vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v21i5.2459vsp-3032Research ArticleОБЗОРЫ ЛИТЕРАТУРЫLITERATURE REVIEWВрожденный ихтиоз: клинико-генетические характеристики заболеванияCongenital Ichthyosis: Clinical and Genetic Characteristics of the Diseasehttps://orcid.org/0000-0003-2252-8570МурашкинН. Н.MurashkinNikolay N.

Москва

Moscow

https://orcid.org/0000-0002-7335-6329АветисянК. О.AvetisyanKarine O.

Аветисян Карине Ониковна - врач аллерголог-иммунолог.

119296, Москва, Ломоносовский пр-т, д. 2, стр. 1,  тел.: +7 (495) 967-14-20

Moscow

avetisyan.karine@mail.ruhttps://orcid.org/0000-0002-0081-0981ИвановР. А.IvanovRoman A.

Москва

Moscow

https://orcid.org/0000-0002-3056-403XМакароваC. Г.MakarovaSvetlana G.

Москва

Moscow

НМИЦ здоровья детей; Первый МГМУ им. И.М. Сеченова (Сеченовский Университет); ЦГМА Управления делами Президента РФРоссияNational Medical Research Center of Children’s Health; Sechenov First Moscow State Medical University; Central State Medical Academy of Department of Presidential AffairsRussian FederationНМИЦ здоровья детейРоссияNational Medical Research Center of Children’s HealthRussian FederationНМИЦ здоровья детей; ЦГМА Управления делами Президента РФРоссияNational Medical Research Center of Children’s Health; Central State Medical Academy of Department of Presidential AffairsRussian FederationНМИЦ здоровья детей; РНИМУ им. Н.И. ПироговаРоссияNational Medical Research Center of Children’s Health; Pirogov Russian National Research Medical UniversityRussian Federation202207112022215362377Copyright © Мурашкин Н.Н., Аветисян К.О., Иванов Р.А., Макарова C.Г., 20222022Мурашкин Н.Н., Аветисян К.О., Иванов Р.А., Макарова C.Г.Murashkin N.N., Avetisyan K.O., Ivanov R.A., Makarova S.G.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vsp.spr-journal.ru/jour/article/view/3032

Врожденный ихтиоз — группа (почти 100 клинических вариантов) редких генетических кожных заболеваний, возникающих в результате патогенных изменений в более чем 50 генах. Клиническими признаками, характеризующими ихтиоз независимо от генетической основы, являются сухость кожи, шелушение, гиперкератоз, часто сочетающиеся с эритродермией. Больные имеют чрезвычайно низкое качество жизни вследствие изменения внешнего вида, дискомфорта в связи с зудом и функциональными ограничениями (боль при ходьбе, нарушение моторики и двигательной функции по причине развития очагов гиперкератоза в функционально значимых зонах), а также нарушения функций различных органов и систем при синдромальных формах заболевания. Пациенты нуждаются в ежедневном уходе за кожей и приеме системных препаратов. До настоящего времени не существует эффективных методов лечения ихтиоза. Диагностические трудности при определении клинических форм врожденного ихтиоза обусловлены, с одной стороны, их клинической гетерогенностью, а с другой — сходством внешних проявлений. Трудности дифференциальной диагностики с другими дерматозами особенно актуальны при синдромальной форме заболевания. В настоящем обзоре представлена современная классификация ихтиозов, приведены данные о клинико-генетических вариантах заболевания, диагностических алгоритмах, принятых подходах к терапии больных с этим тяжелым недугом.

Congenital ichthyosis is a group (almost 100 clinical variants) of rare genetic skin diseases caused by pathogenic changes in more than 50 genes. Clinical features of ichthyosis, regardless of its genotype, are dry skin, peeling, hyperkeratosis frequently accompanied with erythroderma. These patients have extremely low quality of life due to changes in appearance, discomfort due to itching and functional limitations (pain during walking, impaired motor skills and functions due to hyperkeratosis foci in functionally relevant areas), as well as impaired functions of various organs and systems in syndromic forms of disease. Patients need daily skin care and systemic medications. By now, there is no definitive treatment for ichthyosis. Diagnostic difficulties in determining the clinical forms of congenital ichthyosis are associated with their clinical heterogeneity and with similarity in external manifestations. Difficulties in differential diagnosis with other dermatoses are particularly crucial in case of syndromic forms of disease. This review presents the modern classification of ichthyoses, provides data on disease clinical and genetic variants, diagnostic algorithms, treatment methods for patients with this severe disease.

