research Vulvovaginal Involvement in Netherton Syndrome: A Case Report
Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.
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150-180 / 195 results research Collodion Baby Case Series: The Success of Oral Retinoic Acid
Oral retinoic acid effectively treated collodion baby, with hair loss as the main side effect.
research Chronic Ulceration of the Scalp Associated with Genetically Different Types of Congenital Ichthyosis: A Series of Four Cases
Some scalp sores are linked to different inherited skin conditions.
research Novel Association of Trichothiodystrophy With Autoimmune Thyroiditis and Autoimmune Hemolytic Anemia: A Case Report
A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
research Genes of Congenital Dermatologic Disorders in Dogs: A Review
Over half of the dog skin disorders discussed have known gene variants, enabling genetic testing for diagnosis and responsible breeding.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of KRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
research An Update of Hair Shaft Disorders
Advances in genetics may lead to targeted treatments for hair disorders.
research NIPAL4 Deletion Identified in an American Bully with Autosomal Recessive Congenital Ichthyosis and Response to Topical Therapy
An American Bully with a genetic skin condition improved significantly with specific topical treatments.
research Novel Mutations of the ABCA12, KRT1 and ST14 Genes in Three Unrelated Newborns Showing Congenital Ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Graham-Little Piccardi Lassueur Syndrome and Review of the Literature
GLPLS is a rare skin condition with specific hair loss and skin symptoms.
research Peeling Paint Dermatosis in a Leukemia Patient
A leukemia patient showed skin peeling similar to kwashiorkor, a severe protein deficiency.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research Graham-Little Piccardi Lassueur Syndrome and Review of the Literature
Graham-Little Piccardi Lassueur Syndrome is a rare skin condition with specific hair loss and skin symptoms.
research Cell Death by Cornification
Cornification is how skin cells die to form the protective outer layer of skin, hair, and nails.
research Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia
The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
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 Netherton's Syndrome: A Syndrome of Elevated IgE and Characteristic Skin and Hair Findings
Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
research Loss of Epidermal Evi/Wls Results in a Phenotype Resembling Psoriasiform Dermatitis
Loss of a specific protein in skin cells causes symptoms similar to psoriasis.
research Mutations in the Helix Termination Motif of Mouse Type I IRS Keratin Genes Impair the Assembly of Keratin Intermediate Filament
Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
research Expression and Function of Group IIE Phospholipase A2 in Mouse Skin
sPLA2-IIE is crucial for normal hair follicle structure and skin health.
research Transglutaminase 3: The Involvement in Epithelial Differentiation and Cancer
TGM3 is important for skin and hair structure and may help diagnose cancer.
research Genetically Modified Laboratory Mice with Sebaceous Glands Abnormalities
Genetic changes in mice help understand skin and hair disorders, aiding treatment development for acne and hair loss.
research New Developments in the Molecular Treatment of Ichthyosis: Review of the Literature
New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
research Cyclic Alopecia and Abnormal Epidermal Cornification in Zdhhc13-Deficient Mice Reveal the Importance of Palmitoylation in Hair and Skin Differentiation
The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.
research Efficient In Vitro Transfection of Human Keratinocytes with an Adenovirus-Enhanced Receptor-Mediated System
The AVET system effectively delivers genes to human keratinocytes and may help treat skin diseases.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Laminin 332 Is Indispensable for Homeostatic Epidermal Differentiation Programs
Laminin 332 is essential for normal skin cell behavior and structure.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
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.