Research & Literature

Mutations Affecting Keratin 10 Surface-Exposed Residues Highlight the Structural Basis of Phenotypic Variation in Epidermolytic Ichthyosis.

Mirza H, Kumar A, Craiglow BG, et al.

The Journal of investigative dermatology 2015; (135(12)):3041-3050 doi:10.1038/jid.2015.284.

Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier Dysfunction.

Wang T, Xu C, Zhou X, et al.

International journal of molecular sciences 2015; (16(9)):21791-801 doi:10.3390/ijms160921791.

Ichthyosis with confetti: clinics, molecular genetics and management.

Guerra L, Diociaiuti A, El Hachem M, et al.

Orphanet journal of rare diseases 2015; (10()):115 doi:10.1186/s13023-015-0336-4.

Unilateral hyperkeratotic plaques along blaschko lines.

Kumar P, Debbarman P, Rk S

Dermatology online journal 2015; (21(7)).

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.

Hotz A, Oji V, Bourrat E, et al.

Acta dermato-venereologica 2016; (96(4)):473-8 doi:10.2340/00015555-2299.

Management of Epidermolytic Ichthyosis in the Newborn.

Avril M, Riley C

Neonatal network : NN 2016; (35(1)):19-28 doi:10.1891/0730-0832.35.1.19.

Inherited ichthyosis: Non-syndromic forms.

Takeichi T, Akiyama M

The Journal of dermatology 2016; (43(3)):242-51 doi:10.1111/1346-8138.13243.

Use of the frozen section 'jelly-roll' technique to aid in the diagnosis of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis).

Galler B, Bowen C, Arnold J, et al.

Journal of cutaneous pathology 2016; (43(5)):434-7 doi:10.1111/cup.12680.

Presentation of epidermolytic acanthomas as multiple tan papules on the vulva.

Fletcher JW, Ramamurthi A, Parekh P

Proceedings (Baylor University. Medical Center) 2016; (29(2)):198-9 doi:10.1080/08998280.2016.11929416.

Epidermolytic Ichthyosis Sine Epidermolysis.

Eskin-Schwartz M, Drozhdina M, Sarig O, et al.

The American Journal of dermatopathology 2017; (39(6)):440-444 doi:10.1097/DAD.0000000000000674.

[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.

Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma.

Smith FJD, Kreuser-Genis IM, Jury CS, et al.

Clinical and experimental dermatology 2019; (44(5)):528-534 doi:10.1111/ced.13800.

Gene Editing-Mediated Disruption of Epidermolytic Ichthyosis-Associated KRT10 Alleles Restores Filament Stability in Keratinocytes.

March OP, Lettner T, Klausegger A, et al.

The Journal of investigative dermatology 2019; (139(8)):1699-1710.e6 doi:10.1016/j.jid.2019.03.1146.

Epidermolytic hyperkeratosis: clinical update.

Peter Rout D, Nair A, Gupta A, Kumar P

Clinical, cosmetic and investigational dermatology 2019; (12()):333-344 doi:10.2147/CCID.S166849.

Mutations in KRT10 in epidermolytic acanthoma.

Cheraghlou S, Atzmony L, Roy SF, et al.

Journal of cutaneous pathology 2020; (47(6)):524-529 doi:10.1111/cup.13664.

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.

A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma.

Calì F, Failla P, Vinci M, et al.

Dermatology online journal 2020; (26(7)).

Generalized epidermolytic ichthyosis with palmoplantar hyperkeratosis.

Putra PB, Radiono S, Danarti R

Dermatology online journal 2021; (27(2)).

A Case of Annular Epidermolytic Ichthyosis Resulting from a de Novo Mutation, p.I479T, in Keratin 1 Gene.

Chen L, Quan C, Zheng J, et al.

Indian journal of dermatology 2021; (66(2)):224 doi:10.4103/ijd.IJD_115_20.

Epidermolytic ichthyosis in a child and systematized epidermolytic nevi in the mosaic parent associated with a KRT1 variant.

Chia SY, Tan EC, Wei H, et al.

European journal of medical genetics 2021; (64(11)):104324 doi:10.1016/j.ejmg.2021.104324.

