Research & Literature

Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan.

Shibata A, Akiyama M

Pediatrics international : official journal of the Japan Pediatric Society 2015; (57(4)):516-22 doi:10.1111/ped.12638.

Vitamin D Deficiency After Oral Retinoid Therapy for Ichthyosis.

Neema S, Mukherjee S, Vasudevan B, et al.

Pediatric dermatology 2015; (32(4)):e151-5 doi:10.1111/pde.12614.

Essential role of the cytochrome P450 CYP4F22 in the production of acylceramide, the key lipid for skin permeability barrier formation.

Ohno Y, Nakamichi S, Ohkuni A, et al.

Proceedings of the National Academy of Sciences of the United States of America 2015; (112(25)):7707-12 doi:10.1073/pnas.1503491112.

Otologic Manifestations of Autosomal Recessive Congenital Ichthyosis in Children.

Martín-Santiago A, Rodríguez-Pascual M, Knöpfel N, Hernández-Martín Á

Actas dermo-sifiliograficas 2015; (106(9)):733-9.

Collodion Baby with TGM1 gene mutation.

Sharma D, Gupta B, Shastri S, et al.

International medical case reports journal 2015; (8()):205-8 doi:10.2147/IMCRJ.S91517.

Case Report: Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12 duplication and autosomal recessive non-syndromic ichthyosis.

Gupta A, Sharma Y, Deo K, et al.

F1000Research 2015; (4()):446 doi:10.12688/f1000research.6779.1.

Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy.

Mashiah J, Harel A, Bitterman O, et al.

Clinical and experimental dermatology 2016; (41(4)):390-3 doi:10.1111/ced.12774.

Congenital Ichthyosiform Erythroderma Superimposed with Chronic Dermatophytosis: A Report of Three Siblings.

Vyas NS, Kannan S, N Jahnke M, et al.

Pediatric dermatology 2016; (33(1)):e6-9 doi:10.1111/pde.12728.

Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby.

Noguera-Morel L, Feito-Rodríguez M, Maldonado-Cid P, et al.

Pediatric dermatology 2016; (33(2)):e48-51 doi:10.1111/pde.12740.

Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.

Pigg MH, Bygum A, Gånemo A, et al.

Acta dermato-venereologica 2016; (96(7)):932-937 doi:10.2340/00015555-2418.

An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis.

Paller AS, Renert-Yuval Y, Suprun M, et al.

The Journal of allergy and clinical immunology 2017; (139(1)):152-165 doi:10.1016/j.jaci.2016.07.019.

Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.

Vahidnezhad H, Youssefian L, Saeidian AH, et al.

The Journal of investigative dermatology 2017; (137(3)):678-685 doi:10.1016/j.jid.2016.11.012.

Concomitant extraspinal hyperostosis and osteoporosis in a patient with congenital ichthyosis.

Torkamani N, Phal P, Savarirayan R, et al.

Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases 2016; (13(2)):157-159 doi:10.11138/ccmbm/2016.13.2.157.

Congenital Ichthyosis: A Case Treated Successfully With Acitretin.

Gulasi S

Iranian journal of pediatrics 2016; (26(5)):e2442 doi:10.5812/ijp.2442.

PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis.

Hirabayashi T, Anjo T, Kaneko A, et al.

Nature communications 2017; (8()):14609 doi:10.1038/ncomms14609.

Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.

Heinz L, Kim GJ, Marrakchi S, et al.

American journal of human genetics 2017; (100(6)):926-939 doi:10.1016/j.ajhg.2017.05.007.

Ectropion Improvement with Topical Tazarotene in Children with Lamellar Ichthyosis.

Hanson B, Becker L, Hook K, et al.

Pediatric dermatology 2017; (34(5)):584-589 doi:10.1111/pde.13240.

[Red, scaly baby: a pediatric dermatological emergency : Clinical and differential diagnoses of neonatal erythroderma].

Ott H, Grothaus J

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete 2017; (68(10)):796-802 doi:10.1007/s00105-017-4035-z.

Angioedema without urticaria caused by oral acitretin.

