research Two Familial Cases of Olmsted-Like Syndrome with a G573V Mutation of the TRPV3 Gene
A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
Search
for
Sort by
Research
30 / 298 resultsresearch 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 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 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 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 Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies
Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
research Hair Disorders
Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
research Skin
Skin problems are common in Lupus patients and can indicate the disease's severity, requiring specific treatments and lifestyle changes.
research Management of Hidradenitis Suppurativa
Treating hidradenitis suppurativa needs long-term care and teamwork among doctors, but there's a lack of strong guidance on how to do it.
research Alopecia Areata: Current Review
Alopecia Areata has no cure, treatments are limited, and the condition often recurs, but new therapies like JAK inhibitors show promise.
research Hidradenitis Suppurativa, Acne Inversa, Dissecting Terminal Hair Folliculitis
Hidradenitis Suppurativa is a chronic skin condition best treated early with surgery for better outcomes and less recurrence.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Clinical and Genetic Aspects of Alopecia Areata: A Cutting Edge Review
Hair loss from Alopecia Areata is caused by both genes and environment, with several treatments available but challenges in cost and relapse remain.
research Olmsted Syndrome: A Rare Keratinization Disorder
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
research Activation of TRPV3 Regulates Inflammatory Actions of Human Epidermal Keratinocytes
TRPV3 in skin cells causes inflammation and cell death.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Comorbidities in Alopecia Areata: A Systematic Review and Meta-Analysis
People with alopecia areata often have other health issues like skin diseases, metabolic syndrome, stomach infections, lupus, anemia, thyroid problems, mental health issues, vitamin D deficiency, and hearing and eye problems.
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 Skin Disease Related to Metabolic Syndrome in Women
Certain skin conditions in women are linked to higher risks of metabolic syndrome and type 2 diabetes due to hormone imbalances.
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 Common Urologic Diseases in Older Men and Their Treatment: How They Impact Fertility
Urologic diseases and treatments in older men can negatively affect fertility, and doctors should talk to patients about this.
research New Populations with Increased Cardiovascular Risk: Cardiovascular Disease in Dermatological Conditions
Some skin conditions may increase the risk of heart disease, but are not yet included in cardiovascular prevention guidelines.
research Hair Disorders
Different hair disorders have specific treatments and outcomes, with some resolving on their own and others requiring medication or emotional support.
research Comprehensive Overview of Hidradenitis Suppurativa
The document concludes that lifestyle changes and medical treatments can significantly reduce symptoms of Hidradenitis Suppurativa, a chronic skin condition.
research Follicular Neutrophilic Inflammation in Hidradenitis Suppurativa
Hidradenitis Suppurativa is likely an autoinflammatory disease, and better understanding its causes could improve treatments.
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.