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.
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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 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 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 Short Anagen Hair Syndrome
Short Anagen Syndrome causes persistently short hair and increased shedding, usually improving after puberty.
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 Marie-Unna Hereditary Hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
research Missense Mutation Y449H of the K10 Gene in a Patient with Severe Epidermolytic Ichthyosis
A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
research A New Clinical Variant of Hereditary Localized Alopecia: Report of a Chinese Family Mapped to Chromosome 2p25.1–2p23.2
A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.
research Generalized Woolly Hair: Case Report and Literature Review
Woolly hair is a rare genetic condition with no effective treatments.
research Odd-Looking Hair and Progressive Alopecia in Mother and Son
Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
research Frontal Fibrosing Alopecia: Literature Review of General, Pathophysiological, Diagnostic, and Treatment Aspects
Early diagnosis of alopecia frontal fibrosante is crucial, but treatment remains controversial and varies.
research The Role of Rs6152 Allele and Non-Genetic Factors in Androgenetic Alopecia: A Pilot Study in the Indonesian Local Population
The rs6152 allele is not a good marker for baldness in the Indonesian population, but family history, age, gender, high blood pressure, and body weight are linked to the risk.
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.
research Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
research Coexistence of Woolly Hair and Monilethrix: A Case Study
Two sisters have rare hair disorders causing short, fragile, kinky hair.
research Hair Shaft Defect in a Teenage Girl: Trichoscopy Saves the Day
Trichoscopy helped diagnose a teenage girl's hair loss as monilethrix.
research Two Females With Hair Loss
A mother and daughter have a rare genetic hair loss disorder with no effective treatment.
research Gene Detection in a Family With Monilethrix and Observation of the Treatment Effect With 5% Topical Minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research Monilethrix
Monilethrix causes short, fragile hair with no specific treatment available.
research Biochemical Features of Primary Cells from a Pediatric Patient with a Gain-of-Function ODC1 Genetic Mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research Birt–Hogg–Dubé Syndrome: A Histopathological Pitfall With Similarities to Tuberous Sclerosis
Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
research Superficial Epidermolytic Ichthyosis—Hypertrichosis as a Clue to Diagnosis
Hypertrichosis (excessive hair growth) can help diagnose superficial epidermolytic ichthyosis.
research Gene Detection in a Family With Monilethrix and Treatment With 5% Topical Minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research TRPS1 Mutation Associated with Trichorhinophalangeal Syndrome Type 1 with 15 Supernumerary Teeth, Hypoplastic Mandibular Condyles with Slender Condylar Necks and Unique Hair Morphology
A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
research Dermatopathia Pigmentosa Reticularis with Salzmann’s Nodular Degeneration of Cornea: A Rare Association
An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
research P-19 A Case of Birt-Hogg-Dubé Syndrome Presented With Parathyroid Carcinoma
This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
research Delayed-Onset Pachyonychia Congenita Caused by a Novel Mutation in the V2 Domain of Keratin 6B
A new mutation in the K6b gene caused a girl's late-appearing nail condition.