Type 4 Woolly Hair-palmoplantar Keratoderma Syndrome with a Novel Phenotype.

Classifying novel DSG1 variants on disease severity in SAM syndrome and palmoplantar keratoderma.

Papillon-Lefèvre syndrome with excellent response to risankizumab.

Cutaneous Toxicities of Small Molecules in Targeted Cancer Therapy Part I - Mechanisms of Toxicity.

Cutaneous Toxicities of Small Molecules in Targeted Cancer Therapy Part II - Approach to Management and Treatment.

Sporadic Diffuse Palmoplantar Keratoderma in a Pediatric Patient With Early Onset: A Case Report.

GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis.

De Novo Germline L858R EGFR Variants and Generalized Acanthosis Nigricans.

Skin Fragility-Woolly Hair Syndrome (SFWHS): A Case Report.

Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in FAM83G.

A rare case of LORICRIN gene c.684dup mutation associated with Vohwinkel syndrome in a Turkish patient, in silico analysis and literature review.

Severe Dilated Cardiomyopathy with PLACK Syndrome Caused by a Novel Truncating Variant in the CAST Gene.

Atypical Presentation of Papillon-Lefèvre Syndrome: A Case of Isolated Cutaneous Manifestations Without Dental Involvement.

The roles of serine protease inhibitors in dermatoses.

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features.

Novel Compound Heterozygous Variants of DSP Causing Skin Fragility-Woolly Hair Syndrome: A Rare Case Report and Literature Review.

Papillon-Lefèvre Syndrome: Case Report of Two Sisters.

Bi-Allelic DSG1 Splice-Site Variant Identified in a Family With Non-Syndromic Striate Palmoplantar Keratoderma.

Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review.

Keratitis, Ichthyosis, and Deafness Syndrome with Endocarditis and Myelitis: A Rare Case Report.

SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature.

Palmoplantar keratoderma in a middle-aged male.

Naegeli-Franceschetti-Jadassohn Syndrome: A Case Report.

Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis and Knuckle Pads (PLACK) Syndrome: An Updated Review of Cases and Identification of a Recurrent CAST Variant in Two Patients.

A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in GJB6 gene.

NAXCARE: a clinical outcome registry for Naxos disease and related cardiocutaneous syndromes.

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

Noncompaction and dilated cardiomyopathy in carvajal syndrome.

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

Genotype and cardiac outcome in patients with cardiocutaneous syndrome (Naxos disease variant: Carvajal syndrome).

Naegeli-Franceschetti-Jadassohn syndrome: a systematic review of case studies.

AAV-mediated base editing restores cochlear gap junction in GJB2 dominant-negative mutation-associated syndromic hearing loss model.

Molecular insights into genodermatoses: Genetic findings from 43 patients.

Dental management of a young patient with Papillon-Lefèvre syndrome.

Variants in KLF4 affecting residue Asp441 cause an autosomal dominant syndromic ichthyosis.

Papillon-Lefèvre syndrome: palmoplantar keratoderma with teeth abnormalities.

Papillon-Lefevre syndrome: Case series.

Erlotinib therapy for Olmsted syndrome with p.L655P missense mutation in the TRPV3 gene: a case report.

TRPV3 Mutation-Associated Olmsted Syndrome in a Hispanic Patient: Response to Erlotinib and Review of Literature.

Naxos Disease and Related Cardio-Cutaneous Syndromes.

Cutaneous adverse events associated with BRAF and MEK inhibitors: a systematic review and meta-analysis.

Pathogenesis and management of TRPV3-related Olmsted syndrome.

A real-world pharmacovigilance study of Sorafenib based on the FDA Adverse Event Reporting System.

Resolution of paraneoplastic palmoplantar keratoderma after treating mixed serous neuroendocrine tumor of the pancreas: a case report and literature review.

The cumulative effect of compound heterozygous variants in TRPV3 caused Olmsted syndrome.

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

Long-Term Surgical Success in Treating Vohwinkel Syndrome: A Case Report.

Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma.

Pharmacological inhibition of cathepsin S and of NSPs-AAP-1 (a novel, alternative protease driving the activation of neutrophil serine proteases).

Biallelic pathogenic variants in the LSS gene cause congenital alopecia-cataract syndrome.

Olmsted Syndrome in a 12-year-old Filipino Male: A Case Report and Future Directions.

[Thorns in hands, think in spiny keratoderma].

Cutting Through Complexity: Surgical Management of Severe Palmoplantar Keratoderma.