Pasmatzi E, Monastirli A, Badavanis G, Tsambaos D

Acta dermatovenerologica Alpina, Pannonica, et Adriatica 2017; (26(3)):67-68 doi:10.15570/actaapa.2017.21.

Decreased Skin Barrier Lipid Acylceramide and Differentiation-Dependent Gene Expression in Ichthyosis Gene Nipal4-Knockout Mice.

Honda Y, Kitamura T, Naganuma T, et al.

The Journal of investigative dermatology 2018; (138(4)):741-749 doi:10.1016/j.jid.2017.11.008.

Apremilast Use in a Case of Cicatricial Ectropion Secondary to Severe Lamellar Ichthyosis.

Abboud JJ, Whittington A, Ahmed M, et al.

Ophthalmic plastic and reconstructive surgery 2018; (34(3)):e76-e77 doi:10.1097/IOP.0000000000001047.

Whole-exome sequencing for diagnosis of hereditary ichthyosis.

Sitek JC, Kulseth MA, Rypdal KB, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV 2018; (32(6)):1022-1027 doi:10.1111/jdv.14870.

Lamellar ichthyosis in a female neonate without a collodion membrane.

Chao K, Aleshin M, Goldstein Z, et al.

Dermatology online journal 2018; (24(2)).

Collodion baby case series: the success of oral retinoic acid.

Özyurt BM, Onay ÖS, Ersoy Ö

Turk pediatri arsivi 2018; (53(1)):51-56 doi:10.5152/TurkPediatriArs.2018.3704.

Use of Topical Glycolic Acid Plus a Lovastatin-Cholesterol Combination Cream for the Treatment of Autosomal Recessive Congenital Ichthyoses.

Khalil S, Bardawil T, Saade S, et al.

JAMA dermatology 2018; (154(11)):1320-1323 doi:10.1001/jamadermatol.2018.2904.

Compound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in TGM1 cause a severe form of lamellar ichthyosis.

Takeda M, Nomura T, Sugiyama T, et al.

The Journal of dermatology 2018; (45(12)):1463-1467 doi:10.1111/1346-8138.14675.

Patients with congenital ichthyosis and TGM1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response?

Zhang H, Ericsson M, Weström S, et al.

Experimental dermatology 2019; (28(10)):1164-1171 doi:10.1111/exd.13813.

Collodion baby treated at a tertiary hospital in Tanzania: a case report.

Godfrey EK, Furumbe EG, Faustine F, Naburi H

Journal of medical case reports 2018; (12(1)):385 doi:10.1186/s13256-018-1912-8.

Lichenoid folliculitis of the scalp in four patients with ichthyosiform skin disorders and cicatricial alopecia.

Gavazzoni Dias MFR, Dutra H, Trüeb R, et al.

Journal of cutaneous pathology 2019; (46(6)):431-435 doi:10.1111/cup.13439.

Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation.

Alallasi SR, Kokandi AA, Banagnapali B, et al.

Frontiers in pediatrics 2019; (7()):44 doi:10.3389/fped.2019.00044.

Correction osteotomy for bilateral varus knee deformity caused by premature epiphyseal closure induced by hypervitaminosis A: a case report.

Matsuoka M, Onodera T, Majima T, et al.

BMC musculoskeletal disorders 2019; (20(1)):287 doi:10.1186/s12891-019-2665-2.

Case Report: Corneal Ulceration from Bilateral Ectropion Due to Congenital Ichthyosis.

Vollmer L, Sowka J

Optometry and vision science : official publication of the American Academy of Optometry 2019; (96(9)):706-709 doi:10.1097/OPX.0000000000001415.

Pharmacological treatments for cutaneous manifestations of inherited ichthyoses.

Cortés H, Del Prado-Audelo ML, Urbán-Morlán Z, et al.

Archives of dermatological research 2020; (312(4)):237-248 doi:10.1007/s00403-019-01994-x.

Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017.

Seidl-Philipp M, Schatz UA, Gasslitter I, et al.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG 2020; (18(1)):17-25 doi:10.1111/ddg.13968.

Next-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese.

Cheng R, Liang J, Li Y, et al.

Clinical genetics 2020; (97(5)):770-778 doi:10.1111/cge.13704.

Transepidermal water loss in the orphan forms of ichthyosis.

