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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30 / 366 resultsresearch Olmsted syndrome
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
research Pathogenesis and management of TRPV3-related Olmsted syndrome
EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.
research 738 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 Activation of TRPV3 Regulates Inflammatory Actions of Human Epidermal Keratinocytes
TRPV3 in skin cells causes inflammation and cell death.
research Expanding the Phenotypic Spectrum of Olmsted Syndrome
TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
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 Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
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 Cutaneous manifestations of systemic infection in children
Skin symptoms are important for diagnosing infections in children.
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 Preventing the Development of Complex Regional Pain Syndrome after Surgery
Preoperative pain assessment, regional anesthesia, and vitamin C can help prevent CRPS after surgery.
research Diseases associated with hidranitis suppurativa: part 2 of a series on hidradenitis
Hidradenitis suppurativa is linked to various diseases like obesity, depression, arthritis, and Crohn's disease, but often occurs alone.
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 Nuevas poblaciones con riesgo cardiovascular aumentado: enfermedad cardiovascular en las enfermedades dermatológicas
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 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 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 Skin
Skin problems are common in Lupus patients and can indicate the disease's severity, requiring specific treatments and lifestyle changes.
research Hidradenitis Suppurativa
The document concludes that lifestyle changes and medical treatments can significantly reduce symptoms of Hidradenitis Suppurativa, a chronic skin condition.
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 Follicular Neutrophilic Inflammation (Hidradenitis Suppurativa)
Hidradenitis Suppurativa is likely an autoinflammatory disease, and better understanding its causes could improve treatments.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
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 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 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 Metabolic syndrome in alopecia areata: an observational study at a tertiary care center
There is no significant link between metabolic syndrome and alopecia areata.
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.