research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
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960-990 / 1000+ resultsresearch Cutaneous manifestations in patients attending the hematology clinic at King Fahd Hospital of the University during a 13 week-period
Dermatologists should be involved in the care of hematology patients due to common skin issues.
research S3301 Abnormal Liver Enzymes in Thymoma-Associated Multiorgan Autoimmunity
Thymoma-associated multiorgan autoimmunity can cause liver damage and affects multiple organs, with limited treatment options and a generally poor prognosis.
research Concurrent autoimmune and endocrine dysregulation in polycystic ovary syndrome
Autoimmune markers may help diagnose and manage PCOS.
research Effect of 3-Beta Hydroxysteroid Dehydrogenase on Serum Testosterone Level in Obese Women With Polycystic Ovary Syndrome
3βHSD2 is not useful for diagnosing PCOS.
research Characterization of recombinant human liver dehydroepiandrosterone sulfotransferase with minoxidil as the substrate
Human liver enzyme DHEA ST helps process minoxidil.
research Inborn Errors of Biotin Metabolism
Two enzyme defects in biotin metabolism cause severe skin, hair, and metabolic issues.
research Polycystic Ovary Syndrome and Oxidative Stress—From Bench to Bedside
Oxidative stress worsens PCOS by damaging cells and disrupting metabolism, suggesting antioxidant treatments might help.
research Serum holotranscobalamine, vitamin B12, folic acid and homocysteine levels in alopecia areata patients
Alopecia areata is not linked to vitamin B12 deficiency.
research CENTRAL STATES DERMATOLOGICAL SOCIETY
A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
research A New Case of Isolated Trichothiodystrophy
A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
research Acrodermatitis enteropathica – diagnostic challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
research A clincodermoscopic evaluation of chronic diffuse hair loss among females in a Tertiary Care Center
The conclusion is that examining the scalp closely and checking for iron levels and thyroid issues is key to understanding chronic hair loss in women.
research Koilonychia in a Patient with Alopecia Areata.
Koilonychia in alopecia areata can improve with oral corticosteroids.
research Detection of five substitution TPO mutations in Polycystic Ovary Syndrome (PCOS) and thyroid hormones disturbance patients
Five different TPO gene mutations were found in PCOS patients with thyroid hormone issues.
research Hydroxylation of dehydroepiandrosterone in human scalp hair folhcles
The enzyme system in hair follicles is similar to the liver's and is affected by certain inhibitors.
research BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations
The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.
research Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
research Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
research Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
New LSS gene variants help understand congenital hypotrichosis 14 better.
research A Clinical Study of 50 Cases of Female Pattern Hair Loss
Genetics, low estrogen, and low iron levels contribute to female hair loss, with specific scalp signs indicating severity.
research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
research A rare case of an androgen-producing stromal luteoma of the ovary in a postmenopausal woman, diagnosed by means of selective venous blood sampling
Doctors used a special blood sampling technique to diagnose a woman's rare ovarian tumor that was producing male hormones.
research Prospective cohort evaluation of hirsutism and anthropometrics in a south east asian PCOS population
Vietnamese women with PCOS tend to be younger, have larger waists, higher AMH levels, and more body hair than those without PCOS.
research Ovarian intratumoral 21-hydroxylase deficiency in a postmenopausal hirsute woman
A postmenopausal woman's masculine symptoms improved after surgery for a hormone-producing ovarian tumor.
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research Hirsutism
Hirsutism is abnormal male-pattern hair growth in females due to excess androgens.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
research Woodhouse-Sakati syndrome (WSS)
The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
research Congenital Zinc Deficiency from Mutations of theSLC39A4Gene as the Genetic Background of Acrodermatitis Enteropathica
A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.