research Rare Coexistence of Monilethrix and Trichorrhexis Nodosa in a Pediatric Patient: A Case Report
A 6-year-old girl had both monilethrix and trichorrhexis nodosa, causing brittle hair, with minimal improvement from treatment.
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150-180 / 1000+ resultsresearch Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research Environmental Pollution, Oxidative Stress and Thioretinaco Ozonide: Effects of Glyphosate, Fluoride and Electromagnetic Fields on Mitochondrial Dysfunction in Carcinogenesis, Atherogenesis and Aging.
Environmental pollutants like glyphosate, fluoride, and electromagnetic fields can cause health problems by damaging mitochondria and affecting metabolism.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Nevus comedonicus syndrome: a case associated with multiple basal cell carcinomas and a rudimentary toe
A man with nevus comedonicus syndrome had multiple skin issues, including basal cell carcinomas, which improved with treatment.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research Hair Anomalies in a 6-Year-Old Girl
A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children
Hair microscopy is a simple and cost-effective method to help diagnose systemic diseases in children.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research [Translated article] Keys to the Diagnosis of Hair Shaft Disorders: Part II
Hair shaft disorders, often due to genetics or environment, lack specific treatments but can be managed with gentle hair care and may improve with age or topical treatments.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Adverse effects of 5α-reductase inhibitors: What do we know, don’t know, and need to know?
5α-reductase inhibitors may cause persistent sexual dysfunction and depression, needing more research on long-term effects.
research Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
research Idiopathic hypoparathyroidism with extensive intracranial calcification in children
An 11-year-old boy in Saudi Arabia has a rare case of hypoparathyroidism with severe brain calcifications but normal development and no known cause.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research Claves diagnósticas en displasias pilosas II
Hair shaft disorders are diagnosed through examination and history, with general care and some treatments offering improvement.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome
Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
research Interventions for central serous chorioretinopathy: a network meta-analysis
No single treatment is clearly effective for central serous chorioretinopathy.
research Treatment of pediatric alopecia areata: A systematic review
Topical corticosteroids are the best initial treatment for children's alopecia areata.
research Application of Acyzol in the Context of Zinc Deficiency and Perspectives
Acyzol could help treat conditions caused by zinc deficiency.
research A review of genotrichoses and hair pathology associated with inherited skin diseases
Next-generation sequencing greatly improves understanding and treatment of genetic hair disorders.
research Making the head: Caspases in life and death
Caspases are enzymes important for both cell death and various non-lethal cell functions, affecting head development and hair growth, with different caspases playing specific roles.
research Coloration in Equine: Overview of Candidate Genes Associated with Coat Color Phenotypes
Genes like MC1R, TYR, MITF, ASIP, and KIT determine horse and donkey coat colors and affect breeding and health.
research The Multiple Consequences of Obesity
Obesity leads to physical, metabolic, reproductive issues, higher healthcare costs, and mental health problems.
research Proteomic Analysis of Two Stem Cell Secretomes Used in Combination in a Topical Skin Care Product That Has Demonstrated Efficacy in a Double-Blinded, Vehicle-Controlled Clinical Trial
The combined stem cell secretome in the skin care product effectively reduces inflammation and promotes tissue regeneration.