Epidermolytic hyperkeratosis: clinical update

References

• Oji V, Tadini G, Akiyama M, et al. Revised nomenclature and classification of inherited ichthyoses: results of the first ichthyosis consensus conference in soreze 2009. J Am Acad Dermatol. 2010;63(4):607–641. doi:10.1016/j.jaad.2009.11.02020643494
   PubMed Web of Science ®Google Scholar
• Müller FB, Huber M, Kinaciyan T, et al. A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. Hum Mol Genet. 2006;15(7):1133–1141. doi:10.1093/hmg/ddl02816505000
   PubMed Web of Science ®Google Scholar
• Goldsmith LAJPMG. The ichthyosis. Prog Med Genet. 1976;1:185–240.935508
   PubMedGoogle Scholar
• Esterly NBJP. The ichthyosiform dermatoses. Pediatrics. 1968;42(6):990–1004.4178361
   PubMed Web of Science ®Google Scholar
• Hirone TJM. Electron microscopic studies of ichthyosis and congenital ichthyosiform erythroderma. J Electron Microsc (Tokyo). 1969;18(1):63–72.5812157
   PubMedGoogle Scholar
• Ishibashi Y, Klingmüller G. Erythrodermia ichthyosiformis congenita bullosa Brocq. Über die sogenannte granulöse Degeneration. Arch Dermatol Res. 1968;233(1):11–32.
   Web of Science ®Google Scholar
• Klaus S, Weinstein GD, Frost P. Localized epidermolytic hyperkeratosis: a form of keratoderma of the palms and soles. Arch Dermatol. 1970;101(3):272–275.5414885
   PubMedGoogle Scholar
• Schnyder U. Inherited ichthyoses. Arch Dermatol. 1970;102(3):240–252.4247927
   PubMedGoogle Scholar
• Gutierrez JA, Hannoush ZC, Vargas LG, et al. A novel nonsense mutation in keratin 10 causes a familial case of recessive epidermolytic ichthyosis. Mol Genet Genomic Med. 2013;1(2):108–112. doi:10.1002/mgg3.623957016
   PubMedGoogle Scholar
• Bonifas JM, Bare JW, Chen MA, et al. Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12. J Invest Dermatol. 1992;99(5):524–527.1385543
   PubMed Web of Science ®Google Scholar
• Rothnagel J, Dominey A, Dempsey L, et al. Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science. 1992;257(5073):1128–1130.1380725
   PubMed Web of Science ®Google Scholar
• Ackerman ABJAD. Histopathologic concept of epidermolytic hyperkeratosis. Arch Dermatol. 1970;102(3):253–259.5456015
   PubMedGoogle Scholar
• Anton-Lamprecht I. Genetically induced abnormalities of epidermal differentiation and ultrastructure in ichthyoses and epidermolyses: pathogenesis, heterogeneity, fetal manifestation, and prenatal diagnosis. J Invest Dermatol. 1983;81:S149–S156.
   Web of Science ®Google Scholar
• Williams ML, Elias P. Genetically transmitted, generalized disorders of cornification: the ichthyoses. Dermatol Clin. 1987;5(1):155–178.3549075
   PubMed Web of Science ®Google Scholar
• Cheng J, Syder AJ, Yu Q-C, Letal A, Paller AS, Fuchs EJC. The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes. Cell. 1992;70(5):811–819.1381287
   PubMed Web of Science ®Google Scholar
• Ishida-Yamamoto A, McGrath JA, Judge MR, Leigh IM, Lane EB, Eady R. Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). J Invest Dermatol. 1992;99:1.
   Web of Science ®Google Scholar
• Chipev CC, Yang J-M, DiGiovanna JJ, et al. Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis. Am J Hum Genet. 1994;54(2):179.7508181
   PubMed Web of Science ®Google Scholar
• Nishikawa N, Tanizawa Y, Tanaka S, Horiguchi Y, Matsuno H, Asakura T. pH dependence of the coiled-coil structure of keratin intermediate filament in human hair by 13 C NMR spectroscopy and the mechanism of its disruption. Polym J. 1998;30(2):125.
