Research & Literature

Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin.

Almutawa F, Thusaringam T, Watters K, et al.

Case reports in dermatology 2015; (7(2)):220-6 doi:10.1159/000438920.

A Small Indel Mutant Mouse Model of Epidermolytic Palmoplantar Keratoderma and Its Application to Mutant-specific shRNA Therapy.

Lyu YS, Shi PL, Chen XL, et al.

Molecular therapy. Nucleic acids 2016; (5()):e299 doi:10.1038/mtna.2016.17.

The lived experience of having a rare medical disorder: Hermansky-Pudlak syndrome.

Christensen S, Wagner L, Coleman MM, Appell D

Chronic illness 2017; (13(1)):62-72 doi:10.1177/1742395316655854.

A novel mutation of KRT9 gene in a Chinese Han pedigree with epidermolytic palmoplantar keratoderma.

Chen N, Sun J, Song Y, et al.

Journal of cosmetic dermatology 2017; (16(3)):402-406 doi:10.1111/jocd.12263.

Six generations of epidermolytic palmoplantar keratoderma, associated with a KRT9 R163W mutation.

Wang P, Kang XJ, Tang XH, et al.

Cancer genetics 2016; (209(11)):515-524 doi:10.1016/j.cancergen.2016.10.002.

Palmoplantar Keratoderma in Costello Syndrome Responsive to Acitretin.

Marukian NV, Levinsohn JL, Craiglow BG, et al.

Pediatric dermatology 2017; (34(2)):160-162 doi:10.1111/pde.13057.

Mutations in the highly conserved 1A rod domain of keratin 9 responsible for epidermolytic palmoplantar keratoderma in four Chinese families.

Mao B, Zhang J, You Y, et al.

The Journal of dermatology 2018; (45(2)):e45-e46 doi:10.1111/1346-8138.14087.

Striate palmoplantar keratoderma resulting from a missense mutation in DSG1.

Vodo D, O'Toole EA, Malchin N, et al.

The British journal of dermatology 2018; (179(3)):755-757 doi:10.1111/bjd.16320.

A novel heterozygous missense mutation of DSP in a Chinese Han pedigree with palmoplantar keratoderma.

Xue K, Zheng Y, Cui Y

Journal of cosmetic dermatology 2019; (18(1)):371-376 doi:10.1111/jocd.12533.

Identification of a Novel Keratin 9 Missense Mutation in a Chinese Family with Epidermolytic Palmoplantar Keratoderma.

Xiao H, Guo Y, Yi J, et al.

Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2018; (46(5)):1919-1929 doi:10.1159/000489381.

A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis.

Zaki TD, Yoo KY, Kassardjian M, Choate KA

Pediatric dermatology 2018; (35(6)):e414-e415 doi:10.1111/pde.13643.

CRISPR/Cas9-Mediated Treatment Ameliorates the Phenotype of the Epidermolytic Palmoplantar Keratoderma-like Mouse.

Luan XR, Chen XL, Tang YX, et al.

Molecular therapy. Nucleic acids 2018; (12()):220-228 doi:10.1016/j.omtn.2018.05.005.

Topical Selenium Sulfide for the Treatment of Hyperkeratosis.

Cohen PR, Anderson CA

Dermatology and therapy 2018; (8(4)):639-646 doi:10.1007/s13555-018-0259-9.

Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma.

Li Y, Tang L, Han Y, et al.

Frontiers in genetics 2018; (9()):645 doi:10.3389/fgene.2018.00645.

How ARVC-Related Mutations Destabilize Desmoplakin: An MD Study.

Daday C, Mateyka LM, Gräter F

Biophysical journal 2019; (116(5)):831-835 doi:10.1016/j.bpj.2019.01.023.

Pain mechanisms in hereditary palmoplantar keratodermas.

Weinberg RL, Coulombe PA, Polydefkis M, Caterina MJ

The British journal of dermatology 2020; (182(3)):543-551 doi:10.1111/bjd.17880.

Exome sequencing identifies a KRT9 pathogenic variant in a Chinese pedigree with epidermolytic palmoplantar keratoderma.

Li C, Chen P, Sun S, et al.

Molecular genetics & genomic medicine 2019; (7(7)):e00703 doi:10.1002/mgg3.703.

Keratin 9 L164P mutation in a Chinese pedigree with epidermolytic palmoplantar keratoderma, cytokeratin analysis, and literature review.

Liu X, Qiu C, He R, et al.

Molecular genetics & genomic medicine 2019; (7(11)):e977 doi:10.1002/mgg3.977.

