KRT6A Variant Underlies Pachyonychia Congenita: Insights Into Protein Aggregation and PPAR Signaling.

Functional roles of Keratin 6A in disease pathogenesis across cancer and skin disorders.

Proteomics reveals altered lipid biosynthesis and keratin hyperphosphorylation in pachyonychia congenita.

Oral Statin Therapy in KRT16- and KRT17-Associated Palmoplantar Epidermal Differentiation Disorder (Pachyonychia Congenita).

A Newly Documented Rare Case of Pachyonychia Congenita II in a Three-Month-Old Baby.

Off-Label Topical Application of Sirolimus (Rapamycin) for Dermatological Conditions.

The Importance of Shared Patient Voices in Advancing Science for Genodermatoses on a Global Scale.

Early-onset Pachyonychia Congenita with Oral and Cutaneous Manifestations.

Mucoscopic Features of Oral Lichen Planus: A Retrospective Comparative Study with Inflammatory Mimickers.

Nonsyndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy.

Syndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy.

Palmoplantar epidermal differentiation disorders: a new classification toward pathogenesis-based therapy.

Evaluation of the Foot Function Index in pachyonychia congenita.

The variant c.274A>G (p.Asn92Asp) in KRT17 in a patient with pachyonychia congenita and a novel clinical feature of acne inversa.

Non-pachyonychia congenita conditions in the International Pachyonychia Congenita Research Registry.

Celebrating 20 Years of the International Pachyonychia Congenita Consortium.

Prevalence and Patient Characteristics of Pachyonychia Congenita.

Pachyonychia Congenita: A Rare Disorder of Keratinization.

Pachyonychia congenita: Spectrum of cutaneous disease.

Pachyonychia congenita: A father and son with a novel variant in the KRT16 gene.

A case of pachyonychia congenita with a hotspot variant at Arg127 in KRT16: Disease severity assessment using AlphaMissense technology.

Congenital nail abnormalities.

Pain Hypersensitivity in SLURP1 and SLURP2 Knock-out Mouse Models of Hereditary Palmoplantar Keratoderma.

Pachyonychia congenita: pathogenesis of pain and approaches to treatment.

Mutation p.Arg127Pro in the 1A Domain of KRT16 Causes Pachyonychia Congenita in Chinese Patient: A Case Report of PC Associated with Acral Melanoma.

A Rare Case of Pachyonychia Congenita and the Need for Awareness.

A cross-sectional study of erythromelalgia in patients with pachyonychia congenita.

A novel heterozygous frameshift mutation in the KRT6A gene responsible for an uncommon phenotype of pachyonychia congenita: One case report and review of literature.

Increase in melanoma knowledge in Latino patients after a targeted digital educational program.

Surgical Management of Pachyonychia Congenita in a 3-Year-Old.

Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches.

A recurrent missense mutation in the KRT16 gene causing pachyonychia congenita in a patient.

Pachyonychia Congenita Project: Advancing Research and Drug Development through Collaboration.

Successful treatment of pachyonychia congenita with simvastatin.

The Pachyonychia Congenita Virtual Support Group Meeting: Patient Insights and Pearls.

Posttranslational modifications of keratins and their associated proteins as therapeutic targets in keratin diseases.

Pachyonychia Congenita: Clinical Features and Future Treatments.

Pachyonychia Congenita: Sporadic Onset with Mutation Analysis.

Nail Whispers Revealing Dermatological and Systemic Secrets: An Analysis of Nail Disorders Associated With Diverse Dermatological and Systemic Conditions.

Proteomic profiling reveals KRT6C as a probable hereterodimer partner for KRT9: New insights into re-classifying epidermolytic palmoplantar keratoderma (EPPK) and a milder form of pachyonychia congenita (PC-K6c) as a group of genetic cutaneous disorders.

Walking a day in a pachyonychia congenita patient's shoes: Impact on plantar pain and activity levels measured with wristband activity trackers.

Phenotype and genotype features of Vietnamese children with pachyonychia congenita.

Pachyonychia Congenita with a Novel Variant in the KRT16 Gene, c.348_379delinsAA.

Defining patient-centered research priorities in pediatric dermatology.

Painful thickened skin on the soles of the feet.

A novel KRT16 frameshift variant causing pachyonychia congenita by re-initiation of translation.

EGFR Signaling Is Overactive in Pachyonychia Congenita: Effective Treatment with Oral Erlotinib.