   Web of Science ®Google Scholar
• Steinert PM, Roop D. Molecular and cellular biology of intermediate filaments. Annu Rev Biochem. 1988;57(1):593–625. doi:10.1146/annurev.bi.57.070188.0031133052284
   PubMed Web of Science ®Google Scholar
• Bader B, Jahn L, Franke W. Low level expression of cytokeratins 8, 18 and 19 in vascular smooth muscle cells of human umbilical cord and in cultured cells derived therefrom, with an analysis of the chromosomal locus containing the cytokeratin 19 gene. Eur J Cell Biol. 1988;47(2):300–319.2468493
   PubMed Web of Science ®Google Scholar
• Lessin SR, Huebner K, Isobe M, Croce CM, Steinert P. Chromosomal mapping of human keratin genes: evidence of non-linkage. J Invest Dermatol. 1988;91(6):572–578.2461420
   PubMed Web of Science ®Google Scholar
• Popescu N, Bowden P, DiPaolo J. Two type II keratin genes are localized on human chromosome 12. Hum Genet. 1989;82(2):109–112.2470667
   PubMed Web of Science ®Google Scholar
• Rosenberg M, Fuchs E, Le Beau M, Eddy R, Shows TJC, Research G. Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12. Cytogenet Cell Genet. 1991;57(1):33–38. doi:10.1159/0001331091713141
   PubMedGoogle Scholar
• Coulombe PA, Fuchs E. Elucidating the early stages of keratin filament assembly. J Cell Biol. 1990;111(1):153–169.1694855
   PubMed Web of Science ®Google Scholar
• Steinert P. The two-chain coiled-coil molecule of native epidermal keratin intermediate filaments is a type I-type II heterodimer. J Biol Chem. 1990;265(15):8766–8774.1692836
   PubMed Web of Science ®Google Scholar
• Fuchs E, Green HJC. Changes in keratin gene expression during terminal differentiation of the keratinocyte. Cell. 1980;19(4):1033–1042.6155214
   PubMed Web of Science ®Google Scholar
• Roop DR, Hawley-Nelson P, Cheng CK, Yuspa S. Keratin gene expression in mouse epidermis and cultured epidermal cells. Proc Natl Acad Sci U S A. 1983;80(3):716–720.6187003
   PubMed Web of Science ®Google Scholar
• Schweizer J, Kinjo M, Fürstenberger G, Winter HJC. Sequential expression of mRNA-encoded keratin sets in neonatal mouse epidermis: basal cells with properties of terminally differentiating cells. Cell. 1984;37(1):159–170.6202418
   PubMed Web of Science ®Google Scholar
• Woodcock-Mitchell J, Eichner R, Nelson WG, Sun -T-T. Immunolocalization of keratin polypeptides in human epidermis using monoclonal antibodies. J Cell Biol. 1982;95(2):580–588.6183275
   PubMed Web of Science ®Google Scholar
• Anton-Lamprecht I, Schnyder U. Ultrastructure of inborn errors of keratinization. Arch Dermatol Forsch. 1974;250(3):207–227.4607617
   PubMedGoogle Scholar
• Holbrook KA, Dale BA, Sybert VP, Sagebiel R. Epidermolytic hyperkeratosis: ultrastructure and biochemistry of skin and amniotic fluid cells from two affected fetuses and a newborn infant. J Invest Dermatol. 1983;80(4).
   Web of Science ®Google Scholar
• Wilgram GF, Caulfield J. An electron microscopic study of epidermolytic hyperkeratosis: with a special note on the keratinosome as the fourth structural factor in the formation of the horny layer. Arch Dermatol. 1966;94(2):127–143.5911501
   PubMedGoogle Scholar
• Ogawa H, Hattori M, Ishibashi Y. Abnormal fibrous protein isolated from the stratum corneum of a patient with bullous congenital ichthyosiform erythroderma (BCIE). Arch Dermatol Res. 1979;266(2):109–116.160775
   PubMed Web of Science ®Google Scholar
• Kanitakis J, Misery L, Nicolas J, et al. Disseminated superficial porokeratosis in a patient with AIDS. Br J Dermatol. 1994;131(2):284–289.7917997
   PubMed Web of Science ®Google Scholar
• Rothnagel JJCOCB. Keratin 5 has also been implicated as the genetic defect in another family affected with EBS (24).  Cellular Organelles, Volume 2 (Principles of Medical Biology). 1992;4:94.
   Google Scholar
• Bonifas JJJID. Epidermolytic hyperkeratosis: linkage to keratin gene regions on chromosomes 12q and 17q in two families. J Invest Dermatol. 1992;98(573).
   Google Scholar
• Chipev CC, Korge BP, Markova N, et al. A leucine→ proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. Cell. 1992;70(5):821–828.1381288
   PubMed Web of Science ®Google Scholar
• Obu H, Adimora G, Obumneme-Anyim I, Ndu I, Asinobi I. Collodion baby: A report of 4 cases. Niger J Paediatr. 2013;40(3):307–310.
