research New Treatment Options for Alopecia Areata
Baricitinib is a new, effective treatment for advanced alopecia areata but is costly and has risks.
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research Macrophages maintain mammary stem cell activity and mammary homeostasis via TNF-α-Cdk1/Cyclin B1 axis
Macrophages help maintain mammary stem cells and balance through specific signaling.
research Influence of donor sources and culture media on the histo-morphological quality of human artificial skin models
EpiLife® media and younger donor age improve artificial skin model quality.
research Treatment-resistant Schizophrenia and Global Cortical Atrophy in a Patient with Turner Syndrome
A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.
research Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man
An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
research Short anagen syndrome in an African American woman
A 38-year-old African American woman has a rare condition that prevents her from growing long hair.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Loose Anagen Hair Syndrome in Black‐Haired Indian Children
Loose Anagen Hair Syndrome is found in black-haired Indian children and is often missed, especially in boys.
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 Fractal Pattern in the Premature Graying of Hair: A Case Report
A 32-year-old man with early graying hair shows a unique pattern, suggesting more research is needed on why hair grays early.
research The Case Files
The man's skin condition improved with sun protection and topical steroids, but UV exposure still caused flare-ups.
research Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
research First symposium on natural gene therapy of the skin
Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.
research [Wooly hair syndrome. Clinical and microscopic study].
Woolly hair syndrome is a genetic condition causing frizzy, fragile hair.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is 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 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 NovelPAX9mutation associated with syndromic tooth agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
research Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene
Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
research Monilethrix: Beaded hair and hypotrichosis in a child
A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
research Isolated patchy heterochromia with pili annulati features on light and electron microscopy
Isolated patchy heterochromia with pili annulati can occur without other health issues.
research Clinical Case Notes. Tamoxifen optic neuropathy
A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
research A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
research High-sulfur protein deficient human hair: clinical aspects and biochemical study of two unreported cases of a variant type of trichothiodystrophy
Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
research Familial aggregation of phenotypic expression of premature hair hypopigmentation in the craniofacial region
Premature hair graying in the face may be influenced by genetics and environment.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.