, Turcotte‐Gauthier M, Noreau A, et al. Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French‐Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. JAMA Neurol 2014;71:470–5. Cross Ref link Pubmed link
• 354  Stormorken H, Sjaastad O, Langslet A, et al. A new syndrome: thrombocytopathia, muscle fatigue, asplenia, miosis, migraine, dyslexia and ichthyosis. Clin Genet 1985;28:367–74. Cross Ref link Pubmed link
• 355  Misceo D, Holmgren A, Louch WE, et al. A dominant STIM1 mutation causes Stormorken syndrome. Hum Mutat 2014;35:556–64. Cross Ref link Pubmed link
• 356  Morin G, Bruechle NO, Singh AR, et al. Gain‐of‐function mutation in STIM1 (p.R304W) is associated with Stormorken Syndrome. Hum Mutat 2014;35:1221–32. Cross Ref link Pubmed link

Refsum disease

• 357  Kahlke W, Richterich R. Refsum's disease (herecopathia a tactica polyneuritiformis): an inborn error of lipid metabolism with storage of 3,7,11,15‐tetramethyl hexadecanoic acid. II. Isolation and identification of the storage product. Am J Med 1965;39:237–41. Cross Ref link Pubmed link
• 358  Jansen GA, Hogenhout EM, Ferdinandusse S, et al. Human phytanoyl‐CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease. Hum Mol Genet 2000;9:1195–200. Cross Ref link Pubmed link
• 359  van den Brink DM, Brites P, Haasjes J, et al. Identification of PEX7 as the second gene involved in Refsum disease. Am J Hum Genet 2003;72:471–7. Cross Ref link Pubmed link
• 360  Horn MA, van den Brink DM, Wanders RJ, et al. Phenotype of adult Refsum disease due to a defect in peroxin 7. Neurology 2007;68:698–700. Cross Ref link Pubmed link
• 361  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;23:209–18. Cross Ref link Pubmed link
• 362  Scotto JM, Hadchouel M, Odievre M, et al. Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases, including ultrastructural studies of the liver. J Inherit Metab Dis 1982;5(2):83–90. Cross Ref link Pubmed link
• 363  Poll‐The BT, Saudubray JM, Ogier HA, et al. Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy. Eur J Pediatr 1987 Sep;146(5):477–83. Cross Ref link Pubmed link
• 364  Ramsay BC, Meeran K, Woodrow D, et al. Cutaneous aspects of Refsum's disease. J R Soc Med 1991 Sep;84(9):559–60. Pubmed link
• 365  Kohlschütter A, Santer R, Lukacs Z, et al. A child with night blindness: preventing serious symptoms of Refsum disease. J Child Neurol 2012;27:654–6. Cross Ref link Pubmed link
• 366  Zolotov D, Wagner S, Kalb K, et al. Long‐term strategies for the treatment of Refsum's disease using therapeutic apheresis. J Clin Apher 2012;27:99–105. Cross Ref link Pubmed link

Multiple sulphatase deficiency

• 367  Artigalás OA, da Silva LR, Burin M, et al. Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient. Metab Brain Dis 2009;24:493–500. Cross Ref link Pubmed link
• 368  Dierks T, Dickmanns A, Preusser‐Kunze A, et al. Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine‐generating enzyme. Cell 2005;121:541–52. Cross Ref link Pubmed link
• 369  Busche A, Hennermann JB, Bürger F, et al. Neonatal manifestation of multiple sulfatase deficiency. Eur J Pediatr 2009;168:969–73. Cross Ref link Pubmed link
• 370  Schlotawa L, Ennemann EC, Radhakrishnan K, et al. SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency. Eur J Hum Genet 2011;19:253–61 Cross Ref link Pubmed link
• 371  Loffeld A, Gray RG, Green SH, et al. Mild ichthyosis in a 4‐year‐old boy with multiple sulphatase deficiency. Br J Dermatol 2002;147:353–5. Cross Ref link Pubmed link

Sjögren–Larsson syndrome

• 372  Rizzo WB, Dammann AL, Craft DA. Sjögren–Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase activity. J Clin Invest 1988;81:738–44. Cross Ref link Pubmed link
• 373  Willemsen MA, Rotteveel JJ, de Jong JG, et al. Defective metabolism of leukotriene B4 in the Sjögren–Larsson syndrome. J Neurol Sci 2001;183:61–7. Cross Ref link Pubmed link
• 374  Willemsen MA, Lutt MA, Steijlen PM, et al. Clinical and biochemical effects of zileuton in patients with the Sjögren–Larsson syndrome. Eur J Pediatr 2001;160:711–17. Cross Ref link Pubmed link
• 375  Rizzo WB. Sjögren–Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency. Mol Genet Metab 2007;90:1–9. Cross Ref link Pubmed link
• 376  De Laurenzi V, Rogers GR, Hamrock DJ, et al. Sjögren–Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nat Genet 1996;12:52–7. Cross Ref link Pubmed link
• 377  Rizzo WB, Carney G. Sjögren–Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2). Hum Mutat 2005;26:1–10. Cross Ref link Pubmed link
• 378  Fuijkschot J, Cruysberg JR, Willemsen MA, et al. Subclinical changes in the juvenile crystalline macular dystrophy in Sjögren–Larsson syndrome detected by optical coherence tomography. Ophthalmology 2008;115:870–5. Cross Ref link Pubmed link
• 379  Gånemo A, Jagell S, Vahlquist A. Sjögren–Larsson syndrome: a study of clinical symptoms and dermatological treatment in 34 Swedish patients. Acta Derm Venereol 2009;89:68–73. Cross Ref link Pubmed link
• 380  Kathuria S, Arora S, Ramesh V. Sjögren–Larsson syndrome: importance of early diagnosis and aggressive physiotherapy. Dermatol Online J 2012 Sep 15;18(9):11. Pubmed link
• 381  Gloerich J, Ijlst L, Wanders RJ, Ferdinandusse S. Bezafibrate induces FALDH in human fibroblasts; implications for Sjögren–Larsson syndrome. Mol Genet Metab 2006;89:111–15. Cross Ref link Pubmed link

