research Structural and Biochemical Changes Underlying a Keratoderma-Like Phenotype in Mice Lacking Suprabasal AP1 Transcription Factor Function
Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.
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research Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research Resolution of Pseudoainhum with Acitretin Therapy in a Patient with Palmoplantar Keratoderma and Congenital Alopecia
Acitretin helped improve hand mobility and skin condition in a patient.
research RSPO1-Mutated Keratinocytes From Palmoplantar Keratoderma Display Impaired Differentiation and Invasiveness: Implications for Squamous Cell Carcinoma Susceptibility in Patients With 46XX Disorder of Sexual Development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
research DSP c.6310delA p.(Thr2104Glnfs*12) Associates With Arrhythmogenic Cardiomyopathy, Increased Trabeculation, Curly Hair, and Palmoplantar Keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Ichthyosis Follicularis With Alopecia And Photophobia Syndrome With Coexisting Palmoplantar Keratoderma Treated With Acitretin
A girl with a rare skin condition improved after one month of treatment with acitretin.
research Wooly Hair Palmoplantar Keratoderma: A Case Report
Topical 6% salicylic acid effectively reduced skin plaques in a patient with wooly hair and palmoplantar keratoderma.
research A Generalized Reticulate Eruption with Scarring Alopecia, Vulvovaginitis, Keratoderma, and 20-Nail Dystrophy in a 70-Year-Old Woman
Treatment improved some symptoms but not all.
research Pattern of Dermatological Involvement in Early Postmenopausal Period: A Cross-Sectional Study
Early postmenopausal women often experience skin issues like vaginal dryness, swallowing difficulties, hair loss, and uncommonly, keratoderma and hirsutism, but many are unaware these are related to menopause.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Characterizing Disease Features and Other Medical Diagnoses in Patients With Pityriasis Rubra Pilaris
PRP patients show varied symptoms and need more research to understand related conditions.
research Severe, Disfiguring, Pityriasis Rubra Pilaris in a Woman in the Dominican Republic
A woman with HIV had a severe skin condition that improved with antiretroviral therapy.
research A Combination of Low-Dose Systemic Etretinate and Topical Calcipotriol/Betamethasone Dipropionate Treatment for Hyperkeratosis and Itching in Olmsted Syndrome Associated with a TRPV3 Mutation
The combined treatment effectively managed severe skin issues in Olmsted syndrome.
research Alopecia Areata: Hair and Nail Findings in a Patient Undergoing Talquetamab Therapy for Multiple Myeloma
Talquetamab may cause hair loss and skin issues.
research Skin Aging in Women: Pathophysiology and Treatment
The document concludes that skin aging in women can be caused by UV exposure and hormonal changes, and treatments like hormone replacement therapy and various skin therapies can help.
research Botulinum Toxin Off-Label Use in Dermatology: A Review
Botulinum toxin shows promise for various skin conditions but requires more research for confirmation and standardized use.
research Disorders of Keratinization
Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
research Phenotypic Variability Associated with WNT10A Nonsense Mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
research The Twisting Tale of Woolly Hair: A Trait with Many Causes
New genes linked to woolly hair have been found, which could help treat it and change hair texture.
research Pityriasis Rubra Pilaris: A Study Evaluating Patient Quality of Life in Two Populations
Pityriasis rubra pilaris significantly worsens quality of life more than many other health conditions.
research Dermatopathia Pigmentosa Reticularis: A Rare Reticulate Pigmentary Disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research Papillon-Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature
Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
research Lichen Spinulosus: Case Report and Review of Literature
A 12-year-old boy's rare skin condition improved with topical treatments and may resolve by puberty.
research Building Models for Keratin Disorders
Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
research Keratin 17-Related Recessive Atypical Pachyonychia Congenita with Variable Hair and Tooth Anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Resolution of Plantar Hyperkeratosis of Pachyonychia Congenita During Chemotherapy for Ewing Sarcoma
Chemotherapy improved a girl's painful foot condition linked to pachyonychia congenita.
research Ichthyosiform Erythroderma: A Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research Circumscribed Juvenile Pityriasis Rubra Pilaris in a 5-Year-Old Girl Treated with Topical Keratolytic and Steroid
A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.
research Study of Cutaneous Manifestations in Thyroid Disorders
Skin problems are common in thyroid disorders, with dry skin in hypothyroidism and warm, soft skin in hyperthyroidism.