Erickson TR, Murphrey MB, Abu-Zayed H, et al.

Pediatric dermatology 2020; (37(4)):771-773 doi:10.1111/pde.14221.

Consensus on the use of oral isotretinoin in dermatology - Brazilian Society of Dermatology.

Bagatin E, Costa CS, Rocha MADD, et al.

Anais brasileiros de dermatologia 2020; (95 Suppl 1()):19-38 doi:10.1016/j.abd.2020.09.001.

Combined medical and surgical management for cicatricial ectropion in lamellar ichthyosis: A report of three cases.

Subramanian N, Nivean PD, Alam MS

Indian journal of ophthalmology 2020; (68(11)):2615-2617 doi:10.4103/ijo.IJO_855_20.

Increased risk of depression and impairment in quality of life in patients with lamellar ichthyosis.

Cortés H, Rojas-Márquez M, Reyes-Hernández OD, et al.

Dermatologic therapy 2021; (34(1)):e14628 doi:10.1111/dth.14628.

Knockdown of SDR9C7 Impairs Epidermal Barrier Function.

Youssefian L, Niaziorimi F, Saeidian AH, et al.

The Journal of investigative dermatology 2021; (141(7)):1754-1764.e1 doi:10.1016/j.jid.2020.11.030.

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.

Hotz A, Kopp J, Bourrat E, et al.

Genes 2021; (12(1)) doi:10.3390/genes12010080.

Comprehensive stratum corneum ceramide profiling reveals reduced acylceramides in ichthyosis patient with CERS3 mutations.

Yamamoto M, Sassa T, Kyono Y, et al.

The Journal of dermatology 2021; (48(4)):447-456 doi:10.1111/1346-8138.15725.

Corneal ulcer secondary to ectropion in lamellar Ichthyosis: A rare congenital disorder.

Bhedasgaonkar SS, Nadkarni SU

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society 2020; (34(1)):59-61 doi:10.4103/1319-4534.301289.

Prenatal diagnosis of harlequin ichthyosis by ultrasonography: a case report.

Zhou XJ, Lin YJ, Chen XW, et al.

Annals of translational medicine 2021; (9(2)):183 doi:10.21037/atm-20-8223.

Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.

Mohamad J, Samuelov L, Malchin N, et al.

Experimental dermatology 2021; (30(9)):1290-1297 doi:10.1111/exd.14345.

High rate of self-improving phenotypes in children with non-syndromic congenital ichthyosis: case series from south-western Germany.

Frommherz L, Krause A, Kopp J, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV 2021; (35(11)):2293-2299 doi:10.1111/jdv.17524.

Isotretinoin for acne vulgaris - an update on adverse effects and laboratory monitoring.

Fallah H, Rademaker M

The Journal of dermatological treatment 2022; (33(5)):2414-2424 doi:10.1080/09546634.2021.1967269.

Urea in Dermatology: A Review of its Emollient, Moisturizing, Keratolytic, Skin Barrier Enhancing and Antimicrobial Properties.

Piquero-Casals J, Morgado-Carrasco D, Granger C, et al.

Dermatology and therapy 2021; (11(6)):1905-1915 doi:10.1007/s13555-021-00611-y.

Analysis of the effects of isotretinoin on the premature epiphyseal closure in pediatric populations: a literature review.

Alazawi S, Hendriksz T

Journal of osteopathic medicine 2021; (122(1)):45-53 doi:10.1515/jom-2021-0108.

Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis.

Hake L, Süßmuth K, Komlosi K, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV 2022; (36(4)):582-591 doi:10.1111/jdv.17873.

Secukinumab responses vary across the spectrum of congenital ichthyosis in adults.

Lefferdink R, Rangel SM, Chima M, et al.

Archives of dermatological research 2023; (315(2)):305-315 doi:10.1007/s00403-022-02325-3.

Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis.

Chulpanova DS, Shaimardanova AA, Ponomarev AS, et al.

International journal of molecular sciences 2022; (23(5)) doi:10.3390/ijms23052506.

Successful Treatment of an Adult with Atopic Dermatitis and Lamellar Ichthyosis Using Dupilumab.

