research Dermatopathology and molecular genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
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840-870 / 1000+ results research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
research Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
research 1465 Optimization/characterization of a Focal Dermal Hypoplasia mouse model to test potential treatments
Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
research Ichthyosis and Trichothiodystrophy: the Tay and PIBI(D)S Syndromes
Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
research Production of anemia in a pig which responded to purified liver extract.
Liver extract treatment improved anemia and hair growth in a pig.
research Selective complete Clq deficiency associated with systemic lupus erythematosus.
Clq deficiency is linked to systemic lupus erythematosus symptoms.
research An observational analysis of erythromelanosis follicularis faciei et colli
EFFC might be common but underreported.
research Hair and Nail Manifestations of Systemic Disease
Early baldness in men may indicate risks for obesity, metabolic syndrome, insulin resistance, and heart disease, similar to women with PCOS. Alopecia areata is often linked with autoimmune diseases and mental health issues. Certain hair disorders are due to genetic issues, and chemotherapy can cause hair loss through specific biological pathways. Iron deficiency's link to hair loss is still disputed.
research A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22)
Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
research Human hair production by scalp samples grafted onto nude mice. Biochemical data on normal human hair and the genetic defect trichothiodystrophy
Grafted human scalp samples on mice can produce human hair, useful for studying hair genetics.
research Multicentric Reticulohistiocytosis Induced Alopecia: A Clinical Case Report
Alopecia can be caused by multicentric reticulohistiocytosis.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research Mice Engrafted with Human Fetal Thymic Tissue and Hematopoietic Stem Cells Develop Pathology Resembling Chronic Graft-versus-Host Disease
Mice with human fetal thymic tissue and stem cells developed symptoms similar to chronic graft-versus-host disease.
research Insertional mutation of the hairless locus on mouse Chromosome 14
A gene mutation in mice causes permanent hair loss and skin issues.
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 A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research Christmas article: Case of uncombable hair syndrome discovered after publication of article in Ugeskrift for Læger
Digital access to medical info can help identify rare conditions.
research Metal-Chelation-Assisted Deposition of Polydopamine on Human Hair: A Ready-to-Use Eumelanin-Based Hair Dyeing Methodology
Polydopamine is a safe, effective, and permanent hair dye that turns gray hair black in one hour.
research Prevalence of functional disorders of androgen excess in unselected premenopausal women: a study in blood donors
Many young women who donate blood have hormonal disorders like excess male hormones and PCOS.
research An Erythematous Plaque With Overlying Alopecia on the Scalp of a Child —Diagnosis
The child was diagnosed with cutaneous leishmaniasis.
research 169 Red Sky in Morning: A Case of Concurrent Hematospermia and Anorgasmia
Treating hematospermia can improve sexual function and reduce anxiety.
research Autoimmune Liver Disease In Children
Autoimmune hepatitis in children often affects girls and can be treated successfully with medication.
research Koilonychia in a Patient with Alopecia Areata.
Koilonychia in alopecia areata can improve with oral corticosteroids.
research Nailfold capillaroscopy alterations in androgenetic alopecia: A cross-sectional study
Men with androgenetic alopecia, or hair loss, often have abnormal blood flow in their small blood vessels, which might be linked to inflammation and stress.
research New-Onset Gastrointestinal Polyposis
A 60-year-old man with Cronkhite-Canada syndrome improved with treatment, but the condition has a high mortality rate and a risk of colorectal cancer.
research Punctate Follicular Porokeratosis
Punctate follicular porokeratosis is a skin condition with specific features seen in hair follicles.
research Lichen Planus Pigmentosus as a Cutaneous Extrahepatic Manifestation of Chronic Hepatitis C Virus Infection: A Case Report
Lichen planus pigmentosus may indicate undetected hepatitis C infection.
research Vitamin C Deficiency-Induced Pulmonary Arterial Hypertension
Vitamin C supplementation can resolve pulmonary arterial hypertension caused by vitamin C deficiency.
research Induction of hyperandrogenism and insulin resistance differentially modulates ferroptosis in uterine and placental tissues of pregnant rats
HAIR may cause fetal loss by triggering different cell death processes in the uterus and placenta.