врожденный ихтиоздетиклиникапатогенные вариантыгеныдиагностикалечениеcongenital ichthyosischildrenclinical findingspathogenic variantsgenesdiagnosistreatmentОтсутствуетNot specifiedReferencesOji 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(4):607–641. doi: https://doi.org/10.1016/j.jaad.2009.11.020Oji 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(4):607–641. doi: https://doi.org/10.1016/j.jaad.2009.11.020Vahlquist A, Törmä H. Ichthyosis: A Road Model for Skin Research. Acta Derm Venereol. 2020;100(7):adv00097. doi: https://doi.org/10.2340/00015555-3433Vahlquist A, Törmä H. Ichthyosis: A Road Model for Skin Research. Acta Derm Venereol. 2020;100(7):adv00097. doi: https://doi.org/10.2340/00015555-3433Sun Q, Burgren NM, Cheraghlou S, et al. The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds. JAMA Dermatol. 2022;158(1):16–25. doi: https://doi.org/10.1001/jamadermatol.2021.4242Sun Q, Burgren NM, Cheraghlou S, et al. The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds. JAMA Dermatol. 2022;158(1):16–25. doi: https://doi.org/10.1001/jamadermatol.2021.4242Kim Y, Lim KM. Skin barrier dysfunction and filaggrin. Arch Pharm Res. 2021;44(1):36–48. doi: https://doi.org/10.1007/s12272-021-01305-xKim Y, Lim KM. Skin barrier dysfunction and filaggrin. Arch Pharm Res. 2021;44(1):36–48. doi: https://doi.org/10.1007/s12272-021-01305-xИхтиоз у детей: клинические рекомендации. — Союз педиатров России; 2016. — С. 6.Ikhtioz u detei: clinical guidelines. Union of Pediatricians of Russia; 2016. p. 6. (In Russ).Mazereeuw-Hautier J, Vahlquist A, Traupe H, et al. Management of congenital ichthyoses: European guidelines of care, part one. Br J Dermatol. 2019;180(2):272–281. doi: https://doi.org/10.1111/bjd.17203Mazereeuw-Hautier J, Vahlquist A, Traupe H, et al. Management of congenital ichthyoses: European guidelines of care, part one. Br J Dermatol. 2019;180(2):272–281. doi: https://doi.org/10.1111/bjd.17203Dabas G, Mahajan R, De D, et al. Managing syndromic congenital ichthyosis at a tertiary care institute-Genotype-phenotype correlations, and novel treatments. Dermatol Ther. 2020; 33(6):e13816. doi: https://doi.org/10.1111/dth.13816Dabas G, Mahajan R, De D, et al. Managing syndromic congenital ichthyosis at a tertiary care institute-Genotype-phenotype correlations, and novel treatments. Dermatol Ther. 2020; 33(6):e13816. doi: https://doi.org/10.1111/dth.13816Takeichi T, Akiyama M. Inherited ichthyosis: Non-syndromic forms. J Dermatol. 2016;43(3):242–251. doi: https://doi.org/10.1111/1346-8138.13243Takeichi T, Akiyama M. Inherited ichthyosis: Non-syndromic forms. J Dermatol. 2016;43(3):242–251. doi: https://doi.org/10.1111/1346-8138.13243Paller AS, Renert-Yuval Y, Suprun M, et al. An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis. J Allergy Clin Immunol. 2017;139(1):152–165. doi: https://doi.org/10.1016/j.jaci.2016.07.019Paller AS, Renert-Yuval Y, Suprun M, et al. An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis. J Allergy Clin Immunol. 2017;139(1):152–165. doi: https://doi.org/10.1016/j.jaci.2016.07.019Fischer J, Bourrat E. Genetics of Inherited Ichthyoses and Related Diseases. Acta Derm Venereol. 2020;100(7):adv00096. doi: https://doi.org/10.2340/00015555-3432Fischer J, Bourrat E. Genetics of Inherited Ichthyoses and Related Diseases. Acta Derm Venereol. 2020;100(7):adv00096. doi: https://doi.org/10.2340/00015555-3432Mohamad J, Samuelov L, Malchin N, et al. Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population. Exp Dermatol. 2021;30(9):1290–1297. doi: https://doi.org/10.1111/exd.14345Mohamad J, Samuelov L, Malchin N, et al. Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population. Exp Dermatol. 2021;30(9):1290–1297. doi: https://doi.org/10.1111/exd.14345Richard G, Choate K, Milstone L, Bale S. Management of ichthyosis and related conditions gene-based diagnosis and emerging gene-based therapy. Dermatol Ther. 2013;26(1):55–68. doi: https://doi.org/10.1111/j.1529-8019.2012.01553.xRichard G, Choate K, Milstone L, Bale S. Management of ichthyosis and related conditions gene-based diagnosis and emerging gene-based therapy. Dermatol Ther. 2013;26(1):55–68. doi: https://doi.org/10.1111/j.1529-8019.2012.01553.xVahlquist A, Fischer J, Törmä H. Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment. Am J Clin Dermatol. 2018;19(1):51–66. doi: https://doi.org/10.1007/s40257-017-0313-xVahlquist A, Fischer J, Törmä H. Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment. Am J Clin Dermatol. 2018;19(1):51–66. doi: https://doi.org/10.1007/s40257-017-0313-xFischer J. Autosomal recessive congenital ichthyosis. J Invest Dermatol. 2009;129(6):1319–1321. doi: https://doi.org/10.1038/jid.2009.57Fischer J. Autosomal recessive congenital ichthyosis. J Invest Dermatol. 2009;129(6):1319–1321. doi: https://doi.org/10.1038/jid.2009.57Bourrat 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(10):1191–1195. doi: https://doi.org/10.1001/archdermatol.2012.1947Bourrat 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(10):1191–1195. doi: https://doi.org/10.1001/archdermatol.2012.1947Marukian NV, Hu RH, Craiglow BG, et al. Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis. JAMA Dermatol. 2017;153(6):537–543. doi: https://doi.org/10.1001/jamadermatol.2017.0202Marukian NV, Hu RH, Craiglow BG, et al. Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis. JAMA Dermatol. 2017;153(6):537–543. doi: https://doi.org/10.1001/jamadermatol.2017.0202Kiely C, Devaney D, Fischer J, et al. Ichthyosis prematurity syndrome: a case report and review of known mutations. Pediatr Dermatol. 2014;31(4):517–518. doi: https://doi.org/10.1111/pde.12320Kiely C, Devaney D, Fischer J, et al. Ichthyosis prematurity syndrome: a case report and review of known mutations. Pediatr Dermatol. 2014;31(4):517–518. doi: https://doi.org/10.1111/pde.12320Seidl-Philipp M, Schatz UA, Gasslitter I, et al. Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017. J Dtsch Dermatol Ges. 2020;18(1):17–25. doi: https://doi.org/10.1111/ddg.13968Seidl-Philipp M, Schatz UA, Gasslitter I, et al. Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017. J Dtsch Dermatol Ges. 2020;18(1):17–25. doi: https://doi.org/10.1111/ddg.13968Blunder S, Kõks S, Kõks G, et al. Enhanced Expression of Genes Related to Xenobiotic Metabolism in the Skin of Patients with Atopic Dermatitis but Not with Ichthyosis Vulgaris. J Invest Dermatol. 2018;138(1):98–108. doi: https://doi.org/10.1016/j.jid.2017.08.036Blunder S, Kõks S, Kõks G, et al. Enhanced Expression of Genes Related to Xenobiotic Metabolism in the Skin of Patients with Atopic Dermatitis but Not with Ichthyosis Vulgaris. J Invest Dermatol. 2018;138(1):98–108. doi: https://doi.org/10.1016/j.jid.2017.08.036Richard G. Autosomal Recessive Congenital Ichthyosis. In: GeneReviews® [Internet]. Adam MP, Mirzaa GM, Pagon RA, et al, eds. Seattle (WA): University of Washington, Seattle; 1993–2022. Available online: https://www.ncbi.nlm.nih.gov/books/NBK1420. Accessed on October 27, 2022.Richard G. Autosomal Recessive Congenital Ichthyosis. In: GeneReviews® [Internet]. Adam MP, Mirzaa GM, Pagon RA, et al, eds. Seattle (WA): University of Washington, Seattle; 1993–2022. Available online: https://www.ncbi.nlm.nih.gov/books/NBK1420. Accessed on October 27, 2022.Traupe H, Fischer J, Oji V. Nonsyndromic types of ichthyoses — an update. J Dtsch Dermatol Ges. 2014;12(2):109–121. doi: https://doi.org/10.1111/ddg.12229Traupe H, Fischer J, Oji V. Nonsyndromic types of ichthyoses — an update. J Dtsch Dermatol Ges. 2014;12(2):109–121. doi: https://doi.org/10.1111/ddg.12229Youssefian L, Vahidnezhad H, Saeidian AH, et al. Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families. Hum Mutat. 2019;40(3):288–298. doi: https://doi.org/10.1002/humu.23695Youssefian L, Vahidnezhad H, Saeidian AH, et al. Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families. Hum Mutat. 2019;40(3):288–298. doi: https://doi.org/10.1002/humu.23695Sugiura K, Akiyama M. Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis. J Dermatol Sci. 2015;79(1):4–9. doi: https://doi.org/10.1016/j.jdermsci.2015.04.009Sugiura K, Akiyama M. Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis. J Dermatol Sci. 2015;79(1):4–9. doi: https://doi.org/10.1016/j.jdermsci.2015.04.009Simpson JK, Martinez-Queipo M, Onoufriadis A, et al. Genotypephenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis. Br J Dermatol. 2020;182(3): 729–737. doi: https://doi.org/10.1111/bjd.18211Simpson JK, Martinez-Queipo M, Onoufriadis A, et al. Genotypephenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis. Br J Dermatol. 2020;182(3): 729–737. doi: https://doi.org/10.1111/bjd.18211Elias PM, Williams ML, Feingold KR. Abnormal barrier function in the pathogenesis of ichthyosis: therapeutic implications for lipid metabolic disorders. Clin Dermatol. 2012;30(3):311–322. doi: https://doi.org/10.1016/j.clindermatol.2011.08.017Elias PM, Williams ML, Feingold KR. Abnormal barrier function in the pathogenesis of ichthyosis: therapeutic implications for lipid metabolic disorders. Clin Dermatol. 2012;30(3):311–322. doi: https://doi.org/10.1016/j.clindermatol.2011.08.017Zhang H, Ericsson M, Weström S, et al. Patients with congenital ichthyosis and TGM1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response? Exp Dermatol. 2019;28(10):1164–1171. doi: https://doi.org/10.1111/exd.13813Zhang H, Ericsson M, Weström S, et al. Patients with congenital ichthyosis and TGM1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response? Exp Dermatol. 2019;28(10):1164–1171. doi: https://doi.org/10.1111/exd.13813Anker P, Kiss N, Kocsis I, et al. Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype. Life (Basel). 2021;11(7):624. doi: https://doi.org/10.3390/life11070624Anker P, Kiss N, Kocsis I, et al. Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype. Life (Basel). 2021;11(7):624. doi: https://doi.org/10.3390/life11070624Scott CA, Rajpopat S, Di WL. Harlequin ichthyosis: ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin-barrier dysfunction. Cell Tissue Res. 2013;351(2):281–288. doi: https://doi.org/10.1007/s00441012-1474-9Scott CA, Rajpopat S, Di WL. Harlequin ichthyosis: ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin-barrier dysfunction. Cell Tissue Res. 2013;351(2):281–288. doi: https://doi.org/10.1007/s00441012-1474-9Elkhatib AM, Omar M. Ichthyosis Fetalis. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022. Available online: https://www.ncbi.nlm.nih.gov/books/NBK560492. Accessed on October 27, 2022.Elkhatib AM, Omar M. Ichthyosis Fetalis. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022. Available online: https://www.ncbi.nlm.nih.gov/books/NBK560492. Accessed on October 27, 2022.Akiyama M. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts. Hum Mutat. 2010;31(10): 1090–1096. doi: https://doi.org/10.1002/humu.21326Akiyama M. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts. Hum Mutat. 2010;31(10): 1090–1096. doi: https://doi.org/10.1002/humu.21326Ahmad F, Ahmed I, Alam Q, et al. Variants in the PNPLA1 Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance. Mol Syndromol. 2021;12(6):351–361. doi: https://doi.org/10.1159/000516943Ahmad F, Ahmed I, Alam Q, et al. Variants in the PNPLA1 Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance. Mol Syndromol. 2021;12(6):351–361. doi: https://doi.org/10.1159/000516943Esperón-Moldes U, Ginarte Val M, Rodríguez-Pazos L, et al. Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect. Acta Derm Venereol. 2019;99(10):894–898. doi: https://doi.org/10.2340/00015555-3227Esperón-Moldes U, Ginarte Val M, Rodríguez-Pazos L, et al. Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect. Acta Derm Venereol. 2019;99(10):894–898. doi: https://doi.org/10.2340/00015555-3227Yamamoto M, Sassa T, Kyono Y, et al. Comprehensive stratum corneum ceramide profiling reveals reduced acylceramides in ichthyosis patient with CERS3 mutations. J Dermatol. 2021;48(4):447–456. doi: https://doi.org/10.1111/13468138.15725Yamamoto M, Sassa T, Kyono Y, et al. Comprehensive stratum corneum ceramide profiling reveals reduced acylceramides in ichthyosis patient with CERS3 mutations. J Dermatol. 2021;48(4):447–456. doi: https://doi.org/10.1111/13468138.15725Hotz A, Oji V, Bourrat E, et al. Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis. Acta Derm Venereol. 2016;96(4):473–478. doi: https://doi.org/10.2340/00015555-2299Hotz A, Oji V, Bourrat E, et al. Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis. Acta Derm Venereol. 2016;96(4):473–478. doi: https://doi.org/10.2340/00015555-2299Mo R, Lin M, Lee M, et al. Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads. J Eur Acad Dermatol Venereol. 2022;36(10):1857–1862. doi: https://doi.org/10.1111/jdv.18189Mo R, Lin M, Lee M, et al. Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads. J Eur Acad Dermatol Venereol. 2022;36(10):1857–1862. doi: https://doi.org/10.1111/jdv.18189Sato J, Denda M, Nakanishi J, et al. Cholesterol sulfate inhibits proteases that are involved in desquamation of stratum corneum. J Invest Dermatol. 1998;111(2):189–193. doi: https://doi.org/10.1046/j.1523-1747.1998.00244.xSato J, Denda M, Nakanishi J, et al. Cholesterol sulfate inhibits proteases that are involved in desquamation of stratum corneum. J Invest Dermatol. 1998;111(2):189–193. doi: https://doi.org/10.1046/j.1523-1747.1998.00244.xFozia F, Nazli R, Alam Khan S, et al. Novel Homozygous Mutations in the Genes TGM1, SULT2B1, SPINK5 and FLG in Four Families Underlying Congenital Ichthyosis. Genes (Basel). 2021;12(3):373. doi: https://doi.org/10.3390/genes12030373Fozia F, Nazli R, Alam Khan S, et al. Novel Homozygous Mutations in the Genes TGM1, SULT2B1, SPINK5 and FLG in Four Families Underlying Congenital Ichthyosis. Genes (Basel). 2021;12(3):373. doi: https://doi.org/10.3390/genes12030373Borská R, Pinková B, Réblová K, et al. Inherited ichthyoses: molecular causes of the disease in Czech patients. Orphanet J Rare Dis. 2019;14(1):92. doi: https://doi.org/10.1186/s13023-019-1076-7Borská R, Pinková B, Réblová K, et al. Inherited ichthyoses: molecular causes of the disease in Czech patients. Orphanet J Rare Dis. 2019;14(1):92. doi: https://doi.org/10.1186/s13023-019-1076-7Ilchyshyn A, Goldstraw N, Cork MJ, et al. Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis. Br J Dermatol. 2020;182(3):729–737. doi: https://doi.org/10.1111/bjd.18211Ilchyshyn A, Goldstraw N, Cork MJ, et al. Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis. Br J Dermatol. 2020;182(3):729–737. doi: https://doi.org/10.1111/bjd.18211Frommherz L, Krause A, Kopp J, et al. High rate of self-improving phenotypes in children with non-syndromic congenital ichthyosis: case series from south-western Germany. J Eur Acad Dermatol Venereol. 2021;35(11):2293–2299. doi: https://doi.org/10.1111/jdv.17524Frommherz L, Krause A, Kopp J, et al. High rate of self-improving phenotypes in children with non-syndromic congenital ichthyosis: case series from south-western Germany. J Eur Acad Dermatol Venereol. 2021;35(11):2293–2299. doi: https://doi.org/10.1111/jdv.17524Hake L, Süßmuth K, Komlosi K, et al. Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis. J Eur Acad Dermatol Venereol. 