research Disorders of Keratinization
Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
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180-210 / 1000+ resultsresearch Oral Treatment of Keratinizing Disorders of Skin and Mucous Membranes With Etretinate
Etretinate was effective for certain skin conditions, but caused side effects like chapped lips, dry mucous membranes, and hair loss.
research Expanding the Phenotypic Spectrum of Olmsted Syndrome
TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
research The spectrum of cutaneous adverse events during encorafenib and binimetinib treatment in B‐rapidly accelerated fibrosarcoma‐mutated advanced melanoma
The combination of encorafenib and binimetinib caused few skin issues.
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 2 populations
Pityriasis rubra pilaris significantly worsens quality of life more than many other health conditions.
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 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 Prospective Case Series of Cutaneous Adverse Effects Associated With Dabrafenib and Trametinib
Patients on dabrafenib and trametinib for melanoma often experience skin side effects.
research Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Building Models for Keratin Disorders
Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
research Follicular cysts and hyperkeratoses in early mycosis fungoides
Acitretin effectively improved the woman's skin condition.
research Olmsted syndrome
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
research Vitamins
Taking too much vitamin A can cause health problems like bone pain and hair loss.
research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
research When Rare Meets Risky: Clouston Syndrome with Cutaneous Squamous Cell Carcinoma
Clouston syndrome can lead to skin cancer, so monitoring is crucial.
research Ectodermal Dysplasia: Variable Expressions
Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
research Surgical Management of Severe Cicatricial Ectropion Secondary to Pityriasis Rubra Pilaris.
Surgery can effectively treat severe eyelid turning out caused by a rare skin disorder.
research Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research 394 Differential associations of psoriasis subtypes with autoimmune disorders in United States children and adults: A cross-sectional study
People with all types of psoriasis are more likely to have autoimmune diseases than those without psoriasis.
research IL-17 axis is a significant driver of skin inflammation in Card14 mutant pityriasis rubra pilaris model mice
Blocking IL-17 can reduce skin inflammation in a mouse model of pityriasis rubra pilaris.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research GC-TOF/MS-Based Metabolomics for Comparison of Volar and Non-Volar Skin Types
Different types of skin on mice have unique chemical profiles related to how they grow and react to stress.
research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research Clouston’s Syndrome-A Case Report
Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.