   Google Scholar
• Ross R, DiGiovanna JJ, Capaldi L, Argenyi Z, Fleckman P, Robinson-Bostom L. Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the national registry for ichthyosis and related skin disorders. J Am Acad Dermatol. 2008;59(1):86–90. doi:10.1016/j.jaad.2008.02.03118571597
   PubMed Web of Science ®Google Scholar
• Güzel AI, Tokmak A, Kara AS, AJBJoM Y, Research M. Harlequin Ichthyosis: case Report of a Rare Type of Ichthyosis. BMJ Case Rep. 2015;5(4):557.
   Google Scholar
• Vidyadhar TVVJP. A review on different types of ichthyosis and management. PharmaTutor 2015;3(1):25–31.
   Google Scholar
• Küster WJDA. Ichthyosen: vorschläge für eine verbesserte Therapie. Dtsch Ärztebl 2006;103(24):A1684–A1689.
   Google Scholar
• Rand RE, Baden H. The ichthyoses—a review. J Am Acad Dermatol. 1983;8(3):285–305.6187784
   PubMed Web of Science ®Google Scholar
• Huber M, Rettler I, Bernasconi K, et al. Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science. 1995;267(5197):525–528.7824952
   PubMed Web of Science ®Google Scholar
• Frost P, Weinstein GD, Bothwell JW, Wildnauer R. Ichthyosiform dermatoses: III. Studies of transepidermal water loss. Arch Dermatol. 1968;98(3):230–233.5673882
   PubMedGoogle Scholar
• COOPER MF W, SHUSTER SJBJoD P, SHUSTER SJBJoD P, Shuster S. Acquired ichthyosis and impaired dermal lipogenesis in Hodgkin‘s disease. Br J Dermatol. 1980;102(6):689–693.7426399
   PubMed Web of Science ®Google Scholar
• Glazebrook A, Tomaszewski W. Syphilology. Ichthyosiform atrophy of the skin in hodgkin‘s disease: report of a case, with reference to vitamin A metabolism. Archives of Dermatology and Syphilology. 1944;50(2):85–89.
   Google Scholar
• McCann S, Barry D, Temperley I, Weir D. Ichthyosis and marrow involvement in malignant histiocytosis of the intestine. Br J Haematol. 1981;48(2):281–285.7236527
   PubMed Web of Science ®Google Scholar
• Ronchese F, Gates D. Ichthyosiform atrophy of the skin in Hodgkins disease. N Engl J Med. 1956;255(6):287–289. doi:10.1056/NEJM19560809255060813348855
   PubMed Web of Science ®Google Scholar
• Sneddon IJBMJ. Acquired ichthyosis in Hodgkin‘s disease. J Chronic Dis. 1955;1(4916):763.
   Google Scholar
• Stevanović D. Hodgkin‘s disease of the skin: acquired ichthyosis preceding tumoral and ulcerating lesions for seven years. Arch Dermatol. 1960;82(1):96–99.13834518
   PubMedGoogle Scholar
• Welsh J, Epstein EJJ. Acquired ichthyosis in Hodgkin‘s disease: report of a case. J Am Med Assoc. 1952;148:1221–1223.14907365
   PubMed Web of Science ®Google Scholar
• Fuchs E, Esteves RA, Coulombe PA. Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis. Proc Natl Acad Sci U S A. 1992;89(15):6906–6910.1379726
   PubMed Web of Science ®Google Scholar
• McLean WI. Genetic disorders of palm skin and nail. J Anat. 2003;202(1):133–141.12587928
   PubMed Web of Science ®Google Scholar
• Fuchs E, Coulombe P, Cheng J, Burks AW. Genetic bases of epidermolysis bullosa simplex and epidermolytic hyperkeratosis. Int Arch Allergy Immunol. 1994;103. doi:10.1159/000236606
   Web of Science ®Google Scholar
• Wolf FT, Frredberg IN, Austen KF. Dermatology in General Medicine. 4ta edición ed. New York: McGraw Inc; 1993.
   Google Scholar
• Moll R, Franke WW, Schiller DL, Geiger B, Krepler RJC. The catalog of human cytokeratins. Patterns of Expression in Normal Epithelia, Tumors and Cultured Cells. 1982;31(1):11–24.