Treatment of hereditary palmoplantar keratoderma: a review by analysis of the literature.

Bodemer C, Steijlen P, Mazereeuw-Hautier J, O'Toole EA

The British journal of dermatology 2021; (184(3)):393-400 doi:10.1111/bjd.19144.

Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders.

Kim MJ, Yum MS, Seo GH, et al.

Journal of clinical medicine 2020; (9(11)) doi:10.3390/jcm9113724.

Genetic skin disorders: The value of a multidisciplinary clinic.

Parker JC, Rangu S, Grand KL, et al.

American journal of medical genetics. Part A 2021; (185(4)):1159-1167 doi:10.1002/ajmg.a.62095.

Effect of Gentamicin Ointment in Patients with Nagashima-type Palmoplantar Keratosis: A Double-blind Vehicle-controlled Study.

Li Y, Yu X, Pan C, et al.

Acta dermato-venereologica 2021; (101(2)):adv00392 doi:10.2340/00015555-3760.

Two patients with Papillon-Lefèvre syndrome without periodontal involvement of the permanent dentition.

Umlauft J, Schnabl D, Blunder S, et al.

The Journal of dermatology 2021; (48(4)):537-541 doi:10.1111/1346-8138.15720.

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.

Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads.

Mo R, Lin M, Lee M, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV 2022; (36(10)):1857-1862 doi:10.1111/jdv.18189.

Genetic lessons learned from pathogenic variants in KRT1.

Betz RC

Journal of the European Academy of Dermatology and Venereology : JEADV 2022; (36(10)):1683-1684 doi:10.1111/jdv.18510.

Interleukin-18 as a severity marker and novel potential therapeutic target for epidermolytic ichthyosis.

Ansai O, Miyauchi T, Hayashi R, et al.

Clinical and experimental dermatology 2023; (48(3)):199-210 doi:10.1093/ced/llac069.

Novel compound heterozygous mutation in CTSC gene with response to ustekinumab.

Latour-Álvarez I, Ortega-Ramírez J, Alonso-Serrano E, Torrelo A

Journal of the European Academy of Dermatology and Venereology : JEADV 2023; (37(6)):e798-e800 doi:10.1111/jdv.18938.

De Novo Mutation in KRT1 Leads to Epidermolytic Palmoplantar Keratoderma: from Chinese Traditional Treatment to Prenatal Diagnosis Using Whole-Exome Sequencing-Plus.

Ge M, Ji C, Li H, Huang H

DNA and cell biology 2023; (42(10)):645-652 doi:10.1089/dna.2023.0154.

A Rare Case on Capecitabine Induced Acquired Palmoplantar Keratoderma.

Tsaqilah L, Mudia KAM, Usman HA, et al.

Clinical, cosmetic and investigational dermatology 2023; (16()):3713-3718 doi:10.2147/CCID.S442194.

The Depressiveness, Quality of Life and NEO-FFI Scale in Patients with Selected Genodermatoses.

Wawrzycki B, Fryze M, Mlak R, et al.

Journal of clinical medicine 2024; (13(6)) doi:10.3390/jcm13061624.

Transgradient Variant of Mal De Meleda Presenting As Palmoplantar Keratoderma: A Case Report.

Khan A, Singh A, Madke B, et al.

Cureus 2024; (16(5)):e60717 doi:10.7759/cureus.60717.

Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma.

Gram SB, Brusgaard K, Lei U, et al.

JAMA dermatology 2025; (161(2)):157-166 doi:10.1001/jamadermatol.2024.4824.

Desmoplakin Cardiomyopathy: Role of Inflammation and Potential Role of Disease-Modifying Therapies.

Gasperetti A, Carrick RT, Muller S, et al.

Current cardiology reports 2025; (27(1)):12.

Collagen Matrix and Staged Skin Grafting for Plantar Reconstruction: Lessons Learned in Treatment of Palmoplantar Keratoderma.

Choi J, Applebaum MA, Feldmann ME

Eplasty 2024; (24()):e67.

Desmoplakin-associated palmoplantar epidermal differentiation disorder: a distinct phenotype and red flag for cardiomyopathy.

Brandt E, Heliö K, Harjama L, et al.

Clinical and experimental dermatology 2025; doi:10.1093/ced/llaf443.

A frameshift variation in the DSP gene causes a novel subtype of atypical epidermolytic palmoplantar keratoderma: Case report.

Lin C, Chen H, Lai S, et al.

Frontiers in medicine 2025; (12()):1728762 doi:10.3389/fmed.2025.1728762.