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.
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960-990 / 1000+ resultsresearch An Unusual Case of Mycosis Fungoides Presenting with Multiple Atypical Morphologies in a Photoexacerbated Distribution
Mycosis fungoides can have unusual symptoms and may be misdiagnosed, but specific cell markers might suggest a lower risk of worsening.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research [Successful treatment of "steroid-immunosuppressant resistant" polymyositis with immunoadsorption].
Immunoadsorption successfully treated a man's resistant polymyositis.
research The mechanism of m6A methylation analysis of the transcriptome to regulate the diameter of Alpine Merino wool fiber
m6A methylation affects the thickness of Alpine Merino wool fibers.
research Sulfur Containing Tyrosine Analogs Can Cause Selective Melanocytotoxicity Involving Tyrosinase-Mediated Apoptosis
research Analysis of Skin, Hair and Nail Diseases in the Adults with Beta Thalassemia Major
Adults with Beta Thalassemia Major are more likely to have skin, hair, and nail disorders.
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research Side effects of vitamins, amino acids, nutrition, and complementary and alternative medicine
Some vitamins, amino acids, and alternative medicines can cause serious side effects, including bone, muscle, and skin issues, and healthcare professionals should be aware of these risks.
research Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
research High‐dose pulsed corticosteroid therapy combined with methotrexate for severe alopecia areata of childhood
High-dose corticosteroids and methotrexate had a modest effect on severe childhood alopecia, but side effects and relapse were concerns.
research Polyglandular Syndrome Type 1 Complicated with Dilated Cardiomyopathy: A Case Report
A 27-year-old with APS-1 showed improvement in symptoms after treatment.
research Skin manifestations of Bardet–Biedl syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research Maculopapular rash upon antibiotic therapy in a patient with rheumatoid arthritis
Methotrexate caused a rare skin rash in a rheumatoid arthritis patient, which resolved after stopping the drug.
research A case of secondary diabetes mellitus associated with chronic arsenic toxicity
Chronic arsenic toxicity can cause diabetes and may not improve even with treatment.
research ALKBH5-mediated m6A demethylation fuels cutaneous wound re-epithelialization by enhancing PELI2 mRNA stability
ALKBH5 helps wounds heal faster by stabilizing PELI2 mRNA.
research Targeted Skin Overexpression of the Mineralocorticoid Receptor in Mice Causes Epidermal Atrophy, Premature Skin Barrier Formation, Eye Abnormalities, and Alopecia
Overexpressing the mineralocorticoid receptor in mouse skin causes skin thinning, early skin barrier development, eye issues, and hair loss.
research Polarized microscopy in genetic hair disorders: case series
Polarized microscopy helps identify hair irregularities in genetic disorders.
research A case of recalcitrant pediatric Vogt-Koyanagi-Harada disease successfully controlled with adalimumab
Adalimumab helped control a child's severe eye disease when other treatments failed.
research Nevus psiloliparus: Newly described histopathological features from transverse sections
Nevus psiloliparus lacks mature hair follicles but keeps other skin structures intact.
research Prenatal serological diagnosis of intrauterine cytomegalovirus infection.
Blood tests confirmed a baby in the womb had a CMV infection.
research Effect of Primary Biotin Deficiency on the Skin of Germ-Free and Conventional Mice Fed a Purified Biotin-Deficient Diet without Supplementation with Egg White.
Biotin deficiency causes severe hair loss and weight reduction in germ-free mice.
research Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research MEX3A regulates Lgr5 + stem cell maintenance in the developing intestinal epithelium
MEX3A is crucial for maintaining intestinal stem cells in mice.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research Enteropathica Acrodermatitis Complicated by Necrotising Fasciitis in an Infant Admitted to the Paediatric Emergency Department of the Gabriel Touré University Hospital
A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.
research Identification of N6-Methyladenosine-Related Factors and the Prediction of the Regulatory Mechanism of Hair Follicle Development in Rex and Hycole Rabbits
N6-methyladenosine affects hair follicle development differently in Rex and Hycole rabbits.
research An Update of Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
research Novel Chemically Modified Curcumin (CMC) Analogs Exhibit Anti-Melanogenic Activity in Primary Human Melanocytes
CMC2.24 and CMC2.23 reduce melanin safely and effectively.