research Expanding The Phenotype Of Hyper-IgE Syndrome: Heterozygous Variant In IL6ST With Elevated Serum IgE And Isolated Abscesses
A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
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research Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies
Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
research Essential Role of STAT3 Signaling in Hair Follicle Homeostasis
STAT3 signaling is important for healthy skin and hair follicles, and its disruption can lead to skin conditions like atopic dermatitis.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Efficacy of Dupilumab in Treating Atopic Dermatitis With Recurrent Eczema Herpeticum in a Patient With DOCK8-Deficiency Hyper-IgE Syndrome: A Case Report
Dupilumab helped improve skin and prevent new lesions in a child with a rare immune disorder and severe eczema.
research The Gene for Autosomal Dominant Hidrotic Ectodermal Dysplasia (Clouston Syndrome) in a Large Indian Family Maps to the 13q11-q12.1 Pericentromeric Region
The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome: A Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research Topical Fluocinolone Acetonide Acetate Ointment in Autosomal Dominant Congenital Hypotrichosis
A hair growth ointment improved hair length in a family with a genetic hair growth condition.
research Androgenetic Alopecia: An Autosomal Dominant Disorder
Hair loss in androgenetic alopecia is caused by genetic factors and androgen excess, and can be treated with combined therapies.
research Germline Mutation in ATR in Autosomal-Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research An Incompletely Penetrant Novel MAFB (p.Ser56Phe) Variant in Autosomal Dominant Multicentric Carpotarsal Osteolysis Syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research A Novel Monilethrix Mutation in Coil 2A of KRT86 Causing Autosomal Dominant Monilethrix with Incomplete Penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
research A Nonsense Variant In KRT31 Is Associated With Autosomal-Dominant Monilethrix
A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
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 Autosomal Recessive Monilethrix: Novel Variants of the DSG4 Gene in Three Chinese Families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Loose Anagen Hair as a Cause of Hereditary Hair Loss in Children
Loose Anagen Hair Syndrome is a hereditary condition causing hair loss in children due to abnormal hair follicles.
research Congenital Hypotrichosis Due to Short Anagen Phase
Some children are born with unusually short, fine hair because their hair growth phase is short, but this often gets better by itself during puberty.
research Eruptive Vellus Hair Cysts: A Systematic Review
Eruptive vellus hair cysts are a cosmetic skin condition, more common in young adults, with few effective treatments.
research Familial Nonmembranous Aplasia Cutis of the Scalp
Some families have a genetic condition where they are born with irregular scalp defects.
research Loose Anagen Syndrome And Loose Anagen Hair
Loose Anagen Syndrome causes easy-to-pull, thin hair, mainly in young girls, and improves with age.
research Novel PAX9 Mutation Associated with Syndromic Tooth Agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research Pseudopelade: An Inherited Alopecia
Pseudopelade is a rare inherited hair loss condition with a genetic cause.
research Marie-Unna Hereditary Hypotrichosis: Case Report and Review of the Literature
An 18-year-old girl was diagnosed with a rare hereditary hair loss condition, despite no family history.
research Monilethrix: A Rare Hereditary Condition
Monilethrix is a rare genetic hair disorder that's hard to treat.
research Short Anagen Hair Syndrome
Short Anagen Syndrome causes persistently short hair and increased shedding, usually improving after puberty.
research Tracing Selection Signatures in the Pig Genome Provides Evidence for Selective Pressures on a Unique Curly Hair Phenotype in Mangalitza
Selective breeding caused the unique curly hair in Mangalitza pigs.
research Identification of a Novel Heterozygous Mutation in the First Japanese Case of Marie Unna Hereditary Hypotrichosis
Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research Acquired Uncombable Hair Syndrome in a 39-Year-Old Woman
A woman's hair changed to a dry, tangled texture that's hard to comb after treatment with spironolactone, suggesting the medication might cause such hair changes.
research Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity
A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.