2022;36(4):582–591. doi: https://doi.org/10.1111/jdv.17873Hake L, Süßmuth K, Komlosi K, et al. Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis. J Eur Acad Dermatol Venereol. 2022;36(4):582–591. doi: https://doi.org/10.1111/jdv.17873Vahlquist 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(2):438–443. doi: https://doi.org/10.1038/jid.2009.346Vahlquist 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(2):438–443. doi: https://doi.org/10.1038/jid.2009.346Diociaiuti A, Angioni A, Pisaneschi E, et al. X-linked ichthyosis: Clinical and molecular findings in 35 Italian patients. Exp Derm atol. 2019;28(10):1156–1163. doi: https://doi.org/10.1111/exd.13667Diociaiuti A, Angioni A, Pisaneschi E, et al. X-linked ichthyosis: Clinical and molecular findings in 35 Italian patients. Exp Derm atol. 2019;28(10):1156–1163. doi: https://doi.org/10.1111/exd.13667Emmert H, Baurecht H, Thielking F, et al. Stratum corneum lipidomics analysis reveals altered ceramide profile in atopic dermatitis patients across body sites with correlated changes in skin microbiome. Exp Dermatol. 2021;30(10):1398–1408. doi: https://doi.org/10.1111/exd.14185Emmert H, Baurecht H, Thielking F, et al. Stratum corneum lipidomics analysis reveals altered ceramide profile in atopic dermatitis patients across body sites with correlated changes in skin microbiome. Exp Dermatol. 2021;30(10):1398–1408. doi: https://doi.org/10.1111/exd.14185Hotz A, Kopp J, Bourrat E, et al. Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients. Genes (Basel). 2021;12(1):80. doi: https://doi.org/10.3390/genes12010080Hotz A, Kopp J, Bourrat E, et al. Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients. Genes (Basel). 2021;12(1):80. doi: https://doi.org/10.3390/genes12010080Ennouri M, Zimmer AD, Bahloul E, et al. Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation. BMC Med Genomics. 2022;15(1):4. doi: https://doi.org/10.1186/s12920-021-01154-zEnnouri M, Zimmer AD, Bahloul E, et al. Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation. BMC Med Genomics. 2022;15(1):4. doi: https://doi.org/10.1186/s12920-021-01154-zChamcheu JC, Siddiqui IA, Syed DN, et al. Keratin gene mutations in disorders of human skin and its appendages. Arch Biochem Biophys. 2011;508(2):123–137. doi: https://doi.org/10.1016/j.abb.2010.12.019Chamcheu JC, Siddiqui IA, Syed DN, et al. Keratin gene mutations in disorders of human skin and its appendages. Arch Biochem Biophys. 2011;508(2):123–137. doi: https://doi.org/10.1016/j.abb.2010.12.019Diociaiuti A, Castiglia D, Corbeddu M, et al. First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses. Int J Mol Sci. 2020;21(20):7707. doi: https://doi.org/10.3390/ijms21207707Diociaiuti A, Castiglia D, Corbeddu M, et al. First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses. Int J Mol Sci. 2020;21(20):7707. doi: https://doi.org/10.3390/ijms21207707Oji V. Clinical presentation and etiology of ichthyoses. Overview of the new nomenclature and classification. Hautarzt. 2010;61(10):891–902; quiz 903–904. doi: https://doi.org/10.1007/s00105-010-2018-4Oji V. Clinical presentation and etiology of ichthyoses. Overview of the new nomenclature and classification. Hautarzt. 2010;61(10):891–902; quiz 903–904. doi: https://doi.org/10.1007/s00105-010-2018-4Smith FJD, Kreuser-Genis IM, Jury CS, et al. Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma. Clin Exp Dermatol. 2019;44(5): 528–534. doi: https://doi.org/10.1111/ced.13800Smith FJD, Kreuser-Genis IM, Jury CS, et al. Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma. Clin Exp Dermatol. 2019;44(5): 528–534. doi: https://doi.org/10.1111/ced.13800Ang-Tiu CU, Nicolas ME. Ichthyosis bullosa of Siemens. J Dermatol Case Rep. 2012;6(3):78–81. doi: https://doi.org/10.3315/jdcr.2012.1107Ang-Tiu CU, Nicolas ME. Ichthyosis bullosa of Siemens. J Dermatol Case Rep. 2012;6(3):78–81. doi: https://doi.org/10.3315/jdcr.2012.1107Li Y, Cheng R, Liang J, et al. The first case of a mosaic superficial epidermolytic ichthyosis diagnosed by Ultra-Deep Sequence. Mol Genet Genomic Med. 2020;8(11):e1457. doi: https://doi.org/10.1002/mgg3.1457Li Y, Cheng R, Liang J, et al. The first case of a mosaic superficial epidermolytic ichthyosis diagnosed by Ultra-Deep Sequence. Mol Genet Genomic Med. 2020;8(11):e1457. doi: https://doi.org/10.1002/mgg3.1457Reolid A, Carrasco L, Noguera-Morel L, et al. Annular epidermolytic ichthyosis: An exceptional mild subtype of epidermolytic ichthyosis without genotype and phenotype correlation. JAAD Case Rep. 2019;6(1):46–50. doi: https://doi.org/10.1016/j.jdcr.2019.10.026Reolid A, Carrasco L, Noguera-Morel L, et al. Annular epidermolytic ichthyosis: An exceptional mild subtype of epidermolytic ichthyosis without genotype and phenotype correlation. JAAD Case Rep. 2019;6(1):46–50. doi: https://doi.org/10.1016/j.jdcr.2019.10.026Aĭvazian AA. Acicular ichthyosis (the Curth-Macklin type). Vestn Dermatol Venerol. 1990;(9):64–67.Aĭvazian AA. Acicular ichthyosis (the Curth-Macklin type). Vestn Dermatol Venerol. 