Cathepsin C in health and disease: from structural insights to therapeutic prospects.

Coincidence of acral peeling skin syndrome and Nagashima-type palmoplantar keratosis in a Japanese pedigree with acral skin peeling.

Novel TRPV3 loss-of-function mutation in Olmsted syndrome with attenuated phenotype.

CASTing the net wider: A case report of PLACK syndrome associated with dilated cardiomyopathy.

[Palmoplantar dermatoses: Diagnostic approach in primary care].

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

A Case of Palmoplantar Keratoderma in the Constellation of Connective Tissue Diseases.

Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.

Paraneoplastic Eczematous Dermatitis With Palmoplantar Keratoderma as an Initial Manifestation of Acute Myeloid Leukemia.

Acquired Aquagenic Syringeal Keratoderma Following COVID-19 Infection.

A case of Carvajal syndrome presenting with dilated cardiomyopathy.

Pathological mutations reveal the key role of the cytosolic iRhom2 N-terminus for phosphorylation-independent 14-3-3 interaction and ADAM17 binding, stability, and activity.

Aesthetic oral rehabilitation of the upper-anterior sector with supra-nano filling resin in a patient with woolly hair syndrome: case report.

Self-reported clinical features and treatment effectiveness of Papillon-Lefèvre syndrome patients from five Latin American countries: A cross-sectional online survey study.

The oral microbiome of a family including Papillon-Lefèvre-syndrome patients and clinically healthy members.

Papillon-Lefevre syndrome in twelve Egyptian patients: Five novel CTSC variants and functional characterization of a missense variant and its effect on splicing.

Recalcitrant skin ulcers in a patient with Papillon-Lefèvre syndrome: an unusual novel presentation.

Identification of a novel frameshift mutation in cathepsin C gene in a patient with coexisting Papillon-Lefevre syndrome and rheumatoid arthritis.

A machine learning approach to predict the glaucoma filtration surgery outcome.

Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation.

The identification of a novel mutation (p.I223fs) in WRN associated with Werner syndrome.

Palmoplantar keratoderma, pseudo-ainhum and knuckle pads in an African patient: A case report.

A Novel Variant in the Desmoplakin Gene in One Case of the Rare Carvajal Syndrome with Dilated Cardiomyopathy: A Case Report and Literature Review.

Pachyonychia Congenita: Clinical Features and Future Treatments.

Cathepsin C role in inflammatory gastroenterological, renal, rheumatic, and pulmonary disorders.

Possible relation of cathepsin C activity and seasonal fluctuation of skin lesions in Papillon-Lefèvre syndrome.

Recessive mutation on mouse chromosome 13 associated with abnormal hair texture and cardiomyopathy.

Cohen syndrome coincident with epidermolytic palmoplantar keratoderma caused by novel KRT9 gene mutation: A rare case report.

Recent developments in the diagnosis, treatment, and management of Papillon-Lefèvre Syndrome.

Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature.

Unexpected Adverse Events of Immune Checkpoint Inhibitors.

Multiple keratotic projections on the palms and soles.

Cathepsin-C mutation in an individual with phenotypic features of Haim-Munk syndrome: a case report.

A case of LSS-associated congenital nuclear cataract with hypotrichosis and literature review.

Desmoplakin mutation underlying autosomal dominant arrhythmogenic cardiomyopathy, palmoplantar keratoderma, and curly hair.

A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1.

A truncating variant altering the extreme C-terminal region of desmoplakin (DSP) suggests the crucial functional role of the region: a case report study.

Ichthyosis Follicularis with Alopecia and Photophobia Syndrome with Coexisting Palmoplantar Keratoderma Treated with Acitretin.

[Acute soft Tissue Infection with impending Loss of Finger in amniotic Band Syndrome of a 22-years-old Patient with palmoplantar Keratoderma congenital Alopecia Syndrome Type II].

4-octyl itaconate improves the viability of D66H cells by regulating the KEAP1-NRF2-GCLC/HO-1 pathway.

Nevus Sebaceous with Multiple Basal Cell Carcinomas and Extracutaneous Abnormalities: Genetic Origin or Coincidence?

Biallelic mutations in LSS in autosomal-recessive mutilating palmoplantar keratoderma.

A Novel Heterozygous Desmoplakin Variant Causes Cardiocutaneous Syndrome with Arrhythmogenic Cardiomyopathy and Palmoplantar Keratosis.

Low dose TGF-β1 can improve vohwinkel syndrome by promoting the proliferation of keratinocytes.