Epidermolytic Hyperkeratosis in an Epidermoid (Infundibular) Cyst.

Prestwood CA, Vandergriff T

The American Journal of dermatopathology 2022; (44(3)):215-217 doi:10.1097/DAD.0000000000002098.

A Case Report of an Infant with Autosomal Recessive Dystrophic Epidermolysis Bullosa: COL7A1 Gene Mutations at C2005T and G7922A.

Liu J, Wang L

Acta dermatovenerologica Croatica : ADC 2021; (29(3)):164-166.

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.

Staphylococcus aureus bacteremia and infective endocarditis in a patient with epidermolytic hyperkeratosis: A case report.

Chen Y, Chen D, Liu H, et al.

World journal of clinical cases 2022; (10(36)):13418-13425 doi:10.12998/wjcc.v10.i36.13418.

Epidermolytic ichthyosis complicated by staphylococcal scalded skin syndrome in the newborn.

Peck GM, Flood K, Marathe K

Dermatology online journal 2022; (28(5)) doi:10.5070/D328559243.

Two cases of KRT1 mutation-associated epidermolytic ichthyosis without typical epidermolytic hyperkeratosis in the neonatal skin lesions.

Kim T, Kim SC, Lee SE

Pediatric dermatology 2023; (40(6)):1149-1151 doi:10.1111/pde.15354.

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.

Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis.

Yang Z, Xu Z, He R, et al.

Pediatric investigation 2023; (7(3)):168-176 doi:10.1002/ped4.12391.

Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort.

Frommherz L, Giehl K, Hofmann J, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV 2025; (39(5)):1028-1037 doi:10.1111/jdv.20096.

Epidermal nevi and epidermolytic hyperkeratosis: A review of cases, highlighting indications for biopsy and genetics referral.

Nelson JM, Isaac JM, Mervak JE, et al.

Pediatric dermatology 2024; (41(5)):780-785 doi:10.1111/pde.15676.

Variants in the L12 linker domain of KRT10 are causal to atypical epidermolytic ichthyosis.

van der Velden JJAJ, van Gisbergen MW, Kamps MAF, et al.

The Journal of dermatology 2024; (51(9)):1180-1186 doi:10.1111/1346-8138.17395.

Congenital ichthyosis is associated with cutaneous infections in a case-control study of 2260 patients.

Curtis KL, Zeldin S, Lipner SR

Clinical and experimental dermatology 2025; (50(2)):429-431 doi:10.1093/ced/llae382.

Biologics in congenital ichthyosis: are they effective?

Mazereeuw-Hautier J, Granier Tournier C, Hernandez-Martin A, et al.

The British journal of dermatology 2025; (192(2)):327-334 doi:10.1093/bjd/ljae420.

First successful treatment of epidermolytic Ichthyosis with Vunakizumab: A Case Report.

Cheng W, Pan C, Sun Z, et al.

Frontiers in immunology 2025; (16()):1574255 doi:10.3389/fimmu.2025.1574255.

Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report.

Smits E, Naulaers G, Bolling MC, et al.

Clinical case reports 2025; (13(8)):e70682 doi:10.1002/ccr3.70682.

Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection.

Liu J, Fu Y, Zhang Q, et al.

Biomedicines 2025; (13(8)) doi:10.3390/biomedicines13082015.

Congenital and Neonatal Skin Disorders: Histopathological Diagnosis and Syndromic Associations.

Qasim H, Abu Shugaer M, Khattab K, et al.

Cureus 2025; (17(8)):e90102 doi:10.7759/cureus.90102.

Effective Management of Mosaic Epidermolytic Ichthyosis in a Pediatric Patient With Urea 30% Cream: A Case Report.

Lee WQ

Pediatric dermatology 2026; (43(3)):720-723 doi:10.1111/pde.70074.

Successful Treatment of Two Rare Pediatric Keratinization Disorders with Secukinumab: Epidermolytic Ichthyosis and PRP-GPP Overlap.

Xu Q, Zhang J

Psoriasis (Auckland, N.Z.) 2026; (16()):553794 doi:10.2147/PTT.S553794.

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.