research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
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270-300 / 1000+ resultsresearch Bilateral Xen is Used as Minimally Invasive Glaucoma Surgery for Glaucoma in GAPO Syndrome: Case Report
Minimally invasive glaucoma surgery can effectively manage glaucoma in GAPO syndrome when other treatments fail.
research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Consider NF1 in newborns with rare congenital anomalies.
research Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.
research Sparse Brittle Hair and Bilateral Temporal Alopecia in a Child
A 2-year-old boy has a rare hair disorder causing brittle hair and hair loss, which may improve with age.
research Bilateral conjunctival lesions in Melkersson-Rosenthal syndrome
Intralesional cidofovir may be a viable treatment for conjunctival lesions in Melkersson-Rosenthal syndrome without systemic toxicity.
research BH15 Nonsyndromic hypotrichosis: a rare case of congenital hypotrichosis 15 and management with minoxidil
Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Emerging Topical and Systemic JAK Inhibitors in Dermatology
JAK inhibitors show promise for treating skin disorders like alopecia, eczema, and psoriasis.
research Polycystic Ovary Syndrome
PCOS is a common hormonal disorder in women, marked by symptoms like hair growth and menstrual issues, and requires personalized treatment.
research Thyrotropin-Releasing Hormone (TRH) Promotes Wound Re-Epithelialisation in Frog and Human Skin
Thyrotropin-Releasing Hormone helps heal wounds in frog and human skin.
research Symptoms Compatible With Long Coronavirus Disease (COVID) in Healthcare Workers With and Without Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Infection—Results of a Prospective Multicenter Cohort
Healthcare workers with COVID-19 reported more long-term symptoms, and physical activity may help reduce some of these symptoms.
research IL-36γ drives skin toxicity induced by EGFR/MEK inhibition and commensal Cutibacterium acnes
A protein called IL-36γ causes skin side effects from certain cancer treatments when combined with a common skin bacteria.
research Relationship between Amino Acid Intake and Accretion in a Marsupial, Macropus Eugenii
Amino acid levels in milk increase with protein and align with key growth stages in Macropus eugenii.
research Symptoms compatible with long-COVID in healthcare workers with and without SARS-CoV-2 infection – results of a prospective multicenter cohort
Healthcare workers with a positive COVID-19 test were more likely to report long-COVID symptoms.
research The Janus kinase 1 inhibitor abrocitinib for the treatment of oral lichen planus
research Thymic Peptides Differentially Modulate Human Hair Follicle Growth
Some thymic peptides can increase human hair growth, while others may inhibit it.
research Spironolactone May Reduce the Risk of Incident Rosacea
Spironolactone might lower the chance of getting rosacea.
research The Novel Excipient, Dodecyl-2-N, N-dimethylaminopropionate Hydrochloride (DDAIP-HCl) Improves the Flux of Minoxidil in Human Skin
DDAIP-HCl significantly increases minoxidil absorption into the skin.
research HuR ablation destabilizes Foxp3 mRNA and impairs regulatory T cell function, contributing to an autoimmune phenotype
HuR is essential for Treg function and preventing autoimmunity.
research THERAPEUTIC CHALLENGES IN POLYAUTOIMMUNITY: ANIFROLUMAB FOR LUPUS ERYTHEMATODES IN OVERLAPPING AUTOIMMUNE SYNDROMES
Anifrolumab may help improve symptoms in patients with overlapping autoimmune diseases.
research Non‐biologic immunosuppressive drugs for inflammatory and autoimmune skin diseases
Non-biologic immunosuppressive drugs are crucial for treating autoimmune and chronic inflammatory skin diseases.
research Vitamin-D3 modulates human hair follicle epithelial progenitor cells in situ and in vitro
research Adult Onset Isolated Hypogonadotropic Hypogonadism- a Cause of Secondary Amenorrhea
A 23-year-old woman's missed periods were caused by a rare genetic disorder treated with hormone patches.
research Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation]
The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
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 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.