Modulation of keratin deposition and pathogenesis of hidradenitis suppurativa: evidence coming from pachyonychia congenita.

A unique skin phenotype resulting from a large heterozygous deletion spanning six keratin genes.

Heterozygous variants in the integrin subunit beta 4 gene (ITGB4) cause autosomal dominant nail dystrophy.

KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies.

Coexistence of pachyonychia congenita and hidradenitis suppurativa: more than a coincidence.

Treatment of Painful Palmoplantar Keratoderma Related to Pachyonychia Congenita Using EGFR Inhibitors.

Scrutinising the role of simvastatin in a patient of Pachyonychia Congenita with KRT6A gene mutation.

Genotype-phenotype correlations of neurovascular structures on the feet in patients with pachyonychia congenita: A cross-sectional study.

A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report.

Future Perspectives of Oral Delivery of Next Generation Therapies for Treatment of Skin Diseases.

Prevalence and Characterization of Itch in Pachyonychia Congenita.

Ocular manifestations of skin diseases with pathological keratinization abnormalities.

Highly branched poly(β-amino ester)s for gene delivery in hereditary skin diseases.

Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita.

Distinctions in the Management, Patient Impact, and Clinical Profiles of Pachyonychia Congenita Subtypes.

A KRT6A and a Novel KRT16 Gene Mutations in Chinese Patients with Pachyonychia Congenita.

Pediatric Nail Disorders.

Therapeutic Use of Botulinum Neurotoxins in Dermatology: Systematic Review.

Identification of clinically useful predictive genetic variants in pachyonychia congenita.

Homozygous dominant missense mutation in Keratin 6b leading to severe pachyonychia congenita.

Molecular epidemiology of pachyonychia congenita in the Israeli population.

Generalized bullae in a young girl with KRT6A-related pachyonychia congenita.

Severely Callused Hands and Feet.

Successful treatment of Pachyonychia congenita with Rosuvastatin.

A role for keratins in supporting mitochondrial organization and function in skin keratinocytes.

Pachyonychia congenita, a paradigm for rare skin disorders.

Sharing (data) is caring for patients with pachyonychia congenita.

Management of symptomatic mucosal involvement in paediatric pachyonychia congenita.

Pachyonychia congenita and botulinum toxin.

The histopathological features of the nail plate in pachyonychia congenita.

Plantar pain and thickened nails: a genodermatosis.

Revisiting pachyonychia congenita: a case-cohort study of 815 patients.

Current mysteries of pachyonychia congenita.

Symptomatic mucosal involvement in pachyonychia congenita: challenges in infants and young children.

Update on pachyonychia congenita research.

[Genetic study of a Chinese pedigree affected with pachyonychia congenita].

Old mitochondria accumulate in pachyonychia congenita.

Follicular occlusion tetrad in a male patient with pachyonychia congenita: clinical and genetic analysis.

Stopping pachyonychia congenita plantar pain with a statin?

Pachyonychia congenita responding favorably to a combination of surgical and medical therapies.

Intravenous Ketamine as an Adjunct for Pachyonychia Congenita-Associated Pain: A Case Report.

Altered keratinocyte differentiation is an early driver of keratin mutation-based palmoplantar keratoderma.

A treatment protocol for botulinum toxin injections in the treatment of pachyonychia congenita-associated keratoderma.

Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management.

A systematic review of reported cases of pachyonychia congenita tarda.

Pathophysiology of pachyonychia congenita-associated palmoplantar keratoderma: new insights into skin epithelial homeostasis and avenues for treatment.

Keratin 6a mutations lead to impaired mitochondrial quality control.

Pachyonychia Congenita Associated with a Novel Variant of KRT17 Presenting Unusual Oral Manifestations.

A KRT16 mutation in the first Chinese pedigree with Pachyonychia congenita and review of the literatures.

Novel mutations in desmoglein 1: focal palmoplantar keratoderma in milder phenotypes.

Thick nails, plantar keratoderma, follicular hyperkeratosis, and leukokeratosis associated with a novel mutation in KRT6A gene.

Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation.

Keratin 17 in disease pathogenesis: from cancer to dermatoses.

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

Nociceptin/orphanin FQ opioid peptide-receptor expression in pachyonychia congenita.

Plantar pain in pachyonychia congenita.

Skin fragility, woolly hair syndrome with a desmoplakin mutation - a case from India.

Enamel Anomalies in a Pachyonychia Congenita Patient with a Mutation in KRT16.

