Research & Literature

Recent advances in congenital ichthyoses.

Hernández-Martín A, González-Sarmiento R

Current opinion in pediatrics 2015; (27(4)):473-9 doi:10.1097/MOP.0000000000000239.

Dental Treatment of a Child Suffering from Non-bullous Congenital Ichthyosiform Erythroderma under General Anesthesia.

Choudhary R, Satish V

International journal of clinical pediatric dentistry 2015; (8(2)):157-62 doi:10.5005/jp-journals-10005-1305.

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.

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.

Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families.

Wakil SM, Binamer Y, Al-Dossari H, et al.

International journal of dermatology 2016; (55(6)):673-9 doi:10.1111/ijd.13279.

Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations.

Gruber R, Rainer G, Weiss A, et al.

The British journal of dermatology 2017; (176(4)):1068-1073 doi:10.1111/bjd.14860.

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.

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.

PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier.

Pichery M, Huchenq A, Sandhoff R, et al.

Human molecular genetics 2017; (26(10)):1787-1800 doi:10.1093/hmg/ddx079.

Corneocyte lipid envelope (CLE), the key structure for skin barrier function and ichthyosis pathogenesis.

Akiyama M

Journal of dermatological science 2017; (88(1)):3-9 doi:10.1016/j.jdermsci.2017.06.002.

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.

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.

Elucidation of the Synthetic Mechanism of Acylceramide, an Essential Lipid for Skin Barrier Function.

Ohno Y

Yakugaku zasshi : Journal of the Pharmaceutical Society of Japan 2017; (137(10)):1201-1208 doi:10.1248/yakushi.17-00126.

Management of pediatric psoriasis with acitretin: A review.

Subedi S, Yu Q, Chen Z, Shi Y

Dermatologic therapy 2018; (31(1)) doi:10.1111/dth.12571.

An 8-Year-Old Child with Delayed Diagnosis of Netherton Syndrome.

Leung AKC, Barankin B, Leong KF

Case reports in pediatrics 2018; (2018()):9434916 doi:10.1155/2018/9434916.

Alitretinoin reduces erythema in inherited ichthyosis.

Onnis G, Chiaverini C, Hickman G, et al.

Orphanet journal of rare diseases 2018; (13(1)):46 doi:10.1186/s13023-018-0783-9.

Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis.

Dökmeci-Emre S, Taşkıran ZE, Yüzbaşıoğlu A, et al.

The Turkish journal of pediatrics 2017; (59(4)):475-482.

Lamellar ichthyosis in a female neonate without a collodion membrane.

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

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

Long-term safety and efficacy of continuous acitretin monotherapy for three children with different severe hyperkeratotic disorders in China.

Liang J, Chen P, Chen H, et al.

The Journal of dermatology 2018; (45(8)):1003-1008 doi:10.1111/1346-8138.14462.

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.

Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.

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

Human mutation 2019; (40(3)):288-298 doi:10.1002/humu.23695.

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.

The clinical toxicology of sodium hypochlorite.

Slaughter RJ, Watts M, Vale JA, et al.

Clinical toxicology (Philadelphia, Pa.) 2019; (57(5)):303-311 doi:10.1080/15563650.2018.1543889.

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.

Management of ocular manifestations of autosomal recessive congenital ichthyosis 4B, harlequin type, in the perinatal period.

Khalili A, Schear M, Greaves G, et al.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2019; (23(6)):352-354 doi:10.1016/j.jaapos.2019.08.274.

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.

SDR9C7 catalyzes critical dehydrogenation of acylceramides for skin barrier formation.

Takeichi T, Hirabayashi T, Miyasaka Y, et al.

The Journal of clinical investigation 2020; (130(2)):890-903.

Safe and effective use of alitretinoin in children with recalcitrant hand eczema and other dermatoses - a retrospective analysis.

Luchsinger I, Vogler T, Schwieger-Briel A, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV 2020; (34(5)):1037-1042 doi:10.1111/jdv.16088.

Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation.

Murase Y, Takeichi T, Kawamoto A, et al.

Journal of dermatological science 2020; (97(1)):50-56 doi:10.1016/j.jdermsci.2019.12.001.

Analysis of the expression of transglutaminases in the reconstructed human epidermis using a three-dimensional cell culture.

