research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
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780-810 / 1000+ results research When Beauty Turns Toxic: Acute Contact Dermatitis and Kidney Injury Following Hair Straightening
Hair straightening products with glyoxylic acid can cause skin irritation and kidney damage.
research Exploring the Gut Microbiome and Metabolome in Individuals with Alopecia Areata Disease
Alopecia Areata is linked to specific gut bacteria and metabolites, indicating a complex gut microbiome.
research Detection of Type IIHair Keratin Gene in a Family with Monilethrix
A unique gene mutation was found in a family with monilethrix.
research Re: The association of urolithiasis and androgenetic alopecia. Resorlu M, Sancak EB, Uysal F, Arslan M, Diri A, Adam G, Akbas A, Sariyildirim A, Gulpinar MT, Resorlu B. Ren Fail. 2015 Oct 13:1–5
Kidney stones and hair loss are significantly related in people under 60 years old.
research Synthesis and biological evaluation of amino-pyridines as androgen receptor antagonists for stimulating hair growth and reducing sebum production
A compound made by Pfizer can potentially stimulate hair growth and reduce oil production, making it a good candidate for topical use.
research Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function
A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
research Familial Uncombable Hair Syndrome: Ultrastructural Hair Study and Response to Biotin
Biotin improved hair appearance in uncombable hair syndrome but didn't change hair structure.
research Author response: Structural basis of malodour precursor transport in the human axilla
The transporter protein SH1446 in Staphylococcus hominis is key to underarm odor production.
research Transport of Niosomal Aminexil through Whole Abdominal Skin of Rats
New niosomal formulation effectively delivers aminexil through rat skin.
research CONGENITAL ATRICHIA.*
Congenital atrichia is a rare condition where children are born without hair, and treatment is often ineffective.
research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
research Gastrointestinal polyposis with protein-losing enteropathy, abnormal skin pigmentation and loss of hair and nails (Cronkhite-Canada syndrome)
Cronkhite-Canada Syndrome often leads to death within 6-18 months.
research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
A specific gene mutation causes woolly hair and hair loss.
research Macrocytosis and pseudoalbinism: Manifestations of selenium deficiency
Selenium deficiency can cause skin and hair color loss, muscle weakness, and blood cell changes, but these improve with selenium supplements.
research Finasteride Alleviates High Fat Associated Protein-Overload Nephropathy by Inhibiting Trimethylamine N-Oxide Synthesis and Regulating Gut Microbiota
Finasteride may help treat kidney disease caused by a high-fat diet by reducing harmful toxins and improving gut bacteria.
research WRIST PAIN IN A GYMNAST WITH PRIMARY AMENORRHEA
The gymnast's wrist pain and delayed menstruation are linked to intense exercise, requiring reduced activity and monitoring.
research Polyglandular autoimmune syndrome type 4 with GAD antibody and dystonia
Dystonia may be part of PAS-4 and linked to immune issues.
research Alopecia areata incognito: A rare cause of hair loss in children
Alopecia areata incognito in children can be effectively treated with triamcinolone acetonide and supplements, leading to full hair regrowth.
research Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature
A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
research A functional study of a case of glucagonoma exhibiting typical glucagonoma syndrome
A pancreatic tumor caused high glucagon levels and symptoms, but treatment reduced glucagon and shrank liver tumors.
research Monilethrix with Acitretin
Acitretin improved monilethrix symptoms temporarily, but they returned after stopping treatment.
research Parathyroid adenoma with coeliac disease: primary or quaternary hyperparathyroidism?
A gluten-free diet and surgery fixed the girl's calcium levels and started puberty.
research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
research The biochemical and phenotypic characterization of females homozygous for 5 alpha-reductase-2 deficiency.
Females with 5 alpha-reductase-2 deficiency have less body hair, no acne, normal fertility, and delayed menarche.
research 5-Alpha-reductase deficiency in a Saudi "girl"
A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
research Acute pancreatitis: An unusual presentation of systemic lupus erythematosus
Early diagnosis and aggressive treatment are crucial for managing SLE-related pancreatitis in children.
research Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature
Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
research Relationships between hair-follicle afferent terminations and glutamic acid decar☐ylase-containing boutons in the cat's spinal cord
Hair-follicle nerves in cats' spinal cords can be inhibited by GABA-related connections.