Binkhonain FK, Aldokhayel S, BinJadeed H, Madani A

Biologics : targets & therapy 2022; (16()):85-88 doi:10.2147/BTT.S362391.

Is routine laboratory testing in healthy young patients taking isotretinoin necessary: a critically appraised topic.

Affleck A, Jackson D, Williams HC, et al.

The British journal of dermatology 2022; (187(6)):857-865 doi:10.1111/bjd.21840.

Retinoid-induced skeletal hyperostosis in disorders of keratinization.

Doolan BJ, Paolino A, Greenblatt DT, Mellerio JE

Clinical and experimental dermatology 2022; (47(12)):2273-2276 doi:10.1111/ced.15382.

Severe Bilateral Ectropion in Lamellar Ichthyosis: A Case Report.

Moustaine MO, Frarchi M, Haloui M, Chabbab FZ

The American journal of case reports 2022; (23()):e935544 doi:10.12659/AJCR.935544.

Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.

Almazroea A, Ijaz A, Aziz A, et al.

Medicina (Kaunas, Lithuania) 2023; (59(1)) doi:10.3390/medicina59010103.

Phase IIb randomized CONTROL study demonstrates a novel topical isotretinoin formulation, TMB-001, is safe and effective in participants with either recessive X-linked or autosomal recessive lamellar congenital ichthyosis.

Murrell DF, Teng JMC, Guenthner S, et al.

Clinical and experimental dermatology 2023; (48(6)):623-630 doi:10.1093/ced/llad033.

Congenital ichthyosis: a multidisciplinary approach in a neonatal care unit.

Dias JV, Cardoso K, Prado SN, Cavaco H

BMJ case reports 2023; (16(2)) doi:10.1136/bcr-2022-250077.

Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.

Hotz A, Kopp J, Bourrat E, et al.

Genes 2023; (14(3)) doi:10.3390/genes14030717.

Collodion baby with ectropion in a Syrian newborn: a case report study.

Soqia J, Mohamad L, Aloqla NA, et al.

Annals of medicine and surgery (2012) 2023; (85(5)):1902-1905 doi:10.1097/MS9.0000000000000382.

High Levels of Anxiety, Depression, Risk of Suicide, and Implications for Treatment in Patients with Lamellar Ichthyosis.

Cortés H, Cariño-Calvo L, Reyes-Hernández OD, et al.

Healthcare (Basel, Switzerland) 2023; (11(14)) doi:10.3390/healthcare11142071.

Case report of self-improving collodion ichthyosis in the newborn.

Zhu S, Jiang Y, Shen N, et al.

The Journal of international medical research 2023; (51(10)):3000605231204491 doi:10.1177/03000605231204491.

Lamellar ichthyosis with a novel NIPAL4 variant showing dramatic response to high-dose vitamin D therapy.

Azeez F, Sunil M, Sahadevan G, et al.

Pediatric dermatology 2024; (41(2)):348-350 doi:10.1111/pde.15484.

An infant with lamellar ichthyosis presenting with meningitis.

Mesfin T, Tsegaye M, Seyoum K, et al.

Clinical case reports 2023; (11(12)):e8329 doi:10.1002/ccr3.8329.

Congenital ichthyosis presentation and outcome - A case series.

Ansari QA, Singh VA, Randad KG, Bansal P

Journal of family medicine and primary care 2023; (12(11)):2990-2993 doi:10.4103/jfmpc.jfmpc_1080_23.

Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.

Diociaiuti A, Corbeddu M, Rossi S, et al.

Dermatology (Basel, Switzerland) 2024; (240(3)):397-413 doi:10.1159/000536366.

Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review.

Liu JW, Guo K, Zhang R, et al.

Molecular genetics & genomic medicine 2024; (12(5)):e2431 doi:10.1002/mgg3.2431.

Unveiling collodion baby: confronting ectropion and respiratory drama in neonatal care.

Srivastava U, Singh KA, Sahu A, Dalai R

BMJ case reports 2024; (17(8)) doi:10.1136/bcr-2024-261687.

Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis.

Zaouak A, Jouini W, Abdessalem G, et al.

International journal of women's dermatology 2024; (10(3)):e175 doi:10.1097/JW9.0000000000000175.