1990;(9):64–67.Cook-Norris R, Shook BA, Wells MJ, Stetson CL. Seborrheic distributed papules with palmoplantar hyperkeratosis — quiz case. Diagnosis: Ichthyosis hystrix, Curth-Macklin type. Arch Dermatol. 2005;141(6):779–784. doi: https://doi.org/10.1001/archderm.141.6.779-bCook-Norris R, Shook BA, Wells MJ, Stetson CL. Seborrheic distributed papules with palmoplantar hyperkeratosis — quiz case. Diagnosis: Ichthyosis hystrix, Curth-Macklin type. Arch Dermatol. 2005;141(6):779–784. doi: https://doi.org/10.1001/archderm.141.6.779-bGutierrez 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: https://doi.org/10.1002/mgg3.6Gutierrez 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: https://doi.org/10.1002/mgg3.6Adya KA, Inamadar AC, Janagond AB, Palit A. Epidermolytic Nevus: An Instance of Mosaic Epidermolytic Ichthyosis. Indian Dermatol Online J. 2020;11(2):272–273. doi: https://doi.org/10.4103/idoj.IDOJ_254_19Adya KA, Inamadar AC, Janagond AB, Palit A. Epidermolytic Nevus: An Instance of Mosaic Epidermolytic Ichthyosis. Indian Dermatol Online J. 2020;11(2):272–273. doi: https://doi.org/10.4103/idoj.IDOJ_254_19Guerra L, Diociaiuti A, El Hachem M, et al. Ichthyosis with confetti: clinics, molecular genetics and management. Orphanet J Rare Dis. 2015;10:115. doi: https://doi.org/10.1186/s13023015-0336-4Guerra L, Diociaiuti A, El Hachem M, et al. Ichthyosis with confetti: clinics, molecular genetics and management. Orphanet J Rare Dis. 2015;10:115. doi: https://doi.org/10.1186/s13023015-0336-4Nomura T. Recombination-induced revertant mosaicism in ichthyosis with confetti and loricrin keratoderma. J Dermatol Sci. 2020;97(2):94–100. doi: https://doi.org/10.1016/j.jdermsci.2019.12.013Nomura T. Recombination-induced revertant mosaicism in ichthyosis with confetti and loricrin keratoderma. J Dermatol Sci. 2020;97(2):94–100. doi: https://doi.org/10.1016/j.jdermsci.2019.12.013Shah M, Baral S, Adhikari RC. Erythrokeratoderma variabilis (EKV) — First Nepalese case documenting GJB3 mutation. Skin Health Dis. 2021;1(4):e63. doi: https://doi.org/10.1002/ski2.63Shah M, Baral S, Adhikari RC. Erythrokeratoderma variabilis (EKV) — First Nepalese case documenting GJB3 mutation. Skin Health Dis. 2021;1(4):e63. doi: https://doi.org/10.1002/ski2.63Teye K, Hamada T, Krol RP, et al. Homozygous deletion of six genes including corneodesmosin on chromosome 6p21.3 is associated with generalized peeling skin disease. J Dermatol Sci. 2014;75(1):36–42. doi: https://doi.org/10.1016/j.jdermsci.2014.04.003Teye K, Hamada T, Krol RP, et al. Homozygous deletion of six genes including corneodesmosin on chromosome 6p21.3 is associated with generalized peeling skin disease. J Dermatol Sci. 2014;75(1):36–42. doi: https://doi.org/10.1016/j.jdermsci.2014.04.003Utsumi D, Yasuda M, Amano H, et al. Hair abnormality in Netherton syndrome observed under polarized light microscopy. J Am Acad Dermatol. 2020;83(3):847–853. doi: https://doi.org/10.1016/j.jaad.2019.08.024Utsumi D, Yasuda M, Amano H, et al. Hair abnormality in Netherton syndrome observed under polarized light microscopy. J Am Acad Dermatol. 2020;83(3):847–853. doi: https://doi.org/10.1016/j.jaad.2019.08.024Sarri CA, Roussaki-Schulze A, Vasilopoulos Y, et al. Netherton Syndrome: A Genotype-Phenotype Review. Mol Diagn Ther. 2017;21(2):137–152. doi: https://doi.org/10.1007/s40291016-0243-ySarri CA, Roussaki-Schulze A, Vasilopoulos Y, et al. Netherton Syndrome: A Genotype-Phenotype Review. Mol Diagn Ther. 2017;21(2):137–152. doi: https://doi.org/10.1007/s40291016-0243-ySillanpää V, Soratto TAT, Eränkö E, et al. Skin Microbiota and Clinical Associations in Netherton Syndrome. JID Innov. 2021;1(2): 100008. doi: https://doi.org/10.1016/j.xjidi.2021.100008Sillanpää V, Soratto TAT, Eränkö E, et al. Skin Microbiota and Clinical Associations in Netherton Syndrome. JID Innov. 2021;1(2): 100008. doi: https://doi.org/10.1016/j.xjidi.2021.100008Hashimoto S, Takanari H, Compe E, Egly JM. Dysregulation of LXR responsive genes contribute to ichthyosis in trichothiodyst rophy. J Dermatol Sci. 2020;97(3):201–207. doi: https://doi.org/10.1016/j.jdermsci.2020.01.012Hashimoto S, Takanari H, Compe E, Egly JM. Dysregulation of LXR responsive genes contribute to ichthyosis in trichothiodyst rophy. J Dermatol Sci. 2020;97(3):201–207. doi: https://doi.org/10.1016/j.jdermsci.2020.01.012Jambhekar SD, Dhongade AR. Tay syndrome. Indian J Pediatr. 2008;75(3):288–290. doi: https://doi.org/10.1007/s12098-008-0062-1Jambhekar SD, Dhongade AR. Tay syndrome. Indian J Pediatr. 2008;75(3):288–290. doi: https://doi.org/10.1007/s12098-008-0062-1Youssefian L, Touati A, Saeidian AH, et al. A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome. Orphanet J Rare Dis. 2017;12(1):176. doi: https://doi.org/10.1186/s13023-017-0728-8Youssefian L, Touati A, Saeidian AH, et al. A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome. Orphanet J Rare Dis. 2017;12(1):176. doi: https://doi.org/10.1186/s13023-017-0728-8Nagtzaam IF, Peeters VPM, Vreeburg M, et al. Novel CLDN1 mutation in ichthyosis-hypotrichosis-sclerosing cholangitis syndrome without signs of liver disease. Br J Dermatol. 