Two for two: Dual therapy with erlotinib and acitretin for twins with severe keratoderma in Olmsted syndrome.

Multidisciplinary management of Papillon-Lefevre syndrome as a result of consanguineous marriage.

An intronic splice-site variant in MBTPS2 underlies ichthyosis follicularis with atrichia and photophobia syndrome.

Dimethyl fumarate for treating Papillon-Lefèvre syndrome.

Bart-Pumphrey syndrome and recurrent cholesteatoma: a casual association?

Case report: Corticosteroids as an adjunct treatment for the management of liver abscess in Papillon-Lefèvre syndrome: A report on two cases.

Olmsted syndrome causing point mutants of TRPV3 (G568C and G568D) show defects in intracellular Ca2+-mobilization and induce lysosomal defects.

Abnormal profiles of cathepsin C secreted in urine of Papillon Lefevre syndrome patients.

Case Report: A Novel GJB2 Missense Variant Inherited From the Low-Level Mosaic Mother in a Chinese Female With Palmoplantar Keratoderma With Deafness.

Fixed prosthetic rehabilitation of a patient with Papillon-Lefevre syndrome supported by a Quad Zygoma Approach: A clinical report.

Treatment of TRPV3 mutation-associated Olmsted syndrome with erlotinib.

Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.

Spiny Keratoderma as a Paraneoplastic Condition in Clear Cell Renal Cell Carcinoma.

Palmar whitish change after water exposure in a familial mild case of loricrin keratoderma (loricrin ichthyosis).

Early diagnosis of Schöpf-Schulz-Passarge syndrome by whole-exome sequencing: the first Chinese case.

[Clinical Characteristics and Gene Mutations in 186 Cases of Kindler Syndrome].

Neuroimaging in CEDNIK Syndrome: A Rare Neuro-Ichthyosis.

ALA-iPDT for follicular occlusion tetrad concomitant with pachyonychia congenital type Ⅱ and ankylosing spondylitis.

Dermoscopic furrow ink test of the palmar lesion in loricrin keratoderma.

Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2.

Ichthyosis follicularis syndromes in patients with mutations in GJB2.

Premature Loss of Deciduous Teeth as a Symptom of Systemic Disease: A Narrative Literature Review.

Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity.

Palmoplantar keratoderma: An unusual manifestation of hypohydrotic ectodermic dysplasia.

Targeting Cathepsin C in PR3-ANCA Vasculitis.

Type 4 Woolly Hair-Palmoplantar Keratoderma Syndrome: A Rare Entity.

Snapshots from within the cell: Novel trafficking and non trafficking functions of Snap29 during tissue morphogenesis.

CEDNIK syndrome with phenotypic variability.

Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.

Carvajal Syndrome- A Variant of Naxos Disease: A Case Report.

Annular Epidermolytic Ichthyosis Mimicking Greither Disease: A Case Report and Literature Review.

A 45-year-old man with sudden cardiac death, cutaneous abnormalities and a rare desmoplakin mutation: a case report and literature review.

Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1.

CEDNIK syndrome in a Brazilian patient with compound heterozygous pathogenic variants.

Case of Olmsted Syndrome with Essential Thrombocytosis Misdiagnosed as Acrodermatitis Enteropathica.

Comorbid palmoplantar keratoderma type 1A and Loeys-Dietz syndrome type 3 in a patient with a chromosome 15 microdeletion.

Skin and Mucosal Manifestations in NEMO Syndrome: A Case Series and Literature Review.

CEDNIK Syndrome: Report of an Ultra-Rare Case from India.

[Genetics of complex and syndromic palmoplantar keratoderma].

A rare CTSC mutation in Papillon-Lefèvre Syndrome results in abolished serine protease activity and reduced NET formation but otherwise normal neutrophil function.

Arrhythmogenic Right Ventricular Cardiomyopathy in Pediatric Patients: An Important but Underrecognized Clinical Entity.

Connexin hemichannel inhibition ameliorates epidermal pathology in a mouse model of keratitis ichthyosis deafness syndrome.

Simulated patients and their reality: An inquiry into theory and method.

Ichthyosis, psoriasiform dermatitis, and recurrent fungal infections in patients with biallelic mutations in PERP.

Papillon-Lefevre syndrome treated by acitretin: case report and cytokine profile.

Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients.

Mutations in SAM syndrome and palmoplantar keratoderma patients suggest genotype/phenotype correlations in DSG1 mutations.

Identification of a Rare Case With Nagashima-Type Palmoplantar Keratoderma and 18q Deletion Syndrome via Exome Sequencing and Low-Coverage Whole-Genome Sequencing.