   Google Scholar
• Nelson WG, Sun -T-T. The 50-and 58-kdalton keratin classes as molecular markers for stratified squamous epithelia: cell culture studies. J Cell Biol. 1983;97(1):244–251.6190820
   PubMed Web of Science ®Google Scholar
• Roop DR, Huitfeldt H, Kilkenny A, Yuspa SHJD. Regulated expression of differentiation-associated keratins in cultured epidermal cells detected by monospecific antibodies to unique peptides of mouse epidermal keratins. Differentiation. 1987;35(2):143–150.2450799
   PubMed Web of Science ®Google Scholar
• Conway JF, Parry D. Intermediate filament structure: 3. Analysis of sequence homologies. J Biol Macromol. 1988;10(2):79–98.
   Web of Science ®Google Scholar
• Fuchs E, Weber K. Intermediate filaments: structure, dynamics, function and disease. Annu Rev Biochem. 1994;63(1):345–382. doi:10.1146/annurev.bi.63.070194.0020217979242
   PubMed Web of Science ®Google Scholar
• Geisler N, Schünemann J, Weber K. Chemical cross‐linking indicates a staggered and antiparallel protofilament of desmin intermediate filaments and characterizes one higher‐level complex between protofilaments. Eur J Biochem. 1992;206(3):841–852.1606966
   PubMedGoogle Scholar
• Steinert PM, Marekov LN, Fraser RB, Parry D. Keratin intermediate filament structure: crosslinking studies yield quantitative information on molecular dimensions and mechanism of assembly. J Mol Biol. 1993;230(2):436–452. doi:10.1006/jmbi.1993.11617681879
   PubMed Web of Science ®Google Scholar
• Vassar R, Coulombe PA, Degenstein L, Albers K, Fuchs EJC. Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease. Cell. 1991;64(2):365–380.1703046
   PubMed Web of Science ®Google Scholar
• Compton JG, DiGiovanna JJ, Santucci SK, et al. Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q. Nat Genet. 1992;1(4):301.1284546
   PubMed Web of Science ®Google Scholar
• Kimonis V, Yang J-M, Doyle SZ, Bale SJ, Compton JG, DiGiovanna J. A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma. J Invest Dermatol. 1994;103(6):764–769.7528239
   PubMed Web of Science ®Google Scholar
• Pulkkinen L, Christiano AM, Knowlton RG, Uitto J. Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster. J Clin Invest. 1993;91(1):357–361.7678607
   PubMed Web of Science ®Google Scholar
• Reis A, Hennies H-C, Langbein L, et al. Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Nat Genet. 1994;6(2):174.7512862
   PubMed Web of Science ®Google Scholar
• Rogaev EI, Rogaeva EA, Ginter EK, et al. Identification of the genetic locus for keratosis palmaris et plantaris on chromosome 17 near the RARA and keratin type I genes. Nat Genet. 1993;5(2):158.7504553
   PubMed Web of Science ®Google Scholar
• Torchard D, Blanchet-Bardon C, Serova O, et al. Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer. Nat Genet. 1994;6(1):106.7511021
   PubMed Web of Science ®Google Scholar
• Huber M, Scaletta C, Benathan M, et al. Abnormal keratin 1 and 10 cytoskeleton in cultured keratinocytes from epidermolytic hyperkeratosis caused by keratin 10 mutations. J Invest Dermatol. 1994;102(5):691–694.7513736
   PubMed Web of Science ®Google Scholar
• McLean WI, Eady RA, Dopping-Hepenstal PJ, et al. Mutations in the rod 1A domain of keratins 1 and 10 in Bullous Congenital Ichthyosiform Erythoderma (BCIE). J Invest Dermatol. 1994;102(1):24–30.7507152
   PubMed Web of Science ®Google Scholar
• Syder AJ, Yu Q-C, Paller AS, Giudice G, Pearson R, Fuchs E. Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. J Clin Invest. 1994;93(4):1533–1542. doi:10.1172/JCI1171327512983
   PubMed Web of Science ®Google Scholar
• Yang J-M, Chipev CC, DiGiovanna JJ, et al. Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis. J Invest Dermatol. 1994;102(1):17–23.7507151
   PubMed Web of Science ®Google Scholar
• Williams ML, Elias PM. Ichthyosis. Genetic heterogeneity, genodermatoses, and genetic counseling.. Arch Dermatol. 1986;122(5):529–531.3707167
   PubMedGoogle Scholar
• Traupe H. The Ichthyoses: A Guide to Clinical Diagnosis, Genetic Counseling, and Therapy. Berlin, Heidelberg: Springer Science & Business Media; 2012.