A cellular disease model toward gene therapy of TGM1-dependent lamellar ichthyosis.

Sercia L, Romano O, Marini G, et al.

Molecular therapy. Methods & clinical development 2024; (32(3)):101311 doi:10.1016/j.omtm.2024.101311.

Genetic investigations of autosomal recessive inherited ichthyosis impressed by fetal ultrasound: Exome sequencing and haplotype linkage analysis.

Chang TY, Lim ZW, Chu YT, et al.

Taiwanese journal of obstetrics & gynecology 2025; (64(1)):53-60 doi:10.1016/j.tjog.2024.03.026.

[Systemic therapies for pediatric patients with ichthyosis].

Trefzer L, Süßmuth K

Dermatologie (Heidelberg, Germany) 2025; (76(4)):193-201 doi:10.1007/s00105-025-05484-2.

Novel compound heterozygous variants in TGM1 with the lethal neonatal collodion baby and autosomal recessive congenital ichthyosis.

Pan Y, Xu H, Zeng M, et al.

Archives of dermatological research 2025; (317(1)):611 doi:10.1007/s00403-025-03796-w.

Balancing efficacy and hepatotoxicity: a comprehensive review of oral medications in psoriasis management.

Elsisi AE, Abu-Risha SE, Alkabbani MA, et al.

Naunyn-Schmiedeberg's archives of pharmacology 2025; (398(12)):16355-16384 doi:10.1007/s00210-025-04334-1.

Autosomal Recessive Congenital Ichthyosis Due to Heterozygote Variants in the ALOX12B gene Presenting as Mild Nonbullous Congenital Ichthyosiform Erythroderma.

Hižar Gašpar I, Rešić A, Pustišek N, Odak L

Acta dermatovenerologica Croatica : ADC 2024; (32(3)):159-162.

Novel Early Kangaroo Care and Breastfeeding Approach Through Polyethylene Wrap in Collodion Baby Syndrome: A Case Report.

Perre E, Pasquali E, De Angelis M, et al.

Breastfeeding medicine : the official journal of the Academy of Breastfeeding Medicine 2025; (20(12)):953-957 doi:10.1177/15568253251380561.

Evaluation of the Efficacy of Transglutaminase 1 Gene Delivery by Adeno-Associated Virus into Rat and Pig Skin and Safety of ARCI Gene Therapy.

Ponomarev A, Ganiev I, Aimaletdinov A, et al.

International journal of molecular sciences 2025; (26(20)) doi:10.3390/ijms26209976.

Unmasking the Hidden Risk of Systemic Toxicity from Topical Salicylates.

Tabatabai N, Dash S, Chenoweth JA, Albertson TE

The western journal of emergency medicine 2025; (26(5)):1459-1467 doi:10.5811/westjem.46538.

Maximal use of 0.05% topical isotretinoin in patients with congenital ichthyosis results in low systemic exposure.

Schneider H, Bunick CG, Hillmann K, et al.

British journal of clinical pharmacology 2026; (92(4)):1256-1260 doi:10.1002/bcp.70423.

Multimodal Anterior Segment Imaging of Severe Mixed Exposure-Related Neurotrophic Keratopathy with Marked Corneal Thinning in Lamellar Ichthyosis.

Luboń W, Luboń M, Dorecka M

Diagnostics (Basel, Switzerland) 2026; (16(8)) doi:10.3390/diagnostics16081209.

Secukinumab for lamellar ichthyosis in an adolescent: a case report.

Li L, Wei F

Translational pediatrics 2026; (15(5)):201 doi:10.21037/tp-2026-1-0127.

Systemic Salicylate Toxicity From Topical Emollient Use in an Infant With Suspected Ichthyosis.

Pullukat K, Husien T

Cureus 2026; (18(6)):e110778 doi:10.7759/cureus.110778.

Novel Compound Heterozygous Variants in TGM1 and CYP4F22 in Two Newborns with Non-Syndromic Epidermal Differentiation Disorders (TGM1-nEDD and CYP4F22-nEDD).

Serra G, Barbera G, Antona V, et al.

Journal of clinical medicine 2026; (15(14)) doi:10.3390/jcm15145556.