research Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
Researchers found a new mutation causing total hair loss from birth.
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research Characterization of novel TMEM173 mutation with additive IFIH1 risk allele
A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
research PROFILE OF ALOPECIA AREATA: A QUESTIONNAIRE ANALYSIS OF PATIENT AND FAMILY
Alopecia areata often starts before age 20, is more common in women, and may have a genetic link with other autoimmune diseases.
research 545 Skin Organoids derived from NCSTN mutated patient-induced pluripotent stem cells recapitulate Hidradenitis Suppurativa pathogenic hallmarks
Skin organoids with NCSTN mutation show changes in hair follicle development and higher inflammation, key features of Hidradenitis Suppurativa.
research Is Prenatal Sex Hormone Balance a Risk Factor for the Development of Hidradenitis Suppurativa
Lower 2D:4D finger ratios in HS patients suggest prenatal hormone influence on the disease.
research Genetically predicted levels of circulating cytokines and the risk of six immune skin diseases: a two-sample Mendelian randomization study
Certain cytokines may cause or be affected by immune skin diseases, suggesting possible new treatments.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research Autoimmune Disease Induction in a Healthy Human Organ: A Humanized Mouse Model of Alopecia Areata
Alopecia areata can be triggered by specific immune cells without genetic or environmental factors.
research Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome
Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.
research Research Snippets
New hair regrowth model introduced, imiquimod kills skin cancer cells, T-cadherin loss makes skin cancer more invasive, no strong link between PTCH1 gene and skin cancer after transplant, and male teens more likely to have hereditary hair loss.
research Concomitant Vitiligo and Psoriasis in a Patient Treated with Interferon Alfa‐2a for Chronic Hepatitis B Infection
A girl developed vitiligo and psoriasis after hepatitis B treatment, and stopping the treatment didn't help.
research Scarring Alopecia With Coexisting Lichen Planus in a Child: A Rare Phenomenon
A child had a rare case of scarring hair loss with skin disease, which is hard to treat and stressful.
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 At the Root: Cutaneous Langerhans Cell Histiocytosis
A woman's long-term scalp issues were diagnosed as a rare skin disorder called cutaneous Langerhans cell histiocytosis.
research Hepatitis C ‐related mixed type vitiligo in a patient with I vemark syndrome
A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.
research The association between Interleukin (IL)-4 gene intron 3 VNTR polymorphism and alopecia areata (AA) in Turkish population
IL-4 gene variation may increase the risk of alopecia areata in Turkish people.
research Zinc deficiency or genetic mutations?—A case report of hair heterochromia in the context of MC1R genetic mutations
A boy's hair turned red because of genetic mutations, not lack of zinc.
research Can the Hair Follicle Become a Model for Studying Selected Aspects of Human Ocular Immune Privilege?
Hair follicles could help develop eye treatments by studying immune responses.
research Hox demarcates regional regeneration of adult hair follicle stem cells
Hox genes control hair follicle stem cell regeneration in different body regions.
research Childhood Systemic Lupus Erythematosus: Clinical and Immunologic Patterns in Mexican Children
Gender-specific analysis could improve treatment for childhood systemic lupus erythematosus.
research Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a U2HR mutation
A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
research Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases
H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
research Case Study: Hereditary Cancer Genetic Testing in Unaffected Patients May Allow for Early Intervention and Aggressive Management
Genetic testing for cancer risk can lead to early and life-saving treatments in people without symptoms.
research A Case Report of Autoimmune Hemolytic Anemia with Deep Vein Thrombosis in a 16-year-old Girl - Is It Systemic Lupus Erythematosus?
A 16-year-old girl with autoimmune hemolytic anemia and deep vein thrombosis improved with treatment, possibly indicating systemic lupus erythematosus.
research 555 Dermal single-cell atlas: a novel tool to explore fibroblast heterogeneity
A new tool helps study hair follicle cells to develop better treatments for hair disorders.
research Hair development and Langerhans cell migration during human embryogenesis
Langerhans cells and melanocytes migrate to the skin and hair follicles during early human development.
research Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy X‐linked syndrome
Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
research Hypotrichosis congenita of Marie Unna
A 54-year-old woman experienced progressive hair loss starting in adolescence, leading to sparse scalp hair and almost no eyebrows or eyelashes.
research Interleukins gene polymorphism in alopecia areata patients: a systematic review
Certain gene variations are linked to alopecia areata.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.