research Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities
A new syndrome may link skin, growth, mental, and hair issues.
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540-570 / 1000+ resultsresearch Elevation of transaminases after MMP® session with methotrexate for alopecia areata treatment – how much do we know about the risks of systemic absorption of the technique?
research Mitochondrial dysfunction in an animal model of diabetic neuropathy is associated with a reduction of neurosteroid synthesis.
Diabetic neuropathy in mice is linked to poor mitochondria function and lower brain hormone production.
research Correction of ornithine transcarbamylase (OTC) deficiency in spf‐ash mice by introduction of rat OTC gene
Introducing the rat OTC gene partially corrected OTC deficiency in mice.
research Atypical folliculitis caused by Malassezia spp. in immunosuppressed patients
Some immunosuppressed patients can get unusual skin infections from Malassezia, which can be treated with antifungal medication.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research Alterations in Methionine Cycle and Wnt/MAPK Signaling Associated with HMBi-Induced Cashmere Growth in Goats
HMBi supplementation boosts cashmere growth by affecting specific metabolic and signaling pathways in goats.
research Neurochemical and Immunocytochemical Studies of Catecholamine System in the Brindled Mouse
Brindled mice show abnormal catecholamine neuron development due to copper deficiency.
research Metabolomic and lipidomic atlas of human hair across its length
Human hair contains many different molecules that change along its length, influenced by personal care products.
research Invited Speaker Abstracts
Technological advancements and standardization are crucial for improving diagnostic accuracy and laboratory efficiency.
research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research BH09 Mycophenolate mofetil in the management of lichen planus pigmentosus in a woman with frontal fibrosing alopecia
Mycophenolate mofetil effectively improved skin pigmentation and itching in a woman with lichen planus pigmentosus and frontal fibrosing alopecia.
research Lentiginosis within plaques of linear atrophoderma of Moulin: a twin-spotting phenomenon?
The document suggests a rare skin condition might be caused by a genetic phenomenon.
research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.
research Hereditary vitamin D rickets: a case series in a family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
research Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
research Nail Hyperpigmentation Following Valproic Acid Use: A Rare Case Report
Valproic acid can rarely cause reversible nail discoloration.
research Cutaneous manifestations of metabolic diseases: uncommon presentations
Some skin problems can be signs of diabetes or other metabolic diseases and recognizing them can help diagnose and treat these diseases early.
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research Dermal Mucinosis in the Eosinophilia-Myalgia Syndrome
A woman with EMS showed unusual skin mucinosis without the typical hard skin syndrome, suggesting EMS can cause skin mucinosis.
research Scleromyxedema with neurologic involvement: Therapy with intravenous immunoglobulin
Umbilical cord blood transplantation improved the boy's symptoms despite complications.
research Type II Vitamin D Dependent Rickets: A Case Report
Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.
research Myristoleic Acid Promotes Anagen Signaling by Autophagy through Activating Wnt/β-Catenin and ERK Pathways in Dermal Papilla Cells
Myristoleic acid helps hair growth by boosting cell growth and recycling processes in hair follicle cells.
research Pure linoleate deficiency in the rat: influence on growth, accumulation of n-6 polyunsaturates, and [1-14C]linoleate oxidation
Linoleate deficiency in rats reduces growth and n-6 polyunsaturate accumulation, causing mild symptoms.
research Hair Manganese as a Marker of Cardiometabolic Status Rather than Coronary Artery Disease Severity—An Exploratory Pilot Study
Hair manganese may relate to cardiometabolic health, not coronary artery disease severity.
research Methotrexate for maintenance of remission in ulcerative colitis
Methotrexate is not proven to maintain remission in ulcerative colitis.
research Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
Reduced matriptase activity causes skin and hair issues in both humans and mice.