   Google Scholar
• Yoneda K. Inherited ichthyosis: syndromic forms. J Dermatol. 2016;43(3):252–263. doi:10.1111/1346-8138.1328426945533
   PubMed Web of Science ®Google Scholar
• Virtanen M, Vahlquist A, Smith SK, Vahlquist A, Bowden PE. Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis. J Invest Dermatol. 2003;121(5):1013–1020. doi:10.1046/j.1523-1747.2003.12534.x14708600
   PubMed Web of Science ®Google Scholar
• Bickenbach JR, Longley MA, Bundman DS, et al. A transgenic mouse model that recapitulates the clinical features of both neonatal and adult forms of the skin disease epidermolytic hyperkeratosis. Differentiation. 1996;61(2):129–139. doi:10.1046/j.1432-0436.1996.6120129.x8983179
   PubMed Web of Science ®Google Scholar
• Chen PJ, Li CX, Wen J, et al. S159P mutation of keratin 10 gene causes severe form of epidermolytic hyperkeratosis. J Eur Acad Dermatol Venereol. 2016;30(10):e102–e104. doi:10.1111/jdv.1334526373619
   PubMed Web of Science ®Google Scholar
• Eskin-Schwartz M, Drozhdina M, Sarig O, et al. 381 Epidermolytic ichthyosis sine epidermolysis. J Invest Dermatol. 2016;136(5):S67.
   Web of Science ®Google Scholar
• Boyden LM, Vincent NG, Zhou J, et al. Mutations in KDSR cause recessive progressive symmetric erythrokeratoderma. Am J Human Genet. 2017;100(6):978–984. doi:10.1016/j.ajhg.2017.05.00328575652
   PubMed Web of Science ®Google Scholar
• Ohno Y, Kamiyama N, Nakamichi S, Kihara A. PNPLA1 is a transacylase essential for the generation of the skin barrier lipid ω-O-acylceramide. Nat Commun. 2017;8:14610. doi:10.1038/ncomms1461028248318
   PubMed Web of Science ®Google Scholar
• Takeichi T, Nomura T, Takama H, et al. Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR 9C7. Br J Dermatol. 2017;177(3):e62–e64. doi:10.1111/bjd.1531528112794
   PubMed Web of Science ®Google Scholar
• Kutkowska-Kaźmierczak A, Rydzanicz M, Chlebowski A, et al. Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features. J Med Genet. 2018;55(6):408–414. doi:10.1136/jmedgenet-2017-10517229496980
   PubMed Web of Science ®Google Scholar
• Terrinoni A, Didona B, Caporali S, et al. Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin. PLoS One. 2018;13(4):e0195792. doi:10.1371/journal.pone.019579229689068
   PubMed Web of Science ®Google Scholar
• Hirt P, Price A, Alwunais K, Schachner L. An interesting case of coincidental epidermolytic hyperkeratosis and erythema annulare centrifugum in the setting of latent tuberculosis in a 12‐year‐old female. Int J Dermatol. 2019. doi:10.1111/ijd.14339
   Web of Science ®Google Scholar
• Diociaiuti A, Fortugno P, El Hachem M, et al. Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutations in keratin 10. Acta Derm Venereol. 2014;94(5):579–582. doi:10.2340/00015555-179624626314
   PubMed Web of Science ®Google Scholar
• Anton-Lamprecht I, Brenner RJ, Williams LW, Burks AW. Ultrastructural identification of basic abnormalities as clues to genetic disorders of the epidermis. Int Arch Allergy Immunol. 1994;103. doi:10.1159/000236606
   Web of Science ®Google Scholar
• Elias PM. Ichthyoses: Clinical, Biochemical, Pathogenic and Diagnostic Assessment. Basel, Switzerland: Karger AG; 2010.
   Google Scholar
• Lin TK, Crumrine D, Ackerman LD, et al. Cellular changes that accompany shedding of human corneocytes. J Invest Dermatol. 2012;132(10):2430–2439. doi:10.1038/jid.2012.17322739796
   PubMed Web of Science ®Google Scholar
• Paller AS, van Steensel MAM, Rodriguez-Martín M, et al. PATHOGENESIS-BASED THERAPY REVERSES CUTANEOUS ABNORMALITIES IN AN INHERITED DISORDER OF DISTAL CHOLESTEROL METABOLISM. J Invest Dermatol. 2011;131(11):2242–2248. doi:10.1038/jid.2011.18921753784
   PubMed Web of Science ®Google Scholar
• Bergman R, Khamaysi Z, Sprecher E. A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma. Am J Dermatopathol. 2008;30(2):101–105. doi:10.1097/DAD.0b013e318161489818360110
   PubMed Web of Science ®Google Scholar
• Eckl KM, de Juanes S, Kurtenbach J, et al. Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. J Invest Dermatol. 2009;129(6):1421–1428. doi:10.1038/jid.2008.40919131948
   PubMed Web of Science ®Google Scholar
• Fischer J. Autosomal recessive congenital ichthyosis. J Invest Dermatol. 2009;129(6):1319–1321. doi:10.1038/jid.2009.5719434086
   PubMed Web of Science ®Google Scholar
• Arnold M-L, Anton-Lamprecht I. Prenatal diagnosis of epidermal disorders In: Prenatal Diagnosis of Heritable Skin Diseases. Vol. 16 Gedde-Dahl Jr T, Wuepper KD, editors. Switzerland: Karger Publishers; 1987:120–128.
   Google Scholar
• Baden H. Keratinizing disorders. Genetic Disorders of the Skin. Alper JC, editor. St Louis: Mosby Yearbook; 1991:170–194.
   Google Scholar
• Sybert VP, Holbrook K. Prenatal diagnosis and screening. Dermatoligic clinics 1987;5(1):17–41.
   Google Scholar
• Williams M. The ichthyoses—pathogenesis and prenatal diagnosis: a review of recent advances. Pediatr Dermatol. 1983;1(1):1–24.6208542
   PubMedGoogle Scholar
• Elias S. Use of fetoscopy for the prenatal diagnosis of hereditary skin disorders In: Prenatal Diagnosis of Heritable Skin Diseases. Vol. 16 Basel, Switzerland; Karger Publishers; 1987:1–13.
   Google Scholar
• Holbrook KA, Wolff K. The structure and development of skin. In: Fitzpatrick TB, Eisen AZ, Wolff K, et al, editors. Dermatology in general medicine. 4th ed. New York: McGraw-Hill; 1993:159–171.
   Google Scholar
• Perry TB, Holbrook KA, Hoff MS, Hamilton EF, Senikas V, Fisher C. Prenatal diagnosis of congenital non‐bullous ichthyosiform erythroderma (lamellar ichthyosis). Prenat Diagn. 1987;7(3):145–155.3588535
   PubMed Web of Science ®Google Scholar
• Richard G. Molecular genetics of the ichthyoses. Am J Med Genet. 2004;131C:32–44. doi:10.1002/ajmg.c.30032
   Google Scholar
• Prashanth Panta C-W-L, Kumar P, Tuan-Shu H, et al. Optical coherence tomography: emerging in vivo optical biopsy technique for oral cancer In: Oral Cancer Detection. Springer Nature; 2018.
   Google Scholar
• Kumar P, Cm K. Optical Techniques: Investigations in Oral Cancers. 1 ed. Springer; 2019.
   Google Scholar
• Bhattacharjee T, Kumar P, Fillipe L Automated pre-processing and multivariate vibrational spectra analysis software for rapid results in clinical settings. Paper presented at: Optical Biopsy XVI: Toward Real-Time Spectroscopic Imaging and Diagnosis 2018, San Francisco, CA.
   Google Scholar
• Kumar P. Raman spectroscopy as a promising noninvasive tool in brain cancer detection. J Innov Opt Health Sci. 2017;10(05):1730012. doi:10.1142/S1793545817300129
   Google Scholar
• Kumar P, Bhattacharjee T, Pandey M, Hole AR, Ingle A, Murali Krishna C. Raman spectroscopy in experimental oral carcinogenesis: investigation of abnormal changes in control tissues. J Raman Spectrosc. 2016;47:11. doi:10.1002/jrs.4977
   Web of Science ®Google Scholar
• Kumar P, Bhattacharjee T, Ingle A, Maru G, Krishna CM. Raman spectroscopy of experimental oral carcinogenesis: study on sequential cancer progression in hamster buccal pouch model. Technol Cancer Res Treat. 2016;15(5):NP60–72. doi:10.1177/153303461559862226272064
   PubMed Web of Science ®Google Scholar
• Dalal K, Elanchezhiyan D, Maran VB, et al. Optical, spectroscopic, and Doppler evaluation of “normal” and “abnormal” reflexology areas in lumbar vertebral pathology: a case study. Case Rep Med. 2012;2012:904729. doi:10.1155/2012/90472923365581
   PubMedGoogle Scholar
• Sahu A, Yélamos O, Iftimia N, et al. Evaluation of a combined reflectance confocal microscopy–optical coherence tomography device for detection and depth assessment of basal cell carcinoma. JAMA Dermatol. 2018. doi:10.1001/jamadermatol.2018.2446
   Web of Science ®Google Scholar
• Lima AMF, Daniel CR, Navarro RS, et al. Discrimination of non-melanoma skin cancer and keratosis from normal skin tissue in vivo and ex vivo by Raman spectroscopy. Vib Spectrosc. 2019;100:131–141. doi:10.1016/j.vibspec.2018.11.009
   Web of Science ®Google Scholar
• Vahlquist A, Ganemo A, Virtanen M. Congenital ichthyosis: an overview of current and emerging therapies. Acta Derm Venereol. 2008;88(1):4–14. doi:10.2340/00015555-041518176742
   PubMed Web of Science ®Google Scholar
• Hernandez-Martin A, Aranegui B, Martin-Santiago A, Garcia-Doval I. A systematic review of clinical trials of treatments for the congenital ichthyoses, excluding ichthyosis vulgaris. J Am Acad Dermatol. 2013;69(4):544–549.e548. doi:10.1016/j.jaad.2013.05.01723870202
   PubMed Web of Science ®Google Scholar
• Digiovanna JJ, Mauro T, Milstone LM, Schmuth M, Toro JR. Systemic retinoids in the management of ichthyoses and related skin types. Dermatol Ther. 2013;26(1):26–38. doi:10.1111/j.1529-8019.2012.01527.x23384018
   PubMed Web of Science ®Google Scholar
• Tomita Y, Akiyama M, Shimizu H. Stratum corneum hydration and flexibility are useful parameters to indicate clinical severity of congenital ichthyosis. Exp Dermatol. 2005;14(8):619–624. doi:10.1111/j.0906-6705.2005.00341.x16026584
   PubMed Web of Science ®Google Scholar
• Vahlquist A, Gånemo A, Virtanen M. Congenital ichthyosis: an overview of current and emerging therapies. Acta Derm Venereol. 2008;88(1):4–14. doi:10.2340/00015555-041518176742
   PubMed Web of Science ®Google Scholar
• Long MC. Ichthyosis with confetti: a rare diagnosis and treatment plan. BMJ Case Rep. 2014;2014:bcr2014204509. doi:10.1136/bcr-2014-204509
   Google Scholar
• Lykkesfeldt G, Hyer H. TOPICAL CHOLESTEROL TREATMENT OF RECESSIVE X-LINKED ICHTHYOSIS. Lancet. 1983;322(8363):1337–1338. doi:10.1016/S0140-6736(83)91093-0
   Web of Science ®Google Scholar
• Chamlin SL, Kao J, Frieden IJ, et al. Ceramide-dominant barrier repair lipids alleviate childhood atopic dermatitis: changes in barrier function provide a sensitive indicator of disease activity. J Am Acad Dermatol. 2002;47(2):198–208.12140465
   PubMed Web of Science ®Google Scholar
• Gånemo A, Virtanen M, Vahlquist A. Improved topical treatment of lamellar ichthyosis: a double-blind study of four different cream formulations. Br J Dermatol. 1999;141(6):1027–1032.10606847
   PubMed Web of Science ®Google Scholar
• Kiistala R, Lauharanta J, Kanerva L. Transepidermal water loss and sweat gland response in lamellar ichthyosis before and during treatment with etretinate: report of three cases. Acta Derm Venereol. 1982;62(3):268–270.6179379
   PubMed Web of Science ®Google Scholar
• Stege H, Hofmann B, Ruzicka T, Lehmann P. Topical application of tazarotene in the treatment of nonerythrodermic lamellar ichthyosis. Arch Dermatol. 1998;134(5):640–641.9606345
   PubMedGoogle Scholar
• Redondo P, Bauzá A. Topical N-acetylcysteine for lamellar ichthyosis. Lancet. 1999;354(9193):1880. doi:10.1016/S0140-6736(99)04245-210584733
   PubMed Web of Science ®Google Scholar
• Sarici SU, Sahin M, Yurdakök M. Topical N-acetylcysteine treatment in neonatal ichthyosis. Turk J Pediatr. 2003;45(3):245–247.14696804
   PubMed Web of Science ®Google Scholar
• Bogenrieder T, Landthaler M, Stolz W. Bullous Congenital Ichthyosiform Erythroderma: Safe and Effective Topical Treatment with Calcipotriol Ointment in a Child. Vol. 83 2003.