The first case report of Haim Munk disease with neurological manifestations and literature review.

Woolly hair nevus caused by somatic mutation and Costello syndrome caused by germline mutation in HRAS: Consider parental mosaicism in prenatal counseling.

Olmsted Syndrome: Case Report of Nursing Management of Premature Twins.

Oral Phenotype and Salivary Microbiome of Individuals With Papillon-Lefèvre Syndrome.

Acral peeling in Nagashima type palmo-plantar keratosis patients reveals the role of serine protease inhibitor B 7 in keratinocyte adhesion.

Differential Pathomechanisms of Desmoglein 1 Transmembrane Domain Mutations in Skin Disease.

Desmoplakin and clinical manifestations of desmoplakin cardiomyopathy.

Novel Compound Heterozygous Mutations in CTSC Gene in a Chinese Family with Papillon-Lefevre Syndrome.

[Analysis of clinical feature and genetic basis of a rare case with Olmsted syndrome].

Olmsted Syndrome: Response to erlotinib therapy and genotype/phenotype correlation.

Generation and Characterization of a CRISPR/Cas9-Mediated SNAP29 Knockout in Human Fibroblasts.

Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review.

Paraneoplastic pemphigus associated with post-transplant lymphoproliferative disorder after small bowel transplantation.

Survival Rates of Dental Implants in Patients with Papillon-Lefévre Syndrome: A Systematic Review.

New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra.

A novel missense variant in cathepsin C gene leads to PLS in a Chinese patient: A case report and literature review.

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

Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes.

Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization.

What's the resolutive surgery for pseudo-ainhum in Vohwinkel syndrome? A case report and review of the literature.

Drug-induced hypersensitivity syndrome/drug reaction with eosinophilia and systemic syndrome followed by transient palmoplantar keratoderma-like eruption.

A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon-Lefevre syndrome.

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

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

Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant.

Hereditary Hearing Impairment with Cutaneous Abnormalities.

Nagashima-Type Palmoplantar Keratosis with Compound Heterozygous Mutations in SERPINB7.

Schöpf-Schulz-Passarge syndrome with multiple angiomas on the tongue: a new feature?

Diagnosis of Papillon-Lefèvre syndrome: review of the literature and a case report.

Twenty-Nail-Dystrophy / Trachyonychia: a case report in a five year old girl seen at the Paediatric Out-patient Department of a Tertiary Hospital in Lafia North-Central Nigeria.

Variant NAXOS-Carvajal Syndrome with Rare Additional Features of Systemic Bulla and Brittle Nails: A Case Report and Literature Review.

Tripe Palms: A Rare Cutaneous Paraneoplastic Disorder.

iRHOM2: A Regulator of Palmoplantar Biology, Inflammation, and Viral Susceptibility.

A novel frameshift mutation in the FERMT1 gene in a Chinese patient with Kindler syndrome.

Connexin 26 missense mutation resulting in syndromic hearing loss with palmoplantar keratoderma.

Genotype‒Phenotype Correlation of TRPV3-Related Olmsted Syndrome.

Desmosomal protein regulation and clinical implications in oral mucosal tissues.

Familial Richner-Hanhart syndrome: Report of a sibling with incomplete presentation.

Classical Vohwinkel syndrome with heterozygous p.Asp66His mutation in GJB2 gene: Second Asian case.

Huriez syndrome associated with basal cell carcinoma. A case report.

Primary Immunodeficiencies With Defects in Innate Immunity: Focus on Orofacial Manifestations.

Papillon-Lefèvre syndrome (PLS) with novel compound heterozygous mutation in the exclusion and Peptidase C1A domains of Cathepsin C gene.

Classification of aplasia cutis congenita: a 25-year review of cases presenting to a tertiary paediatric dermatology department.

Japanese case of Papillon-Lefèvre syndrome with novel compound heterozygous mutations.

KLICK Syndrome Linked to a POMP Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease.

Novel p.Ala675Thr missense mutation in TRPV3 in Olmsted syndrome.

Eccrine syringofibroadenoma as a clue for the diagnosis of Schöpf-Schulz-Passarge syndrome in acquired palmoplantar keratoderma.

Novel homozygous deletion of the plakophilin-1 gene in a Chinese patient with ectodermal dysplasia-skin fragility syndrome.

A DSG1 Frameshift Variant in a Rottweiler Dog with Footpad Hyperkeratosis.

AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect.

Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndrome.