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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30 / 495 results research Spiny keratoderma ‐ a demonstration of hair keratin and hair type keratinization
Spiny keratoderma may be ectopic hair formation on palms and soles.
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, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: 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 Spiny Keratoderma
Spiny keratoderma is a rare skin condition with small spines on palms and soles, possibly linked to abnormal hair formation.
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 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 Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Different gene mutations cause different types of ichthyosis, with some new mutations found.
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 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 Skin Ageing 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 Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
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 Keratosis Follicularis Spinulosa Decalvans Associated with Acne Keloidalis Nuchae and Tufted Hair Folliculitis
KFSD can be linked to acne keloidalis nuchae and tufted hair folliculitis.
research A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
research Phenotypic variability associated withWNT10Anonsense mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
research Expanding the Phenotypic Spectrum of Olmsted Syndrome
TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
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 Chronic Arsenicism: Criminal Poisoning or Drug-Intoxication?
Arsenic poisoning can be caused by both criminal acts and certain medical treatments.
research Pityriasis rubra pilaris: A study evaluating patient quality of life in 2 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.