Teshima H, Kato M, Tatsukawa H, Hitomi K

Analytical biochemistry 2020; (603()):113606 doi:10.1016/j.ab.2020.113606.

Ischemic Risk in Collodion Baby: An Orthopaedic Perspective.

Besonhe P, Docquier PL

Case reports in orthopedics 2020; (2020()):1397465 doi:10.1155/2020/1397465.

Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient.

Yang Z, Qi Z, Xu Z, et al.

Pediatric investigation 2020; (4(1)):51-54 doi:10.1002/ped4.12182.

Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents.

Zaenglein AL, Levy ML, Stefanko NS, et al.

Pediatric dermatology 2021; (38(1)):164-180 doi:10.1111/pde.14408.

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.

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.

The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study.

Abeni D, Rotunno R, Diociaiuti A, et al.

Acta dermato-venereologica 2021; (101(6)):adv00477 doi:10.2340/00015555-3822.

Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype.

Anker P, Kiss N, Kocsis I, et al.

Life (Basel, Switzerland) 2021; (11(7)) doi:10.3390/life11070624.

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.

Variants in the PNPLA1 Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance.

Ahmad F, Ahmed I, Alam Q, et al.

Molecular syndromology 2021; (12(6)):351-361 doi:10.1159/000516943.

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.

Real-world data on the use of secukinumab and acitretin in pediatric generalized pustular psoriasis.

Miao C, Chen Y, Wang Z, et al.

The Journal of dermatology 2023; (50(2)):258-261 doi:10.1111/1346-8138.16551.

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.

Could "Islets of Sparing" Be a Clue for Neutral Lipid Storage Disease with Ichthyosis in Patients with Congenital Ichthyosiform Erythroderma?

Demir FT, Cayhan B, Karaoglan C, et al.

Indian journal of dermatology 2022; (67(5)):579-582 doi:10.4103/ijd.ijd_1154_20.

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.

Alitretinoin as a Treatment Modality for Ichthyosis in Women of Childbearing Age: A Case Series and Review of the Literature.

Clabbers J, van Oosten NV, Bolling M, et al.

Dermatology (Basel, Switzerland) 2024; (240(1)):170-177 doi:10.1159/000533934.

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.

Use of Acitretin Among Girls and Women of Childbearing Age and Occurrence of Acitretin-Exposed Pregnancies in Germany.

Reinold J, Kollhorst B, Temme HL, et al.

Clinical drug investigation 2023; (43(11)):865-872 doi:10.1007/s40261-023-01314-2.

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.

Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs.

Peña-Corona SI, Gutiérrez-Ruiz SC, Echeverria MLDC, et al.

Frontiers in pharmacology 2023; (14()):1274248 doi:10.3389/fphar.2023.1274248.

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.

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.

Congenital Bilateral Ectropion in Collodion Infants: A Case Series.

Karn MK, Kusumesh R, Bhaskar G, Adhikari A

Cureus 2024; (16(11)):e73437 doi:10.7759/cureus.73437.

[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.

A case report and literature review of self-improving collodion baby in the newborn.

Guo Y, Xiao Z, Hu X, et al.

Medicine 2025; (104(14)):e42045 doi:10.1097/MD.0000000000042045.

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.

Neonatal Erythroderma: Diagnostic Challenges and the Limitations of Genetic Testing.

Phipps J, Popescu O

Cureus 2025; (17(11)):e96134 doi:10.7759/cureus.96134.

Guidelines of care for the management of atopic dermatitis in pediatric patients.

Davis DMR, Alikhan A, Bercovitch L, et al.

Journal of the American Academy of Dermatology 2026; (95(1)):121.e1-121.e26 doi:10.1016/j.jaad.2026.02.113.

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.

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.

CYP4F22-Related Autosomal Recessive Congenital Ichthyosis Associated With Hirschsprung Disease and Bartter-Like Renal Manifestations.

Alqahtani JM

Journal of medical cases 2026; (17(10)):599-603 doi:10.14740/jmc5388.

Real-World Effectiveness and Safety of Oral Alitretinoin in Chronic Hand Eczema with Exploratory Off-Label Indications: A 10-Year Single-Center Korean Study.

Lee J, Park J

Medicina (Kaunas, Lithuania) 2026; (62(9)) doi:10.3390/medicina62091625.