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.
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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 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.
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 Literatures
A 12-year-old boy's rare skin condition improved with topical treatments and may resolve by puberty.
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 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 Follicular cysts and hyperkeratoses in early mycosis fungoides
Acitretin effectively improved the woman's skin condition.
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 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 Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
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 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.
research KRT16 wt Allele
Mutations in the KRT16 gene can cause skin and nail disorders.
research Cirmcumscribed 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.
research Woolly Hair in Two Siblings
Two siblings have a rare genetic condition causing curly, coarse hair.
research Olmsted syndrome
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.