research Poster Presentations SG11 KRT14 Pathogenic Or Likely Pathogenic Variants Beyond Epidermolysis Bullosa: Dermatopathia Pigmentosa Reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
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research Degeneration in Dermatopathology
The document concludes that understanding tissue degeneration is crucial for diagnosing skin lesions.
research A New Heterozygous Frameshift Variant in Keratin 10 Resulting in Ichthyosis Hystrix in a Father and Daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Pachyonychia Congenita: Sporadic Onset With Mutation Analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research Painful Thickened Skin on the Soles of the Feet
The man has a genetic skin condition called pachyonychia congenita.
research Porokeratotic Adnexal Ostial Nevus: A Paradigm of Cutaneous Mosaicism
PAON shows skin patterns due to genetic mosaicism.
research A Rare Case of Keratosis Follicularis Spinulosa Decalvans Affecting a Female Child
A girl with a rare skin condition called Keratosis Follicularis Spinulosa Decalvans showed no significant improvement with treatment.
research Faculty Opinions Recommendation of Loss of Desmocollin 3 in Mice Leads to Epidermal Blistering
Loss of Desmocollin 3 in mice causes skin blisters and hair loss.
research Fibroblasts: Origins, Definitions, and Functions in Health and Disease
Fibroblasts are crucial for tissue repair and inflammation, and understanding them can help treat fibrotic diseases.
research Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair
Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
research The Expanding Significance of Keratin Intermediate Filaments in Normal and Diseased Epithelia
Keratin proteins are increasingly recognized as important for cell health and are linked to many diseases.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research RASopathic Skin Eruptions During Vemurafenib Therapy
Vemurafenib causes skin side effects similar to RASopathies, requiring regular skin checks and UVA protection.
research Rapidly Progressing Mycosis Fungoides Presenting as Follicular Mucinosis
Follicular mucinosis can be an early sign of aggressive mycosis fungoides.
research Keratins and Skin Disease: Genetic and Molecular Roles
Keratin mutations cause skin diseases and could lead to new treatments.
research The Genetics Of Alopecia Areata: New Approaches, New Findings, New Treatments
New genetic discoveries may lead to better treatments for alopecia areata.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome
Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
research Photobiomodulation Therapy in Management of Cancer Therapy-Induced Side Effects: WALT Position Paper 2022
Photobiomodulation therapy helps manage cancer treatment side effects but needs more research for optimization.
research Comparative Genome Analyses Reveal the Unique Genetic Composition and Selection Signals Underlying the Phenotypic Characteristics of Three Chinese Domestic Goat Breeds
Chinese domestic goats have unique genetic traits due to domestication and geographic isolation.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research Cure of Alopecia Areata After Eradication of Helicobacter Pylori: A New Association?
Treating H. pylori infection might help cure alopecia areata.
research 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
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Immunopathology and Immunotherapy of Inflammatory Skin Diseases
New targeted immunotherapies are improving treatment for inflammatory skin diseases.
research Hidradenitis Suppurativa and Comorbid Disorder Biomarkers, Druggable Genes, New Drugs and Drug Repurposing—A Molecular Meta-Analysis
The study found key factors in the cause of hidradenitis suppurativa, its link to other diseases, and identified existing drugs that could potentially treat it.
research Prophylaxis and Management of Skin Toxicities
Preventive measures and effective management are crucial for reducing skin side effects in cancer treatment.
research A Rare Case of Woolly Hair with Unusual Associations
The document reports a unique case of woolly hair with a combination of conditions not previously seen together.
research Skin Tissue Engineering: Potential of Stem Cell Biology and Skin Morphogenesis
Improved understanding of stem cell mechanisms can enhance skin tissue engineering.
research A Novel Mutation in ST14 at a Functionally Significant Amino Acid Residue Expands the Spectrum of Ichthyosis-Hypotrichosis Syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Concomitant Occurrence of Acneiform Eruption, Alopecia Areata, and Urticaria During Adalimumab Treatment in a Patient With Pustulosis Palmoplantaris: Case Report and Literature Review
A patient with PPP had rare skin reactions to adalimumab, which improved after stopping smoking and continuing acitretin.