2018;178(3): e202–e203. doi: https://doi.org/10.1111/bjd.15996Nagtzaam IF, Peeters VPM, Vreeburg M, et al. Novel CLDN1 mutation in ichthyosis-hypotrichosis-sclerosing cholangitis syndrome without signs of liver disease. Br J Dermatol. 2018;178(3): e202–e203. doi: https://doi.org/10.1111/bjd.15996Poojary S, Shah KS, Bhalala KB, Hegde AU. CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene. Pediatr Dermatol. 2019;36(3):372–376. doi: https://doi.org/10.1111/pde.13761Poojary S, Shah KS, Bhalala KB, Hegde AU. CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene. Pediatr Dermatol. 2019;36(3):372–376. doi: https://doi.org/10.1111/pde.13761Karunakaran S, Thomas B, Menon R, et al. CErebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma (CEDNIK) Syndrome with Brain Stem Malformation. Ann Indian Acad Neurol. 2021;24(6): 979–981. doi: https://doi.org/10.4103/aian.AIAN_673_20Karunakaran S, Thomas B, Menon R, et al. CErebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma (CEDNIK) Syndrome with Brain Stem Malformation. Ann Indian Acad Neurol. 2021;24(6): 979–981. doi: https://doi.org/10.4103/aian.AIAN_673_20Fuchs-Telem D, Stewart H, Rapaport D, et al. CEDNIK syndrome results from loss-of-function mutations in SNAP29. Br J Dermatol. 2011;164(3):610–616. doi: https://doi.org/10.1111/j.1365-2133.2010.10133.xFuchs-Telem D, Stewart H, Rapaport D, et al. CEDNIK syndrome results from loss-of-function mutations in SNAP29. Br J Dermatol. 2011;164(3):610–616. doi: https://doi.org/10.1111/j.1365-2133.2010.10133.xCakmak E, Alagozlu H, Yonem O, et al. Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation. Clin Res Hepatol Gastroenterol. 2012;36(2):e34–e37. doi: https://doi.org/10.1016/j.clinre.2011.12.007Cakmak E, Alagozlu H, Yonem O, et al. Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation. Clin Res Hepatol Gastroenterol. 2012;36(2):e34–e37. doi: https://doi.org/10.1016/j.clinre.2011.12.007van Steensel MA, van Geel M, Nahuys M, et al. A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosisdeafness syndrome. J Invest Dermatol. 2002;118(4):724–727. doi: https://doi.org/10.1046/j.1523-1747.2002.01735.xvan Steensel MA, van Geel M, Nahuys M, et al. A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosisdeafness syndrome. J Invest Dermatol. 2002;118(4):724–727. doi: https://doi.org/10.1046/j.1523-1747.2002.01735.xAsgari T, Naji M, Mansouri P, et al. Keratitis-ichthyosis-deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation. Dermatol Ther. 2020;33(6):e14493. doi: https://doi.org/10.1111/dth.14493Asgari T, Naji M, Mansouri P, et al. Keratitis-ichthyosis-deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation. Dermatol Ther. 2020;33(6):e14493. doi: https://doi.org/10.1111/dth.14493Coggshall 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(1):127–134. doi: https://doi.org/10.1016/j.jaad.2012.12.965Coggshall 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(1):127–134. doi: https://doi.org/10.1016/j.jaad.2012.12.965Vornweg J, Gläser S, Ahmad-Anwar M, et al. Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis-ichthyosis-deafness (KIDAR) syndrome. Br J Dermatol. 2021;184(6):1190–1192. doi: https://doi.org/10.1111/bjd.19815Vornweg J, Gläser S, Ahmad-Anwar M, et al. Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis-ichthyosis-deafness (KIDAR) syndrome. Br J Dermatol. 2021;184(6):1190–1192. doi: https://doi.org/10.1111/bjd.19815Alter S, Hotz A, Jahn A, et al. Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome. Am J Med Genet A. 2018;176(12):2862–2866. doi: https://doi.org/10.1002/ajmg.a.40634Alter S, Hotz A, Jahn A, et al. Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome. Am J Med Genet A. 2018;176(12):2862–2866. doi: https://doi.org/10.1002/ajmg.a.40634Faghihi F, Khamirani HJ, Zoghi S, et al. Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1. Eur J Med Genet. 2022;65(3): 104449. doi: https://doi.org/10.1016/j.ejmg.2022.104449Faghihi F, Khamirani HJ, Zoghi S, et al. Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1. Eur J Med Genet. 2022;65(3): 104449. doi: https://doi.org/10.1016/j.ejmg.2022.104449Bindu PS. Sjogren-Larsson Syndrome: Mechanisms and Management. Appl Clin Genet. 2020;13:13–24. doi: https://doi.org/10.2147/TACG.S193969Bindu PS. Sjogren-Larsson Syndrome: Mechanisms and Management. Appl Clin Genet. 2020;13:13–24. doi: https://doi.org/10.2147/TACG.S193969Del Brío Castillo R, Squires JE, McKiernan PJ. A novel mutation in VPS33B gene causing a milder ARC syndrome phenotype with prolonged survival. JIMD Rep. 2019;47(1):4–8. doi: https://doi.org/10.1002/jmd2.12027Del Brío Castillo R, Squires JE, McKiernan PJ. A novel mutation in VPS33B gene causing a milder ARC syndrome phenotype with prolonged survival. JIMD Rep. 2019;47(1):4–8. doi: https://doi.org/10.1002/jmd2.12027Ito Y, Takeichi T, Igari S, et al. MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1. J Eur Acad Dermatol Venereol. 2021;35(5):e345–e347. doi: https://doi.org/10.1111/jdv.17098Ito Y, Takeichi T, Igari S, et al. MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1. J Eur Acad Dermatol Venereol. 2021;35(5):e345–e347. doi: https://doi.org/10.1111/jdv.17098Waterham HR, Wanders RJA, Leroy BP. Adult Refsum Disease. In: GeneReviews® [Internet]. Adam MP, Mirzaa GM, Pagon RA, et al., eds. Seattle (WA): University of Washington, Seattle; 1993–2022. Available online: https://www.ncbi.nlm.nih.gov/books/NBK1353. Accessed on October 27, 2022.Waterham HR, Wanders RJA, Leroy BP. Adult Refsum Disease. In: GeneReviews® [Internet]. Adam MP, Mirzaa GM, Pagon RA, et al., eds. Seattle (WA): University of Washington, Seattle; 1993–2022. Available online: https://www.ncbi.nlm.nih.gov/books/NBK1353. Accessed on October 27, 2022.Staretz-Chacham O, Schlotawa L, Wormser O, et al. A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency. Mol Genet Genomic Med. 2020;8(9):e1167. doi: https://doi.org/10.1002/mgg3.1167Staretz-Chacham O, Schlotawa L, Wormser O, et al. A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency. Mol Genet Genomic Med. 2020;8(9):e1167. doi: https://doi.org/10.1002/mgg3.1167Wei M, Han A, Wei L, Ma L. A Neonatal Case With Perinatal Lethal Gaucher Disease Associated With Missense G234E and H413P Heterozygous Mutations. Front Pediatr. 2019;7:201. doi: https://doi.org/10.3389/fped.2019.00201Wei M, Han A, Wei L, Ma L. A Neonatal Case With Perinatal Lethal Gaucher Disease Associated With Missense G234E and H413P Heterozygous Mutations. Front Pediatr. 2019;7:201. doi: https://doi.org/10.3389/fped.2019.00201Irurzun I, Natale MI, Agostinelli ML, et al. Ichthyosis follicularis, atrichia and photophobia (IFAP) and hereditary mucoepithelial dysplasia: Two syndromes that share a common clinical spectrum. Pediatr Dermatol. 2021;38(3):568–574. doi: https://doi.org/10.1111/pde.14560Irurzun I, Natale MI, Agostinelli ML, et al. Ichthyosis follicularis, atrichia and photophobia (IFAP) and hereditary mucoepithelial dysplasia: Two syndromes that share a common clinical spectrum. Pediatr Dermatol. 2021;38(3):568–574. doi: https://doi.org/10.1111/pde.14560Al Mandhari H, Al-Musalhi B, Al Mahroqi N, et al. Ichthyosis prematurity syndrome in two Omani siblings, caused by homozygous c.1A > G mutation in the FATP4 gene. Int J Dermatol. 2021;60(3): 368–371. doi: https://doi.org/10.1111/ijd.15367Al Mandhari H, Al-Musalhi B, Al Mahroqi N, et al. Ichthyosis prematurity syndrome in two Omani siblings, caused by homozygous c.1A > G mutation in the FATP4 gene. Int J Dermatol. 2021;60(3): 368–371. doi: https://doi.org/10.1111/ijd.15367George R, Santhanam S, Samuel R, et al. Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene — a case report from India. Clin Case Rep. 2015;4(1):87–89. doi: https://doi.org/10.1002/ccr3.462George R, Santhanam S, Samuel R, et al. Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene — a case report from India. Clin Case Rep. 2015;4(1):87–89. doi: https://doi.org/10.1002/ccr3.462van Leersum FS, Seyger MMB, Theunissen TEJ, et al. Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma. Br J Dermatol. 2020;182(1):208–211. doi: https://doi.org/10.1111/bjd.18216van Leersum FS, Seyger MMB, Theunissen TEJ, et al. Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma. Br J Dermatol. 2020;182(1):208–211. doi: https://doi.org/10.1111/bjd.18216Ramphul K, Kota V, Mejias SG. Child Syndrome. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022. Available online: https://www.ncbi.nlm.nih.gov/books/NBK507813. Accessed on October 27, 2022.Ramphul K, Kota V, Mejias SG. Child Syndrome. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022. Available online: https://www.ncbi.nlm.nih.gov/books/NBK507813. Accessed on October 27, 2022.Agud-Dios M, Ortiz Cabrera NV, Noguera-Morel L, et al. Conradi-Hünermann-Happle syndrome with minimal signs. Pediatr Dermatol. 2021;38(6):1592–1593. doi: https://doi.org/10.1111/pde.14852Agud-Dios M, Ortiz Cabrera NV, Noguera-Morel L, et al. Conradi-Hünermann-Happle syndrome with minimal signs. Pediatr Dermatol. 2021;38(6):1592–1593. doi: https://doi.org/10.1111/pde.14852Takeichi T, Akiyama M. KLICK Syndrome Linked to a POMP Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease. Front Immunol. 2020;11:641. doi: https://doi.org/10.3389/fimmu.2020.00641Takeichi T, Akiyama M. KLICK Syndrome Linked to a POMP Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease. Front Immunol. 2020;11:641. doi: https://doi.org/10.3389/fimmu.2020.00641Dahlqvist J, Törmä H, Badhai J, Dahl N. siRNA silencing of proteasome maturation protein (POMP) activates the unfolded protein response and constitutes a model for KLICK genodermatosis. PLoS One. 2012;7(1):e29471. doi: https://doi.org/10.1371/journal.pone.0029471Dahlqvist J, Törmä H, Badhai J, Dahl N. siRNA silencing of proteasome maturation protein (POMP) activates the unfolded protein response and constitutes a model for KLICK genodermatosis. PLoS One. 2012;7(1):e29471. doi: https://doi.org/10.1371/journal.pone.0029471

The authors declare that there are no conflicts of interest present.