Facial cystic lesions and onychodystrophy.

Identification of a novel substitution mutation (R103C) in the rod domain of the keratin 17 gene associated with pachyonychia congenita type 2.

Novel treatment of painful plantar keratoderma in pachyonychia congenita using topical sirolimus.

Sex Matters: Interfering with the Oxidative Stress Response in Pachyonychia Congenita.

The keratin 16 null phenotype is modestly impacted by genetic strain background in mice.

Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay.

Striate palmoplantar keratoderma resulting from a missense mutation in DSG1.

Sexual Dimorphism in Response to an NRF2 Inducer in a Model for Pachyonychia Congenita.

Cutaneous Cysts with Nail Dystrophy in a Young Female: A Classical Association.

Chronic pain in pachyonychia congenita: evidence for neuropathic origin.

First Report of Pachyonychia Congenita Type PC-K6a in the Romanian Population.

The non-neuronal and nonmuscular effects of botulinum toxin: an opportunity for a deadly molecule to treat disease in the skin and beyond.

Management of Plantar KeratodermasLessons from Pachyonychia Congenita.

Diffuse Palmoplantar Keratoderma, Onychodystrophy, universal Hypotrichosis and Cysts.

Keratin 6b variant p.Gly499Ser reported in delayed-onset pachyonychia congenita is a non-pathogenic polymorphism.

Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita.

Pachyonychia Congenita: Brief Appraisal of History and Current Classification.

Proteomic profiling of Pachyonychia congenita plantar callus.

Pachyonychia Congenita in a Toddler.

Nail removal in pachyonychia congenita: Patient-reported survey outcomes.

Report of the 13th Annual International Pachyonychia Congenita Consortium Symposium.

Author's Reply: Pachyonychia Congenita Type 1: Case Report and Review of the Literature.

A novel KRT6A mutation in a case of pachyonychia congenita from India.

Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening.

[Pachyonychia congenita associated with renal artery stenosis and bronchiectasis].

Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature.

Peripheral neuropathic changes in pachyonychia congenita.

Laryngeal manifestations of pachyonychia congenita: a clinical case and discussion on management for the otolaryngologist.

Pachyonychia Congenita: New Classification and Diagnosis.

Pachyonychia congenita with late onset (PC tarda).

Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease.

Early severe pachyonychia congenita subtype PC-K6a with a novel mutation in the KRT6A gene.

Oxidative stress and dysfunctional NRF2 underlie pachyonychia congenita phenotypes.

Chronic Foot Pain due to Pachyonychia Congenita in a Pediatric Patient: A Successful Management Strategy.

Realizing Our Potential in Biobanking: Disease Advocacy Organizations Enliven Translational Research.

Pachyonychia Congenita Type 1: Case Report and Review of the Literature.

Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients.

p53 Is a Direct Transcriptional Repressor of Keratin 17: Lessons from a Rat Model of Radiation Dermatitis.

[Congenital pachyonychia: A new case associated with the KRT17 gene].

Identification of a CAST Mutation in a Cohort Previously Misdiagnosed as Having Autosomal Recessive Pachyonychia Congenita.

[Painful plantar keratoderma and onychodystrophy in caucasian young woman].

Jadassohn Lewandowsky Syndrome: A Rare Entity.

Imaging Functional Nucleic Acid Delivery to Skin.

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

Efficacy of botulinum toxin in pachyonychia congenita type 1: report of two new cases.

Can skin disease cause neuropathic pain? A study in pachyonychia congenita.

Focal PPK secondary to a novel KRT6C mutation (Pachyonychia congenita-K6c).

Therapy for dominant inherited diseases by allele-specific RNA interference: successes and pitfalls.

Non-Invasive Intravital Imaging of siRNA-Mediated Mutant Keratin Gene Repression in Skin.

A novel H1 mutation in keratin 6a in an infant with pachyonychia congenita.

[Clinical and molecular findings of pachyonychia congenita type 2 (PC-2)].

Olmsted syndrome: clinical, molecular and therapeutic aspects.

PCQoL: A Quality of Life Assessment Measure for Pachyonychia Congenita.

Advances in the therapeutic use of mammalian target of rapamycin (mTOR) inhibitors in dermatology.

A case of pachyonychia congenita with unusual manifestations: an unusual type or a new syndrome?

Gene expression profiling in pachyonychia congenita skin.

Keratins and skin disease.