research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
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30 / 292 resultsresearch Olmsted Syndrome: A Rare Keratinization Disorder
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
research Hypotrichosis in a Child with Olmsted Syndrome
A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
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 Two Novel MBTPS2 Missense Mutations Impairing S2P Proteolytic Activity Lead to IFAP Syndrome With New Phenotypic Anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes
A gene mutation causes early keratinocyte maturation leading to hair loss in Olmsted syndrome.
research Activation of TRPV3 Regulates Inflammatory Actions of Human Epidermal Keratinocytes
TRPV3 in skin cells causes inflammation and cell death.
research Cryo-EM and Molecular Dynamics of TRPV3 Channel in Activated State Reveal Structural Features Implicated in Severe Itch and Hyperkeratosis
The TRPV3 channel structure changes linked to severe itch and hyperkeratosis were identified using cryo-EM.
research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research Updated Strategies for the Management, Pathogenesis, and Molecular Genetics of Different Forms of Ichthyosis Syndromes with Prominent Hair Abnormalities
Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
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 A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
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 Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Hair Disorders
Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
research Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies
Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
research Index
The document is a detailed medical reference on skin and genetic disorders.
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 Painful Thickened Skin on the Soles of the Feet
The man has a genetic skin condition called pachyonychia congenita.
research Low-Level Laser Therapy for the Treatment of Male and Female-Pattern Hair Loss: A Review of Literature
Low-level laser therapy helps hair growth and reduces hair loss with few side effects.
research Pharmacological Activation of Thermo-Transient Receptor Potential Vanilloid 3 Channels Inhibits Hair Growth by Inducing Cell Death of Hair Follicle Outer Root Sheath
Activating TRPV3 channels stops hair growth by killing hair follicle cells.
research Perturbations in Fatty Acid Metabolism and Collagen Production Infer Pathogenicity of a Novel MBTPS2 Variant in Osteogenesis Imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research Development of Pigmented Reconstructed Human Epidermis Model Containing Human Melanoblasts from Keratinocyte Culture
The created skin model with melanoblasts improves the study of skin color and offers an alternative to animal testing.
research Behavior of the Two Circulating Androgens Testosterone and DHEA and Their Main Intracellular Metabolites in an Androgen-Sensitive Sebocyte Cell Line
Testosterone affects androgen receptors and lipid storage in cells, while DHEA does not convert to testosterone or affect these receptors in the same way.
research TRP Channels in Skin Biology and Pathophysiology
TRP channels in the skin are important for sensation and health, and targeting them could help treat skin disorders.
research Cholesterol Homeostasis: Links to Hair Follicle Biology and Hair Disorders
Cholesterol balance is important for hair health, and problems with it can lead to hair loss conditions.
research Analysis of the Relationship Between the Mutation Site of the SLC39A4 Gene and Acrodermatitis Enteropathica: A Case Report and Literature Review
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
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 Transient Stimulation of TRPV4-Expressing Keratinocytes Promotes Hair Follicle Regeneration in Mice
Activating TRPV4 in skin cells helps regrow hair in mice, possibly offering a treatment for hair loss.