research 증례 : 모발의 황 농도 감소를 보인 모발유황이영양증
A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
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research Effects of PNU157706, a Dual 5α-Reductase Inhibitor, on Rat Epididymal Sperm Maturation and Fertility1
PNU157706 reduced rat sperm movement and fertility without affecting offspring health.
research Clinical Case Notes. Intraorbital ophthalmic artery aneurysms
Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
research Oxidative DNA Damage Accelerates Skin Inflammation in Pristane-Induced Lupus Model
Loss of OGG1 increases skin inflammation and auto-antibodies in lupus.
research Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
research Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research Pityriasis rubra pilaris: a rare inflammatory dermatosis
An 18-year-old woman was diagnosed with a rare skin condition called Pityriasis rubra pilaris.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research THE EFFECT OF REPLENISHMENT OF IRON STORES AFTER PHLEBOTOMY THERAPY IN PORPHYRIA CUTANEA TARDA
Replenishing iron after phlebotomy can cause relapse in porphyria cutanea tarda.
research Androgen excess: a hallmark of polycystic ovary syndrome
Excess androgens may cause PCOS, not just be a symptom.
research Hereditary 1,25‐Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor
A specific gene mutation causes vitamin D-resistant rickets and hair loss.
research Redox-directed interventions targeting skin photodamage
Some treatments can improve skin's defense against damage, but overuse may cause other skin problems.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research 5α-Reductase Inhibitory Components as Antiandrogens From Herbal Medicine
A plant extract was found to effectively block an enzyme related to male hormone-related diseases.
research Expanding the Phenotypic Spectrum of Olmsted Syndrome
TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
research Hormonal and Genetic Controls of Hirsutism: Link Between hyperprolactinemia, Polycystic ovary syndrome and Hirsutism
Hormones, genes, and oxidative stress interact to cause hirsutism and PCOS.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research S2608 A Rare Case of Iron Deficiency Anemia: Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.
research Administration of dutasteride in animal models of retinitis pigmentosa
Dutasteride potentially improves cell survival and reduces retinal damage in retinitis pigmentosa.
research Ornithine decarboxylase is a target for chemoprevention of basal and squamous cell carcinomas in Ptch1+/– mice
Inhibiting ornithine decarboxylase may help prevent certain skin cancers.
research SÍNDROME PÓS-FINASTERIDA E O IMPACTO DOS INIBIDORES DA 5-ALFA REDUTASE NOS EIXOS NEUROENDÓCRINO E METABÓLICO
Post-Finasteride Syndrome causes lasting sexual, mood, and metabolic issues, needing personalized treatment and better informed consent.
research Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
PAON shows skin patterns due to genetic mosaicism.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Oxidative Stress in Alopecia Areata and its Association with Disease Severity, Treatment and Autoimmunity
Corticosteroids may not effectively control oxidative stress in alopecia areata, possibly leading to relapses.
research Oxidative Stress–Associated Senescence in Dermal Papilla Cells of Men with Androgenetic Alopecia
Oxidative stress affects hair loss in men with androgenetic alopecia.
research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.