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.
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60-90 / 151 resultsresearch An Update of Hair Shaft Disorders
Advances in genetics may lead to targeted treatments for hair disorders.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research Reversible Alopecia in Vogt-Koyanagi-Harada Disease and Sympathetic Ophthalmia
Alopecia can be reversed with timely steroid treatment in VKH and SO diseases.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Woodhouse-Sakati Syndrome: A Case Study of Three Saudi Sisters
The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research Effect of Low-Level Laser Therapy on Hair Cell Regeneration Following Gentamicin-Induced Ototoxicity in Postnatal Organotypic Culture of Rat Cochlea
Low level laser therapy may help regenerate hair cells in the ear after damage from gentamicin.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research The Epidemiology of Hospital-Treated Alopecia Areata in Denmark, 1995–2016
In Denmark from 1995 to 2016, hospital-treated alopecia areata cases increased, mostly affecting women and those over 50.
research Hair and Nail Disorders of Childhood
The document concludes that various childhood hair and nail disorders exist, some may improve on their own, and advances in genetics and immunology could enhance treatment and counseling.
research Sebaceous Carcinoma Arising at a Chronic Candidiasis Skin Lesion of a Patient with Keratitis-Ichthyosis-Deafness (KID) Syndrome
A man with KID syndrome developed a rare cancer in a long-term skin infection.
research Rac-Dependent Signaling from Keratinocytes Promotes Differentiation of Intradermal White Adipocytes
Signals from skin cells controlled by Rac proteins help turn certain precursor cells into white fat cells.
research Integrated Safety Analysis of Ritlecitinib, an Oral JAK3/TEC Family Kinase Inhibitor, for the Treatment of Alopecia Areata from the ALLEGRO Clinical Trial Program
Ritlecitinib is safe and well-tolerated for treating alopecia areata in patients aged 12 and older.
research Atypical Progeroid Syndrome Due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research Adult Kawasaki Disease: Report of Two Cases and Literature Review
Kawasaki Disease is rare and often missed in adults, who show different symptoms than children, and may benefit from early treatment.
research Quality of Life, Burden of Disease, Comorbidities, and Systemic Effects in Vitiligo Patients
Vitiligo affects overall health and self-esteem, needing more research and awareness.
research Zinc Deficiency and Its Management in the Pediatric Population: A Literature Review and Proposed Etiologic Classification
Zinc deficiency in children can cause skin issues and can be serious if not diagnosed and treated properly.
research Crafting Polymeric and Peptidic Hydrogels for Improved Wound Healing
Advanced hydrogel systems with therapeutic agents could greatly improve acute and chronic wound treatment.
research The Genetics of Hair Shaft Disorders
The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
research Inherited Ichthyosis: Syndromic Forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Acanthosis Nigricans and the Metabolic Syndrome
Acanthosis nigricans is a skin condition that may indicate a higher risk for insulin resistance and type 2 diabetes, and more research is needed to understand and treat it.
research Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Ptosis in Childhood: Causes, Clinical Presentations, and Management
Childhood ptosis can vary from a minor cosmetic issue to a serious condition and may signal other health problems.
research Male Fertility and Skin Diseases
Some skin diseases and their treatments can negatively affect male fertility.
research Perspectives in Head and Neck Medical Oncology
The document concludes that systemic therapy is becoming more important in treating head and neck cancer, with new treatments showing promise.
research Premature Greying of Hair (Premature Canities): A Concern for Parent and Child
Genetics, stress, and health issues can cause early hair greying, which affects self-esteem, and there's no cure, only hair dye.
research Abstracts of 42nd National Conference of Association of Clinical Biochemists of India (ACBICON 2015)
The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.
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.