Keratitis–ichthyosis–deafness

• 382  Richard G, Rouan F, Willoughby CE, et al. Missense mutations in GJB2 encoding connexin‐26 cause the ectodermal dysplasia keratitis–ichthyosis–deafness syndrome. Am J Hum Genet 2002;70:1341–8. Cross Ref link Pubmed link
• 383  van Steensel MA, van Geel M, Nahuys M, et al. A novel connexin 26 mutation in a patient diagnosed with keratitis–ichthyosis–deafness syndrome. J Invest Dermatol 2002;118:724–7. Cross Ref link Pubmed link
• 384  van Geel M, van Steensel MA, Küster W, et al. HID and KID syndromes are associated with the same connexin 26 mutation. Br J Dermatol 2002;146:938–42. Cross Ref link Pubmed link
• 385  de Zwart‐Storm EA, Hamm H, Stoevesandt J, et al. A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. J Med Genet 2008;45:161–6. Cross Ref link Pubmed link
• 386  Easton JA, Donnelly S, Kamps MA, et al. Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations. J Invest Dermatol 2012;132:2184–91. Cross Ref link Pubmed link
• 387  Lazic T, Li Q, Frank M, et al. Extending the phenotypic spectrum of keratitis–ichthyosis–deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings. Pediatr Dermatol 2012;29:349–57. Cross Ref link Pubmed link
• 388  Yotsumoto S, Hashiguchi T, Chen X, et al. Novel mutations in GJB2 encoding connexin‐26 in Japanese patients with keratitis–ichthyosis–deafness syndrome. Br J Dermatol 2003;148:649–53. Cross Ref link Pubmed link
• 389  Mazereeuw‐Hautier J, Bitoun E, Chevrant‐Breton J, et al. Keratitis–ichthyosis–deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients. Br J Dermatol 2007;156:1015–19. Cross Ref link Pubmed link
• 390  Mhaske PV, Levit NA, Li L, et al. The human Cx26‐D50A and Cx26‐A88V mutations causing keratitis–ichthyosis–deafness syndrome display increased hemichannel activity. Am J Physiol Cell Physiol 2013;304:1150–8. Cross Ref link
• 391  Grob JJ, Breton A, Bonafe JL, et al. Keratitis, ichthyosis and deafness (kid) syndrome: vertical transmission and death from multiple squamous cell carcinomas. Arch Dermatol 1987;123:777–82. Cross Ref link Pubmed link
• 392  Mazereeuw‐Hautier J, Bitoun E, Chevrant‐Breton J, et al. Keratitis–ichthyosis–deafness syndrome: disease expression and spectrum of connexion 26 (GJB2) mutations in 14 patients. Br J Dermatol 2007;156:1015–19. Cross Ref link Pubmed link
• 393  Lancaster L, Fournet LF. Carcinoma of the tongue in a child. J Oral Maxillofac Surg 1969;27:269–70.
• 394  Baden EP, Alper JC. Ichthyosiform dermatosis, keratitis and deafness. Arch Dermatol 1977;113:1701–4. Cross Ref link Pubmed link
• 395  Grob JJ, Breton A, Bonafe JL, et al. Keratitis, ichthyosis and deafness (kid) syndrome: vertical transmission and death from multiple squamous cell carcinomas. Arch Dermatol 1987;123:777–82. Cross Ref link Pubmed link
• 396  Kim K‐H, Kim J‐S, Piao Y‐J, et al. Keratitis ichthyosis and deafness syndrome with development of multiple hair follicle tumours. Br J Dermatol 2002;147:139–43. Cross Ref link Pubmed link
• 397  Nyquist GG, Mumm C, Grau R, et al. Malignant proliferating pilar tumours arising in KID syndrome: a report of two patients. Am J Med Genet 2007;143:734–41. Cross Ref link
• 398  Aloi FG, Pippione M. Porokeratotic eccrine ostial and dermal duct nevus. Arch Dermatol 1986;122:892–5. Cross Ref link Pubmed link
• 399  Smyth CM, Sinnathuray AR, Hughes AE, Toner JG. Cochlear implantation in keratitis–ichthyosis–deafness syndrome: 10‐year follow‐up of two patients. Cochlear Implants Int 2012;13:54–9. Cross Ref link Pubmed link
• 400  Messmer EM, Kenyon KR, Rittinger O, et al. Ocular manifestations of keratitis–ichthyosis–deafness (KID) syndrome. Ophthalmology 2005;112:1–6. Cross Ref link Pubmed link
• 401  Coggshall K, Farsani T, Ruben B, et al. Keratitis, ichthyosis, and deafness syndrome: a review of infectious and neoplastic complications. J Am Acad Dermatol 2013;69:127–34. Cross Ref link Pubmed link
• 402  Hazen PG, Carney JM, Langston RH, Meisler DM. Corneal effect of isotretinoin: possible exacerbation of corneal neovascularization in a patient with the keratitis, ichthyosis, deafness (“KID”) syndrome. J Am Acad Dermatol 1986;14:141–2. Cross Ref link Pubmed link
• 403  Prasad SC, Bygum A. Successful treatment with alitretinoin of dissecting cellulitis of the scalp in keratitis–ichthyosis–deafness syndrome. Acta Derm Venereol 2013;93:473–4. Cross Ref link Pubmed link