   Google Scholar
• Kerkhof PCM. Biological activity of vitamin D analogues in the skin, with special reference to antipsoriatic mechanisms. Br J Dermatol. 1995;132(5):675–682.7772470
   PubMed Web of Science ®Google Scholar
• Lucker GPH, Kerkhof PCM, Mr DÏJK, Steijlen PM. Effect of topical calcipotriol on congenital ichthyoses. Br J Dermatol. 1994;131(4):546–550.7947208
   PubMed Web of Science ®Google Scholar
• Loden M, Maibach HI. Dry Skin and Moisturizers: Chemistry and Function. Taylor & Francis; 1999.
   Google Scholar
• Melnik B, Glück S, Jungblut RM, Goerz G. Retrospective radiographic study of skeletal changes after long-term etretinate therapy. Br J Dermatol. 1987;116(2):207–212.3828215
   PubMed Web of Science ®Google Scholar
• Roos TC, Jugert FK, Merk HF, Bickers DR. Retinoid Metabolism in the Skin. Pharmacol Rev. 1998;50(2):315–333.9647871
   PubMed Web of Science ®Google Scholar
• Steijlen PM, Dooren-Greebe RJ, Kerkhof PCM. Acitretin in the treatment of lamellar ichthyosis. Br J Dermatol. 1994;130(2):211–214.8123574
   PubMed Web of Science ®Google Scholar
• Katsambas AD, Lotti TM, Dessinioti C, D‘Erme AM. European Handbook of Dermatological Treatments. Springer Berlin Heidelberg; 2015.
   Google Scholar
• Virtanen M, Gedde-Dahl T, Mörk JN, Leigh I, Bowden PE, Vahlquist A. Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression. Acta Derm Venereol. 2001;81:163-170.
   Web of Science ®Google Scholar
• McLean WH, Morley SM, Lane EB, et al. Ichthyosis Bullosa of Siemens–A Disease Involving Keratin 2e. J Invest Dermatol. 1994;103(3):277–281.7521371
   PubMed Web of Science ®Google Scholar
• Steijlen PM, Doorkn-Greebe RJ, Happle R, Kerkhof PCM. Ichthyosis bullosa of Siemens responds well to low-dosage oral retinoids. Br J Dermatol. 1991;125(5):469–471.1836350
   PubMed Web of Science ®Google Scholar
• Stoppie P, Borgers M, Borghgraef P, et al. R115866 inhibits all-trans -retinoic acid metabolism and exerts retinoidal effects in rodents. J Pharmacol Exp Ther. 2000;293(1):304–312.10734183
   PubMed Web of Science ®Google Scholar
• Stern RS. When a uniquely effective drug is teratogenic. Mass Medical Soc. 1989.
   Google Scholar
• Fogh K, Voorhees JJ, Astrom A. Expression, purification, and binding properties of human cellular retinoic acid-binding protein type I and type II. Arch Biochem Biophys. 1993;300(2):751–755. doi:10.1006/abbi.1993.11048382035
   PubMed Web of Science ®Google Scholar
• Allenby G, Bocquel M-T, Saunders M, et al. Retinoic acid receptors and retinoid X receptors: interactions with endogenous retinoic acids. Proc National Acad Sci. 1993;90(1):30–34. doi:10.1073/pnas.90.1.30
   PubMed Web of Science ®Google Scholar
• Tsukada M, Schröder M, Orfanos CE, et al. 13-cis retinoic acid exerts its specific activity on human sebocytes through selective intracellular isomerization to all-trans retinoic acid and binding to retinoid acid receptors. J Investig Dermatol. 2000;115(2):321–327. doi:10.1046/j.1523-1747.2000.00066.x10951254
   PubMed Web of Science ®Google Scholar
• Dalziel K, Barton S, Marks R. The effects of isotretinoin on follicular and sebaceous gland differentiation. Br J Dermatol. 1987;117(3):317–323.2960370
   PubMed Web of Science ®Google Scholar
• Shwayder T, Ott F. All about ichthyosis. Pediatr Clin North Am. 1991;38(4):835–857.1870908
   PubMed Web of Science ®Google Scholar
• Buxman M, Hickman J, Ragsdale W, Stretcher G, Krochmal L, Wehr R. Therapeutic activity of lactate 12% lotion in the treatment of ichthyosis: active versus vehicle and active versus a petrolatum cream. J Am Acad Dermatol. 1986;15(6):1253–1258.3543073
   PubMed Web of Science ®Google Scholar